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A d d i s o n We s l e y p r e s e n t s

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Contents

Addison Wesley
Science Authors
Ray Bowers
Eric Brown
Sadru Damji
Dean Eichorn
Ute Goering-Boone
Art Last
Dale Parker
Robert Perkins
Geoff Rayner-Canham
Mark van Roode
Len Silverman
Gail de Souza
Elgin Wolfe
Rob Young

Advisory Panel
Ray Bowers
Shawna Hopkins
Heather Mace
Philip Marsh
Graham Satterthwaite
Gail de Souza
Elgin Wolfe

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Ray Bowers
Toronto District School Board
Toronto, Ontario

Dean Eichorn
Langley School District
Langley, British Columbia

Len Silverman
Toronto District School Board
Toronto, Ontario

Gail de Souza
Dufferin-Peel Catholic Separate School Board
Mississauga, Ontario

Rob Young
Peel District School Board
Mississauga, Ontario
Contributing Author

Robert Hedges
Peel District School Board
Mississauga, Ontario

Toronto

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Copyright 2002 Pearson Education Canada Inc., Toronto, Ontario


All rights reserved. This publication is protected by copyright, and permission should be
obtained from the publisher prior to any prohibited reproduction, storage in a retrieval system,
or transmission in any form or by any means, electronic, mechanical, photocopying, recording,
or likewise. For information regarding permission, write to the Permissions Department.
The information and activities presented in this book have been carefully edited and reviewed.
However, the publisher shall not be liable for any damages resulting, in whole or in part, from
the readers use of this material.
Brand names that appear in photographs of products in this textbook are intended to provide
students with a sense of the real-world applications of science and technology and are in no way
intended to endorse specific products.
The publisher has taken every care to meet or exceed industry specifications for the
manufacturing of textbooks. The spine and the endpapers of this sewn book have been
reinforced with special fabric for extra binding strength. The cover is a premium, polymerreinforced material designed to provide long life and withstand rugged use. Mylar gloss
lamination has been applied for further durability.

Publisher
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ISBN 0-201-70802-7
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Ack n ow l e d g e m e n t s
Curriculum and Assessment Consultant

Reviewers

Marietta (Mars) Bloch


Toronto District School Board

Ortwin Baldauf
Glendale S.S., Hamilton

Senior Science Consultant


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Peel District School Board

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Stouffville D.S.S., Stouffville

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Department of Plant Agriculture, University of Guelph

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Ellen Larsen, Ph.D.


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Northern S.S., Toronto

Sister Gabriel Riddle, cps


Francis Libermann C.H.S., Scarborough

Contributing Writers

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Francis Libermann C.H.S., Scarborough
Katherine Bellomo
Toronto District School Board
Pearl Bradd
Riverside S.S., Windsor
Zoltan Koritar
Northern S.S., Toronto
Crystal Potvin
Confederation S.S., Val Caron

Gabriel Roman Ayyavoo, M.Ed.


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Professional Writer
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Ottawa-Carleton District School Board
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Rick Hansen S.S., Mississauga
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Marc Garneau C.I., Toronto
Angela Vavitsas
Northern S.S., Toronto

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Contents
UNIT 1
Cellular Functions

CHAPTER 1
The Chemistry of Life

1.1 The Chemical Basis of Cells


1.2 Carbohydrates: Short-Term Energy Storage
1.3 Lipids: Long-Term Energy Storage
Case Study Diet and Disease
1.4 Proteins
1.5 Nucleic Acids
Investigation 1 Building Molecular Models
Investigation 2 Testing for Compounds in Foods
Chapter Summary
Chapter 1 Review

CHAPTER 2
Cell Structure and Function
2.1 A Background to Cell Structure
2.2 Cell Structures
2.3 Cytoplasmic Organelles
Case Study Ethics and Stem Cell Research
Investigation 1 Estimating an Objects Size with
the Microscope
Investigation 2 Characteristics of Cells
Chapter Summary
Chapter 2 Review

CHAPTER 3
Cell Transport
3.1 Cell Membrane: Gateway to the Cell
3.2 The Movement of Solutes and Water
3.3 Protein Carrier-Assisted Transport
3.4 Transport Requiring Vesicles
Case Study Drug Addiction and the Cell
Investigation 1 A Study of Osmosis: Determining
the Solute Concentration of Potatoes
Investigation 2 Effects on Permeability
Chapter Summary
Chapter 3 Review

CHAPTER 4
Cells at Work
4.1
4.2

Cell Reactions and Energy


Enzymes

6
13
17
21
23
26
29
31
33
34

36
38
41
48
57
58
60
61
62

64
66
68
72
75
79
80
82
83
84

86
88
90

4.3 Protein Synthesis


4.4 Photosynthesis and Food Production
4.5 Cellular Respiration
Case Study Ethanol or Fossil Fuels?
Investigation 1 Factors Affecting Fermentation
Investigation 2 Factors Affecting the Rate of
Photosynthesis
Chapter Summary
Chapter 4 Review

104
105
106

Exploring Careers
Achievement Task
Unit 1 Review

108
110
112

UNIT 2
Genetic Continuity

116

CHAPTER 5
Mitosis and Meiosis

118

5.1 Mitosis
Case Study The Demand for Human Tissue
5.2 Meiosis
5.3 Sexual versus Asexual Reproduction
Investigation 1 Observing Cells in the Process
of Meiosis
Investigation 2 Illustrating Mistakes in Meiosis
Chapter Summary
Chapter 5 Review

CHAPTER 6
Genetics and Heredity

120
129
131
143
147
148
149
150

152

6.1 The Origins of Genetics


6.2 Genetic Analysis
6.3 Genetics After Mendel
Investigation 1 Mendelian Inheritance Patterns
Investigation 2 Human Traits Following
Mendels Patterns of Inheritance
Chapter Summary
Chapter 6 Review

CHAPTER 7
Genetics and Society
7.1
7.2
7.3

93
95
98
102
103

154
160
168
180
182
183
184

186

Genes, Chromosomes, and DNA


Genetic Disorders and Pedigrees
Applying Our Knowledge of Genetics
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188
201
210
v

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Case Study What Genes Can Tell Us


Investigation 1 Gel Electrophoresis Simulation
Investigation 2 DNA Extraction
Chapter Summary
Chapter 7 Review

225
228
230
231
232

Exploring Careers
Achievement Task
Unit 2 Review

234
236
238

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10.2 The Structure and Function of the


Human Heart and Blood Vessels
10.3 The Circulatory System in Health and
Disease
10.4 Circulatory Systems in Various Organisms
Investigation 1 Exercise and Pulse Rate
Investigation 2 Measuring Blood Pressure
Investigation 3 Fetal Pig Dissection
Chapter Summary
Chapter 10 Review

324
335
341
345
346
349
354
356

Exploring Careers
Achievement Task
Unit 3 Review

358
360
362

246
254
256

UNIT 4
Diversity of Living
Things

366

UNIT 3
Internal Systems

242

CHAPTER 8
Nutrition and Digestion

244

8.1 Nutrition
Case Study Health and the Media
8.2 The Digestive System
8.3 Accessory Organs in Digestion and their
Associated Enzymes
8.4 Digestion in Various Organisms
Investigation 1 What Effect Does Temperature
Have on an Enzyme?
Investigation 2 Enzyme Activity in Fruit
Chapter Summary
Chapter 8 Review

267
275

CHAPTER 11
Classification

368

279
281
282
284

CHAPTER 9
Respiration

11.1 Taxonomy: Organizing the Diversity of Life


11.2 Phylogeny, Taxonomy, and Natural Selection
Case Study Biodiversity and Aquaculture
Investigation 1 Using a Dichotomous Key
Chapter Summary
Chapter 11 Review

370
377
382
384
385
386

286

CHAPTER 12
Archaebacteria, Eubacteria,
and Viruses

388

9.1 The Respiratory System


9.2 The Physiology of Respiration
9.3 Respiratory Disorders
Case Study Health and the Global Community
9.4 Respiratory Systems in
Various Organisms
Investigation 1 Measuring Lung Capacity
A Comparative Approach
Investigation 2 The Effect of Airways of
Different Diameters
Chapter Summary
Chapter 9 Review

311
312
314

CHAPTER 10
Circulation

316

10.1 The Human Circulatory System and the


Components of Blood
Case Study Fair Testing for Athletes?

vi

Contents

288
294
300
305
306
309

318
323

12.1 The Prokaryotes: Archaebacteria and


Eubacteria
12.2 Viruses
12.3 Bacteria, Viruses, and Biotechnology
Case Study Viruses: Research versus Risk
Investigation 1 Observing Bacteria
Investigation 2 Preparing and Observing
Stained Bacteria
Chapter Summary
Chapter 12 Review

414
415
416

CHAPTER 13
Protists, Fungi, and Plants

418

13.1 The Protists


13.2 The Fungi

420
427

390
400
405
412
413

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13.3 The Plants


Investigation 1 Growing Moulds
Investigation 2 Improving the Growth of Yeast
Chapter Summary
Chapter 13 Review

CHAPTER 14
The Animal Kingdom

Next Section

434
445
446
447
448

450

14.1 Simple Animals


14.2 Wormlike Animals
14.3 Invertebrate Animals of Increasing
Complexity
14.4 Joint-Legged Animals
14.5 Animals with Internal Skeletons
Case Study Cloning and the Cattle Industry
Investigation 1 Study of a Crayfish Body Plan
Investigation 2 Stream Study
Chapter Summary
Chapter 14 Review

452
457
462
465
469
477
478
479
481
482

Exploring Careers
Achievement Task
Unit 4 Review

484
486
488

UNIT 5
Plants: Anatomy,
Growth, and Functions

492

CHAPTER 15
The Uses of Plants

494

15.1 Plants in Nature


15.2 Plants in Agriculture
Case Study Canadas Laws on Pesticide Use
15.3 Plants in Industry
15.4 Plants in Medicine

496
502
509
514
519

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Investigation 1 A Test for Protein in Seeds


Investigation 2 Eucalyptus Oil and Dust Mites
Chapter Summary
Chapter 15 Review

523
524
525
526

CHAPTER 16
Plant Structure and Function

528

16.1 Root, Stem, Leaf: Structure and Function


Case Study Using Plants to Fight Pollution
16.2 Plant Tissues and Their Functions
16.3 Water and Food Transport
Investigation 1 Examining Monocot and Dicot
Stems
Investigation 2 Examining Plant Tissue
Chapter Summary
Chapter 16 Review

CHAPTER 17
Plant Growth and Development

530
539
541
545
551
552
553
554

556

17.1 Plant Growth and Adaptations


17.2 Hormones and the Control of Plant
Growth
Investigation 1 Factors Affecting the Growth of
Plants
Investigation 2 Investigating Gravitropism
Chapter Summary
Chapter 17 Review

558

Exploring Careers
Achievement Task
Unit 5 Review

580
582
584

Appendix
Glossary
Answers to Numerical Questions
Index
Photo Credits and Acknowledgements

589
610
630
633
644

Contents

568
574
576
577
578

vii

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UNIT

1
By the end of this unit,
you will be able to:


Demonstrate an understanding of
cell structure and function and the
processes of metabolism and
membrane transport

Investigate the fundamental


molecular principles and
mechanisms that govern energytransforming activities in all living
matter, whether it be animal, plant,
or microbial

Demonstrate an understanding of
the relationship between cell
functions and their technological
and environmental applications

Cellular Functions

t all started in 1665 when Robert Hooke first viewed what he called cells
through his homemade microscope. It continues today as biologists use
the latest high-tech electron microscopes to reveal the mysteries of cells.
You dont have to be a biologist, however, to benefit from knowledge about
cells. Whether you realize it or not, issues concerning cells affect you in

b) Scanning electron micrograph


(SEM) of a monocyte

a) A replica of Hookes microscope

c) Scientist studying cells through a


light microscope

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your everyday life. Does that new low-fat diet you want to try actually work
and is it safe? Why is there such controversy surrounding the use of anabolic
steroids in sports? Should the government spend millions of tax dollars to
equip hospitals with MRI machines? What is the best way to clean up an oil
spill? These questions have one thing in common: they can best be answered
using an understanding of cellular functions.
In this unit, you will study the dynamic processes by which nutrients and
waste material are moved in, out, and around cells. You will investigate
molecules that make up the structure of cells and others that play important
roles in cell metabolism. You will examine the structures within cells that not
only ensure the health of each individual cell, but also the health of the
entire organism. You will gain the knowledge about cells necessary to make
important decisions throughout your entire life, decisions that could affect
your health and the world around you.

BIOLOGY HEADLINES


Cell Transplant Procedure Seen as Major


Breakthrough in Treating Diabetes
A team of Edmonton doctors has removed insulinproducing cells known as islet cells from the pancreas of deceased human donors. The islet cells
were then successfully transplanted into the livers
of 14 Canadians with Type 1 diabetes. After the
transplant procedure, the diabetics no longer required daily insulin injections. The pioneer cell
transplant procedure has been hailed as a major
breakthrough in treating diabetes.

Lack of MRI Machines Tests the Patience of


Medical Patients
Imagine feeling sick, but having to wait up to 12
months to find out what is wrong. Such delays face
many Canadians waiting to receive a Magnetic
Resonance Imaging (MRI) test. MRI technology is
extremely reliable and accurate for diagnosing conditions such as cancer and brain tumours, but it
is also extremely expensive. A single machine can
cost millions of dollars to purchase and hundreds
of thousands of dollars each year to operate.
Who will pay the bill?

Oil Company Uses Single-Celled Microbe to Purify


Oil Sands
In the past, energy company Syncrude Canada has
managed to cut costs at its Fort McMurray oil sands
refining site by getting the bugs out of the process.
But now it wants to invest over two million dollars
to put bugs back into it! Pseudomonas bacteria will
be used in one of a series of research projects to
improve recovery rates from heavy oil sands mined
at the Fort McMurray site. It is hoped that the bacteria will be useful in removing impurities like nitrogen compounds found in the Syncrude oil.
Bacteria have been used before to clean up oil
spills, but this is the first time they will be used
to purify oil.
PREVIEW

ACHIEVEMENT TASK
At the end of the Unit you will demonstrate your learning by proposing recommendations to Health Canada
for allocation of funds for public health campaigns. You
will research the diseases most affecting Canadians today
and analyze which disease or diseases could be most
impacted by increased public awareness. You will also
consider the social and economic impacts of public
health campaigns, and how public awareness can be
most effectively achieved. See page 110.

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CHAPTER 1
SPECIFIC
EXPECTATIONS

The Chemistry of Life

By the end of this chapter,


you will be able to:


identify and describe the structure


and function of important
biochemical compounds, including
carbohydrates, proteins, lipids, and
nucleic acids (1.1, 1.2, 1.3, 1.4, 1.5,
Investigation 1)

view and manipulate computergenerated, three-dimensional


molecular models of important
biochemical compounds, including
carbohydrates, proteins, lipids, and
nucleic acids (1.1, 1.2, 1.3, 1.4, 1.5)

carry out biological tests for


macromolecules found in living
organisms (Investigation 2)

explain how the scientific


knowledge of cellular processes is
used in technological applications
(1.1, 1.2, 1.3)

analyse ways in which societal


needs have led to technological
advances related to cellular
processes (1.1, 1.2)

FIGURE 1.1 All life depends on the reactions of molecules in a watery

environment.

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ntelopes and grasshoppers, fish and Douglas fir. Life occurs in an


amazing number of different forms, but all consist of a few kinds of
molecules made up of a few different kinds of atoms. How do these atoms
and molecules produce such a variety of living things?
The bonding of atoms produces molecules of a specific structure or shape.
The structure of a particular molecule determines its function. A small change
in one portion of a molecule can mean an important difference in its shape
and a vast difference in its function. For example, a change in the hemoglobin
molecule of only one sub-unit out of a chain of 146 results in sickle-cell anemia in people who have this altered hemoglobin in their red blood cells.
Symptoms include weakness and pain.
Even simple-appearing molecules such as water show the importance
of structure to function. Fifty to ninety-five percent of any living organism
is water and the structure of water gives it remarkable properties. Ions, such
as sodium (Na+) and calcium (Ca2+), account for about 1%, and the remainder of most cells consists of four types of compounds: carbohydrates, proteins, lipids, and nucleic acids. These substances interact in a watery
environment. In this chapter, you will gain the understanding to appreciate
these important molecules of the cell and examine how chemical structure
and function are applied in technologies as diverse as magnetic resonance
imaging, production of baby food, and miniaturizing of electronic circuits.

Discovering Biology
Water: An excellent solvent
A solvent is the substance in which a solute is dissolved.
1.

Place a small glass on a saucer and fill the glass to the brim with water.

2.

Slowly add salt to the glass one spoonful at a time.

3.

Record how many spoonfuls of salt the water can hold before the glass
overflows.

What changes have taken place?

How can the water hold so much salt without overflowing?

CHECKPOINT
Brainstorm what you know
about elements and how
they link to one another.

Element

CHAPTER 1

The Chemistry of Life

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1.1 The Chemical Basis of Cells


Key Understandings

When you have completed this section, you will be able to:
 describe how atoms, ions, and molecules are important to biological compounds
 represent the structure of important biological molecules in different ways
 identify and describe the structure and biological functions of water
 relate characteristics of acids and bases and the use of the pH scale to conditions in
living organisms

WORD ORIGIN
Atom from the Greek atomos,
meaning indivisible or unable
to divide. Democritus kept
breaking grains of salt into
smaller pieces and asked his
students if the pieces were still
salt. He claimed he would
eventually obtain atoms
pieces that could no longer be
broken.

INFOBIT
Many biological terms in this
unit originate from the Greek
language. This is partially because Greek philosophers such
as Democritus and Aristotle
were among the first to study
science. Present-day scientists
have used words originating
from the Greek language to
create modern scientific words
as a tribute to the work of the
ancient Greeks.

UNIT 1

Cellular Functions

To understand how cells work it is necessary to understand some chemistry.


The field of biochemistry studies the
chemical reactions that take place in
cells. The same compounds are present and the same essential metabolic
processes go on in organisms as different as bacteria and humans. The principles of chemistry and the mechanisms
of chemical reactions apply inside and
outside the cell in the intracellular and
extracellular fluids. Reactions that take
place in cells must be very efficient because the formation of by-products could
be toxic and also waste energy.
The Greek philosopher Democritus
chose the term atom nearly 3000 years
ago. Today, despite the discovery of subatomic particles, the atom is regarded as
the basic unit of matter just as the cell is
regarded as the basic unit of life. Six types
of atoms (carbon, hydrogen, nitrogen, oxygen, phosphorus, and sulfur) make up
about 99% of all living organisms.
Atoms bond to one another to form
compounds. Bonds are formed by the
sharing or transfer of electrons present
in the atoms. Compounds are made up
of at least two different kinds of atoms.
In most important biochemical compounds these bonds are covalent.
Covalent bonds involve a sharing of
electrons between the atoms in the compound (Figure 1.2). Covalent bonds may
be single, double, or triple, depending
on how many pairs of electrons are
shared. For example, in a single bond
one pair of electrons is shared; in a double bond two pairs are shared.
Ionic bonds occur when one atom
donates one or more electrons to

hydrogen
atom

hydrogen
atom
e
e

hydrogen molecule

oxygen atom
e
e

hydrogen
atom

e
e

e
e

hydrogen
atom

water molecule

FIGURE 1.2 Covalent bonding. A covalent bond


forms when two atoms share one or more pairs
of electrons.

a) Two atoms of hydrogen have come together,


and each shares its electron with the other; this
completes the outer shell and gives stability.
b) Two hydrogen atoms are linked with one oxygen atom; two pairs of electrons are shared,
one pair between each of the hydrogen atoms
and the oxygen atom.

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Sodium atom (Na)

another atom (Figure 1.3). This transfer


of an electron causes the atom losing the
electron to become positively charged
and the atom gaining the electron to become negatively charged. The charged
atoms are called ions. The attraction of
opposite charges between the ions results in the formation of an ionic bond.
If the electrons are shared between
atoms, but not equally shared, the bond
is a polar covalent bond. One atom has
a slight positive charge (+ ) and the other
has a slight negative charge (). Polar covalent bonds are important in biological
compounds because of the attraction
between areas of slight positive and slight
negative charge on the compound.
Substances present in cells can be
divided into two classes: organic and inorganic compounds. Organic compounds
contain carbon. Carbon is a unique and
important element in living systems
because of its ability to form strong, stable covalent bonds. Examples of organic
compounds include carbohydrates, proteins, lipids, and nucleic acids. Inorganic
compounds are not generally part of the
structure of living cells, but in some
species, for example some corals, they
are an integral part. Most inorganic substances in cells are in the form of ions
such as sodium, chloride, and bicarbonate. Two important exceptions to this
rule are the water molecule and the carbon dioxide molecule. These molecules
are inorganic compounds that are
essential for cell metabolism.

Representation of Molecules Rather than


draw each atom that makes up a chemical compound, chemists have invented
symbol systems to represent molecules.
One such system in use is known as a
molecular formula. Molecular formulas
show the number of atoms of each type
that make up a compound; the formulas
use symbols such as C to represent
carbon, H to represent hydrogen, and
O to represent oxygen. Perhaps the
most well-known molecular formula is
H2O. Subscripts, such as the 2 in H20,
are used to show the number of each
kind of atom present in the molecule.
(Figure 1.4)

Chlorine atom (Cl)

a)
e

electron
transfer
e

Sodium ion (Na+)

Chloride ion (Cl)


ionic
compound
(Na+Cl)

salt crystals
b)

FIGURE 1.3 Ionic bonding


a) When sodium and chlorine atoms come together, sodium loses its third shell electron to chlorine, and becomes a sodium ion with a net positive charge. Having gained
an electron, the chlorine atom becomes a chloride ion, with a net negative charge.
b) The sodium and chloride ions are now attracted to each other because they are
oppositely charged. An ionic bond is formed.

Another symbol system represents


the structure of molecules. These representations are known as structural formulas. Structural formulas use the
same symbols as molecular formulas
to represent the atoms, but structural
formulas also show how the atoms making up the molecule are bonded to one
another (Figure 1.4 and Figure 1.5).
Since biologically important molecules
consist almost exclusively of covalent
bonds, these bonds are represented in
a structural formula by a line between
atoms. Each line in a structural formula
represents a shared pair of electrons.
Many of the molecules made by cells
are very complex; some protein
molecules consist of thousands of atoms.

Water

Molecular Formulas
Glucose

H2O

C6H12O6

FIGURE 1.4 Molecular

formulas

CHAPTER 1

The Chemistry of Life

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H
H

OH

C
H

O
H

OH

OH

OH

water molecule

a)

glucose molecule

C
R

C
OH

b)

c)

OH

amino acid molecule

FIGURE 1.5 Structural formulas

WORD ORIGIN
Polymer and monomer from
the Greek poly, meaning
many, mono, meaning one
and meris, meaning parts.
Polar from the Latin polus,
meaning end of axis.

INFOBIT
PEBBLES (Probes Encapsulated by BioListic Embedding) are
biosensors that allow scientists
to observe chemical processes
within a living cell. These polymer spheres can be as small as
20 nm (1nm = 109 m) in diameter. Dye is placed into the polymer and when the PEBBLE is
injected into the cell, the dye
will become fluorescent if activated by a wavelength of light.
As the targeted ion or molecule
in the cell changes, the fluorescence will increase or
decrease. This technology has
potential applications to the
study of changes in cell chemistry due to diseases or drugs.

Cells are able to make these large


molecules by joining smaller sub-unit
molecules together into chains known as
polymers. Polymers are large molecules
consisting of identical or similar building-block molecules strung together. The
arrangement is somewhat like the beads
in a necklace: each bead represents
the building-block molecule and the
whole necklace represents the polymer. The individual building-block
molecules are known as monomers.
Cells make a wide variety of polymers
using relatively few monomers. For example, glucose is the monomer molecule
of the polymer glycogen (Figure 1.7). All
the reactions that take place in cells are
collectively termed metabolism. The reactions that build up substances like
polymers through a series of steps are
anabolism. Those that break down compounds into simpler forms are
catabolism.
Three-dimensional representations
of molecules are based on patterns of
diffraction of X rays by crystals. They

FIGURE 1.7

a) A glucose molecule: a simple sugar or


monosaccharide
b) A polymer of glucose units forming a starch
molecule in a slice of raw potato
c) A complex, branched polymer of glucose
units making up glycogen globules in the liver

Image omitted due to copyright


restrictions.

WEBLINK

include space-filling models that show


the surface shape of the molecule and
computer-generated ribbon diagrams
that highlight particular areas or domains within the molecule (Figure 1.6).

Water: A Polar Molecule


To view and manipulate a
three-dimensional model of the
water molecule, go to
www.pearsoned.ca/biology11.

UNIT 1

Cellular Functions

FIGURE 1.6 A computergenerated ribbon

diagram follows the winding of the polypeptide


chains and highlights the structure of different
domains in the molecule.

Life as we know it on Earth could not


exist without water. Consider that water
makes up 5090% of nearly all organisms, and wherever water is found on

Contents

Previous Section

Proton behaviour
is responsible
for safer, better
medical imaging
Protons in the nucleus of atoms are
like tiny magnets. Magnetic resonance imaging relies on this property
of protons to create detailed medical
images. In an MRI scanner, a person
is placed into a machine capable of
producing a very strong magnetic
field. When the magnetic field is
turned on, the protons in the atoms
of the persons body tissues line up
with the magnetic field (much as a
compass lines up with Earths magnetic field). When the magnetic field
is turned off, the protons return to
their original position.
As the protons return to their
pre-magnetic state, they emit radio
waves that are received by special

Next Section

detectors built into the MRI scanning


machine. The strength of the radio
signal depends on the number of protons in the particular type of tissue.
A computer forms an image of the tissue based on the differences in the
number of radio waves detected and
the time it takes the protons to return
to their original position.
While conventional X rays show
good detail of bone structure, MRI
scans have the huge advantage of
also showing the soft tissues of the
body, such as tendons, ligaments,
muscles, and brain tissue. Cellular
processes resulting from trauma or
disease may result in a different
repertoire of cell compounds and
therefore also of atoms present in the
individuals cells. As a result, MRI
scans are often used to diagnose athletic injuries and cancer in the many
non-bony areas of the body. So far,
no known harm is caused to humans
by strong magnetic fields.
A scientific team from Canadas
National Research Council (NRC), led
by NRC scientist John Saunders, has

our planet, life is also foundwhether


it is in hot springs, the deepest depths
of the sea, or on the frozen water making up polar ice caps.
Water has a number of unique properties due to its molecular structure and
three-dimensional shape. Water is a
polar covalently bonded molecule. This
means there is competition between the
atoms for the shared electrons making
up bonds. In the case of water, the oxygen atom has a larger, more positively
charged nucleus than the two hydrogen
atoms. As a result, the shared electrons tend to spend more time near the
oxygen atom than they do near the hydrogen atoms. This results in an unequal
sharing of electrons and a difference in
charge between the ends or poles of a
water molecule: the oxygen end of the
molecule tends to have a slightly negative charge, while the hydrogen end has

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been developing an MRI scanner


small enough to be used during surgical procedures.
a)

Image omitted due to


copyright restrictions.

b)

Image omitted due to


copyright restrictions.

FIGURE 1.8 a) MRI scans show soft tissue detail much better than b) X rays do.

H
+
electrons

slight negative
charge

slight positive
charge

a slightly positive charge. Such charge


differences result in what are known
as polar molecules. See Figure 1.9 for
further explanation.
Because of their polar structure,
water molecules tend to form weak bonds
with each other. These bonds, known as
hydrogen bonds, are weak attractions
between the polar ends of water and

FIGURE 1.9 Polar covalent


bonding. In the water
molecule, the oxygen atom
attracts the shared electrons
more strongly than the hydrogen atoms do. The electrons
are shifted toward the oxygen
atom, giving it a partial negative charge (because electrons are negatively charged)
and giving the hydrogen
atoms a partial positive
charge. Partial is indicated
here by the Greek symbol
delta, . The bonds are polar
covalent and the molecule as
a whole is polar.

CHAPTER 1

The Chemistry of Life

Contents

INFOBIT
Scientists studying a 175-millionyear-old meteorite from Mars
that landed in India in 1865
have found indications that
water once flowed on the surface of Mars. Grains from the
meteorite contain a high proportion of substances that are
soluble in water. Also, images
from the Mars Orbiter camera
suggest the presence of watercarved gullies on the planet.
These discoveries have piqued
the interest of scientists, who
believe that life cannot evolve
without water.

Previous Section

Next Section

other similar molecules (Figure 1.10).


Although each hydrogen bond is weaker
than either an ionic or a covalent bond,
the effect of the billions of bonds that form
in even a small amount of water is quite
strong. This effect is similar to the way
weak individual strands of a rope combine to produce a rope of greater
strength.
There are other weak forces that operate within and between molecules.
H

+
O

H
O
H

H
+

+
H

H
O

O
+
+ H

+
H

H
+

Hydrogen bond

bonds between water molecules are indicated


by the dotted lines. These bonds exist because
of the attraction between hydrogen atoms, with
their partial positive charge, and the unshared
electrons of the oxygen atom, with their partial
negative charge.

10

UNIT 1

Cellular Functions

Because water is polar it has unique


properties. For example, water
molecules tend to stick together (cohere).
This helps explain how water columns
move within plants to carry dissolved
minerals from the roots to the leaves.
The mutual attraction of water molecules
is the reason that it takes so much energy to transform liquid water into
steam. It also explains the high boiling
point of water relative to other molecules
of similar mass, and its high specific heat
capacity.

FIGURE 1.10 Hydrogen bonding. Hydrogen

FIGURE 1.11 Waters power


as a solvent
a) The components of a crystal of table salt, Na+ and Cl ,
are attracted to the charged
regions of the water
moleculesodium to the negative charge of waters oxygen
atom and chlorine to the positive charge of waters hydrogen atoms.
b) Pulled from the crystal,
sodium and chloride ions become surrounded by water
molecules.
c) The process repeats until
the ions are evenly dispersed
in the aqueous solution.

Van der Waals interactions are nonspecific weak attractive forces between
atoms or molecules that are the result
of random fluctuations in the distribution of electrons. Both polar and
nonpolar molecules have van der Waals
interactions. Hydrophobic interactions
occur because nonpolar molecules are
excluded from mixing with polar
molecules like water and so tend to associate with each other. Hydrophobic interactions are very important in cell
membranes.

Water and Cell Processes: Cohesion


H

H
+

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High Specific Heat A high specific heat


means that water requires a large
amount of heat energy to produce a
change in temperature, and tends to
retain the heat. This means that water
moderates temperature change, allowing Earth to have a moderate climate
able to support the development and
evolution of life.

sodium and
chloride ions
dissolved
in water

water
(solvent)
H
O
H
sodium
chloride
(solute)
Cl

Na+
a)

b)

c)

Contents

Previous Section

Density Solid water (ice) is less dense


than liquid water. Ice has a more rigid
structure, because it has the maximum
number of hydrogen bonds (Figure 1.10).
This leaves more space between water
molecules, so the mass per unit volume
(density) is less than that of liquid water.
This explains why ponds freeze from the
top downa very important property in
supporting life.

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H+ concentration
(mol L1)
pH
ACIDIC
battery acid
hydrochloric acid
lemon juice, gastric (stomach) juice
cola, beer, wine, vinegar
tomatoes

Solvent Properties Water is a very good


solvent. This means that other compounds dissolve readily in watera
property that allows your blood to carry
dissolved nutrients, minerals, and gases
to and from your cells (Figure 1.11).

black coffee
urine
NEUTRAL

pure water
human blood
seawater

Dissociation Another important property of water is its ability to dissociate


(to form ions). In a simplified way, we
can regard this dissociation as water
molecules breaking down to form
hydrogen ions (H+) and hydroxide ions
(OH). H+ and OH are two of the most
reactive ions in the body.

baking soda
Great Salt Lake

household ammonia
household bleach

H2O

H+ + OH
oven cleaner
lye

Acids, Bases, and pH


Other compounds besides water break
down and release H+ or OH. Compounds
that add H+ to a solution are known as
acids and compounds that take up H+ are
called bases. The more H+ that is in a solution, the more acidic it is; conversely,
the more OH that is in a solution, the
more basic it is. Acids and bases are very
common in and around living things: vinegar, lemon juice, and gastric (stomach)
juice in humans are acidic; pancreatic
juice in humans is basic. The amount of
H+ ion in a cell is normally far less than
the amount of water. However, many vital
cellular processes, such as the proper
functioning of the metabolic reactions that
maintain life, require H+ or are strongly
influenced by the number of H+ ions in
the cell.
The pH scale is a measure of the

BASIC
FIGURE 1.12 Common substances and the pH scale. The pH scale measures the
concentration of hydrogen ions per litre of solution. The most acidic substances on
the scale have the greatest concentration of hydrogen ions, while the most basic (or
alkaline) substances have the least concentration of hydrogen ions. The scale is logarithmic, so that a difference of one unit on the pH scale means a 10 times difference in concentration. Wine, for example, is 10 times as acidic as tomatoes and 100
times as acidic as black coffee.

acidity of a solution. The pH scale ranges


from 014, with a pH of 0 being the most
acidic and a pH of 14 the most basic. A
pH of 7 is neutral, neither acidic nor
basic. Pure water has a pH of 7. Figure
1.12 lists the pH of some body fluids and
other common solutions.
Human blood should be within a pH
range of 7.357.45 and any movement
away from this pH results in a clinical
problem. Some reactions in the body
such as the beginning of digestion of the
CHAPTER 1

M AT H L I N K
The pH value is defined as the
negative log of the concentration of H+ in a solution. For every
unit change in pH, there is a 10
times change in the concentration of H+, so a pH of 4 means a
H+ concentration of 104 mol L1
(0.0001 mol L1), while a pH of 5
means a H+ of 105 (0.00001 mol L1).
The hydrochloric acid in Figure
1.12 is 101 mol L1 (0.1 mol L1).

The Chemistry of Life

11

Contents

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proteins in your food require a low pH.


However, the cells in the area of low pH
must be supported by protection from
the effects of acidity.

A Problem with Acid


The tissues of almost all living organisms are very sensitive to acid solutions.
If the pH of an organisms internal
environment becomes too acidic, this
affects the structures of proteins in the
organisms cells and tissues as well as
the chemical reactions in the cells.
Organisms worldwide are suffering
due to the effects of acid rain. Acid rain,
also called acid precipitation is defined
as rain or snow with a pH of less than
5.6. Because of the way the pH scale
works, a decrease by a difference of one
unit on the scale means that the second solution is 10 times more acidic than
the first solution. Rainfall with pH as low
as 4.3 has been recorded in southern
Ontario. Figure 1.13 illustrates how acid
rain forms.
Some scientists believe that all of the
organisms living in areas subjected to
acid rain will be affected. For example,
acid precipitation leaches the soil of some
of the metals normally found there. This
has the effect of destroying plant roots or
interfering with their ability to absorb nu-

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trients. When these metals wash into


lakes, they can interfere with the gills of
fish, preventing them from obtaining oxygen. As fish and other organisms die, the
lakes die too. Hundreds of lakes in
Ontario and Quebec are sick, dying, or
already dead.
Acid rain is also a leading cause of a
worldwide reduction in amphibian populationsfrogs, toads, and salamanders.
The exact reason for the mass decline
and near extinction of many species is
not known. However, it is suspected that
the accumulation of H+ in their habitat
particularly during spring runoffis interfering with their ability to lay eggs and
with the survival of their young. Leaching
of metals into the water causes damage
to spawn, adversely affecting fertilization.
The metals are also suspected of damaging larvae and intermediate tadpole
forms. As a result, in addition to decreased numbers, amphibian populations
are displaying increased rates of abnormalities, such as missing limbs and/or
eyes.
Acid rain is probably not the only
cause of the stress on amphibian populations. It is likely a complex interaction
between loss of habitat, global warming,
ozone depletion, and pesticide use.
Research is currently under way to
explain the factors responsible.

OH (hydroxyl radical)
rain
cloud

pollution

H2SO4
(sulfuric acid)

SO2

HNO3
(nitric acid)

NO2
NO

Image omitted due to copyright restrictions.

acid
rain

a)

b)
FIGURE 1.13 How acid rain forms

a) Sulfur dioxide (SO2), nitric oxide (NO), and nitrogen dioxide (NO2), combine with hydroxyl radicals (OH) in the atmosphere to produce sulfuric acid (H2SO4) and nitric acid (HNO3). These combine with atmospheric water to create acid precipitation.
b) A stand of trees in Ontario damaged by acid rain

12

UNIT 1

Cellular Functions

Contents

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Section 1.1 Review


Understanding Concepts

molecule. Predict whether or not these


alternative structures would behave in
the same chemical manner in cells.
Provide reasons for your answer.

1. Covalent and ionic bonds differ.


Describe two of these differences.
2. Using words and the appropriate diagrams or formulas, describe the differences between a molecular formula,
a structural formula, a space-filling
model, and a ribbon diagram in the
representation of molecules.
3. Water is a polar molecule. Explain.
4. Hydrogen bonds form between water
molecules. Hydrogen bonds do not
form between methane (CH 4 )
molecules. Using diagrams, illustrate
why.

7.

Figure 1.12 shows the relationship between pH and gastric juice, urine, pure
water, and blood. Propose other possible ways of representing this information.

8. The pH of human blood is stabilized at


7.357.45. Explain what might happen if the pH rises or falls above or
below this range.

Making Connections

5. At the beginning of winter, a friend suggests skating on a large local pond.


Explain, using scientific reasoning, the
need to be cautious about the thickness
of the ice. Identify two biological processes that depend on the same
principle.

9. Water is life. Explain this statement.


Present your ideas using an
Agree/Disagree chart.

Applying Inquiry/
Communication Skills

11. Propose ways in which effects of acid


rain on the environment can be addressed.

6. The structural formula for a molecule


with a molecular formula of C6H12O6 is
shown in Figure 1.5. Draw other structural formulas possible for this

10. Without control of its water resources,


a society does not control its life.
Analyze and describe the scientific, social and environmental aspects of this
issue.

12. Acid rain impacts the environment. It


also affects society and the economy in
a variety of ways. Explain.

Investigation
Refer to page 29,
Investigation 1

WORDORIGIN

1.2 Carbohydrates: Short-Term Energy Storage

Saccharide from the Greek


sakkharon, meaning sugar.

CH2OH

When you have completed this section, you will be able to:
 identify and describe the structure of carbohydrates
 understand the formation of polysaccharides through dehydration synthesis
 relate the ability to increase energy stored in muscles to physical training

Carbohydrates include the biologically


important molecules, sugars and
starches. These molecules provide shortterm energy to cells (Figure 1.15). In
carbohydrates, as in other organic
molecules, carbon provides the backbone of the molecule. Structurally,
carbohydrates consist of carbon, hy-

O H

Key Understandings

H
OH

OH

HO

OH

glucose

drogen, and oxygen. Like many other organic molecules, carbohydrates may be
monomers or polymers. The monomer
forms of carbohydrates are known as
monosaccharides. For example,
glucose is a monosaccharide. The
molecular formula of glucose is C6H12O6
(Figure 1.14).
CHAPTER 1

FIGURE 1.14 The structural


formula of glucose. Glucose
is an important molecule in
organisms for two major reasons. It can be broken down
quickly for the release of energy for metabolism in cells,
and it is the monomer for the
synthesis of larger carbohydrate molecules.

The Chemistry of Life

13

Contents

Image omitted due to


copyright restrictions.

FIGURE 1.15 Carbohydrates


in foods. Breads, cereals, and
pasta are important in our
diet. These foods are all rich
in carbohydrates, one of the
four main types of biochemical compounds.

Previous Section

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Disaccharides are sugars that consist of


two monosaccharides. Examples include
maltose and sucrose (Figure 1.16).
Maltose is made from two glucose
molecules, and sucrose, commonly
known as table sugar, is made from the
combination of glucose and another
monosaccharide known as fructose.
Disaccharides form by dehydration
synthesis (also known as a condensation reaction). In dehydration synthesis
a molecule of water is split out as the
bond is formed. Disaccharides are broken
down into monomers by hydrolysis, in
which a molecule of water is used up as
a bond is broken to yield two smaller
products. See Figure 1.17.

Sweet Tooth
The average Canadian consumes about
57 kg of sugar a year. Your food, soft
drinks, sports drinksjust about every
prepared food you eathas an added
sweetener. Traditionally, most of this
sugar has been in the form of sucrose
refined from sugar cane grown in
Caribbean countries, thus providing an
important economic export for those
countries. Recently a technique has been
HOCH2

HOCH2
O H

H
H
OH

H
OH

Polysaccharides
Polysaccharides are large carbohydrate
molecules (complex carbohydrates) that
are polymers of monosaccharides such
as glucose. Some important polysaccharides include starch, glycogen and
cellulose. Starch is the energy storage
molecule in plants and a good source of
energy for human cells. Glycogen is the
short-term energy storage molecule in
human cells. Cellulose is the molecule
that makes up plant cell walls.
Differences between the polysaccharides
are caused by differences in their molecular structure. Organisms must break
down polysaccharides to obtain usable
glucose molecules. For example, your

H
H
OH

H
H

OH

developed to convert the glucose in


North Americanproduced corn syrup to
the much sweeter-tasting sugar, fructose.
This new, lower-priced sweetener, called
high-fructose corn syrup (HFCS), has had
a major economic impact: the two
largest users of sucrose in the world,
Pepsi and Coke, have completely
switched to HFCS, and the economies of
some Caribbean nations have been adversely affected as a result.

CH2OH
O OH

HO

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O H HOCH
2
H

HO

OH

OH

maltose

HO

OH

CH2OH

sucrose

FIGURE 1.16 The structural formulas of maltose and sucrose

glucose
CH2OH

CH2OH
O H

glucose

H
OH

OH

HO

OH

O H

H
H
OH

H
H

OH
OH

HO

OH

Dehydration
Synthesis
Hydrolysis

maltose
CH2OH

water

CH2OH
O H

H
OH

OH

HO

O H

H
O

H
OH

OH

 H 2O
OH

FIGURE 1.17 Carbohydrates follow a building blocks model

Two units of the monosaccharide glucose link to


form the disaccharide maltose. In this dehydration
synthesis, water is also a product of the reaction. The double arrows indicate that the reaction

14

UNIT 1

Cellular Functions

is reversible. Under the right conditions, and


with hydrolysis by a water molecule, a single maltose molecule can yield two glucose molecules.

Contents

Previous Section

body breaks down starch and glycogen


by hydrolysisstarch within your digestive system and glycogen within your
cells (Figure 1.18). The glucose released
from the starch molecule in this way is
then available for use for cell metabolism.
However, humans and many other animals cannot break down cellulose into
molecules of glucose. Instead, cellulose
passes undigested through our digestive
system serving as dietary fibre.

potato

a) STARCH

liver

b) GLYCOGEN

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Glycogen Storage You probably know


that running a marathon requires several
months of training. One of the main
reasons for this requirement has to do
with the polysaccharide glycogen. Cells,
such as muscle cells, use glucose for
energy. However, only so much glucose
can be carried in the blood, so the extra
glucose is stored as glycogen in the liver
and muscle cells. Glycogen is composed
of about 50 000 glucose sub-units. As the

Investigation
Refer to page 31,
Investigation 2

WEBLINK

To view and manipulate threedimensional models, go to


www.pearsoned.ca/biology11.

algae

c) CELLULOSE

FIGURE 1.18 Examples of


complex carbohydrates
Polysaccharides, like other
large polymer molecules,
have complex three-dimensional structures, as seen in
starch, glycogen, and cellulose.
The different three-dimensional
structure of polysaccharides is
due to the different locations
of the bonds between the
glucose monomers in each
molecule.

a) Starch is a form of carbohydrate storage in many


plants. Starch granules can be
seen within the cells of a slice
of raw potato.
b) Glycogen is a form of carbohydrate storage, here seen
as glycogen globules in the
liver.
c) Cellulose, visible as fibres
running through cell walls,
provides structural support for
plants.

CHAPTER 1

The Chemistry of Life

15

Contents

Previous Section

Next Section

glucose in the blood is used by cells for


energy, the liver and muscle cells break
down glycogen by hydrolysis. This allows
the cell to replenish the glucose. An
athletes training improves the ability of
muscle cells to store much more glycogen. Without this large amount of stored
energy, the muscles would run out of energy and the runner would not be able to
finish a long race such as a marathon
or a triathlon.

Building Carbohydrates in the Lab We nor-

Image omitted due to


copyright restrictions.

FIGURE 1.19 Dr. Warren


Wakarchuks research made a
technological advance in response to a need in society.

mally think of carbohydrates as a shortterm energy source, but some of them


have other important tasks. Some of
these carbohydrates help protect infants
from disease-causing micro-organisms.
For infants the best source of carbohydrates, other nutrients, and antibodies is their mothers breast milk.
However, for some mothersincluding
those who have adopted babiesbreastfeeding is not an option. It has been a
challenge for scientists to manufacture
the special carbohydrates found in

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breast milk. While it is possible to build


carbohydrates in a chemistry lab, the
process is very slow and expensive, requiring several steps to make just one
molecule containing only two carbohydrates.
Biological systems like the ones
found in breast-milk producing cells use
specialized proteins called enzymes to
perform the numerous steps required to
make these carbohydrates. Using
biotechnology it is possible to obtain
these enzymes for use in the laboratory.
Efficiently producing the enzymes to
make the carbohydrates in the laboratory was the next hurdle to be overcome.
In answer to this challenge, Canadian
microbiologist, Dr. Warren Wakarchuk,
discovered not only how to manufacture
the necessary enzymes, but also how
to produce two enzymes in one, a step
that has made the process more efficient.
The use of this technology makes it possible to produce biologically important
carbohydrates for products like infant
formula and other health-care products.

Section 1.2 Review


Understanding Concepts
1.

2.

Name one monosaccharide, one disaccharide, and one polysaccharide and


describe the biological importance of
each.

3.

Using diagrams illustrate why a dehydration reaction may be considered the reverse of a hydrolysis
reaction.

4.

16

UNIT 1

Cellular Functions

List the similarities and differences between monosaccharides, disaccharides,


and polysaccharides.

Hitting the wall is a term marathon


runners use to describe their bodys reaction once their liver and muscle cells
have run out of glycogen. What strategies could a marathon runner utilize to
prevent this from happening?

Applying Inquiry/
Communication Skills
5.

In preparation for competition an athlete has to decide what to eat on the


day of competition. Design an experiment to test the effects of different carbohydrate sources on athletic
performance. What is your hypothesis?
Outline your procedure.

Making Connections
6. Some people believe that a vegetarian
diet is best for you and for the environment too.
Prepare a PMI chart on this statement.
Include a consideration of dietary fibre
(more technically known as the
polysaccharide cellulose).

Contents

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1.3 Lipids: Long-Term Energy Storage


Key Understandings

When you have completed this section, you will be able to:
 identify and describe the structure of lipids
 understand the varied functions of lipids in cells
 relate types of lipids to their role in a balanced diet

The organic compounds known as lipids


include fats, phospholipids, waxes, and
steroids. In human cells, fats serve as
long-term energy storage molecules,
phospholipids form cell membranes, and
steroids include cholesterol and certain
sex hormones.
Because fats have many energycontaining carbon-hydrogen bonds
(there may be more than 100 such
bonds in a typical fat molecule), they are
useful long-term energy storage
molecules in both plants and animals.
Fats make for good energy storage
molecules because they are a very concentrated source of energya gram of
fat contains more than twice as much
energy as a gram of carbohydrate. This
translates into more energy requiring
less mass. This is an important consideration in animals that must carry their
stored energy with them as they travel.
Stored fat also helps cushion and
protect important organs such as the
kidneys.
Fats are made up mainly of two
types of molecules: fatty acids and glycerol. Fatty acids are long carbon-hydrogen chains with a carboxyl (COOH) group
at one end. Fatty acids may be either
saturated or unsaturated. Saturated
fatty acids have no double bonds between their carbon atoms and are literally saturated with hydrogen atoms.
As seen in Figure 1.20, saturated fatty
acids are relatively straight (or linear)
molecules. In contrast, unsaturated
fatty acids have one or more double
bonds between carbons and so are not
saturated with hydrogen. Figure 1.20
shows that wherever a double bond is
found in the fatty acid portion of the

WORDORIGIN

molecule, it causes a kink or bend in the


molecule. These kinks prevent unsaturated and polyunsaturated fatty acids
from packing together tightly. As a result, the linear saturated fatty acids are
able to pack more tightly together and
tend to be solids at room temperature
(lard, for example). The kinked unsaturated fatty acids cannot pack as tightly
and therefore tend to be liquid at room
temperature.
The
degree
of

Lipid from the Greek word


lipos, meaning fat.

Palmitic acid
O H H H H H H H H H H H H H H H
HO

C C C C C C C C C C C C C C C C H
H H H H H H H H H H H H H H H
Saturated
(no double bonds)

Oleic acid
H H H H H H H H H
O H H H H H H H
HO

C C C C C C C C C H

C C C C C C C C C

H H H H H H H H

H H H H H H H H
Monounsaturated
(one double bond)
Linoleic acid

H H H H H H
H H

O H H H H H H H
HO

C C C C C C H

C C C

C C C C C C C C C

H H H H H

H H

H H H H H H H H
Polyunsaturated
(more than one double bond)
FIGURE 1.20 Saturated and unsaturated fatty acids

a) The hydrocarbon tail in palmitic acid is formed of carbon-carbon single bonds.


b) In oleic acid there is one carbon-carbon double bond. An additional hydrogen atom
could link to each of the carbon atoms. Oleic acid is a monounsaturated fatty acid.
c) The carbon chain in linoleic acid has two double bonds so linoleic acid is a polyunsaturated fatty acid.

CHAPTER 1

The Chemistry of Life

17

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WEBLINK

saturation affects both the form these


lipids take and their effects on human
health.
Lipids made from saturated fatty
acids are known as saturated fats. These
lipids are found in red meat and dairy
products. Saturated fats have proven
to be associated with health problems,
particularly related to the circulatory
system.
Lipids containing unsaturated fatty
acids are called unsaturated fats. They
come from plants, such as canola, corn,
and olives as well as some animal
sources. Some unsaturated fats may benefit your health. Certain unsaturated
fatty acids, such as linoleic acid, are
essential in the human diet because they
cannot be made by the body. Recent
research on a substance called
conjugated linoleic acid (CLA) suggests
possible health benefits from eating

To view and manipulate threedimensional models of lipids go


to
www.pearsoned.ca/biology11.

H
H

OH 

HO

C
O

OH 

HO

OH  H
O

R1

R1

O
R2

O
C

Next Section

R2

3 H2O

water

O
R

R3

H


glycerol

3 fatty acids

triglyceride

FIGURE 1.21 Formation of a triglyceride. R1, R2, and R3 stand for the hydrocarbon
chain of the particular fatty acid. For example, R1, R2, and R3 could be palmitic acid,
oleic acid, or linoleic acid as shown in Figure 1.20.

nucleus of
fat cell

beef, lamb, and goat meat, and dairy


products.
Animals store energy in the form of
fats. Glycerol is an organic molecule
with three carbons and three hydroxyl
groups. Glycerol bonds with two or three
fatty acids to form a fat. A glycerol
molecule bonded to three fatty acids is
known as a triglyceride. Triglycerides
are the long-term energy storage
molecules in animals and are stored in
fat cells in adipose tissue (Figure 1.22).
Unlike other cells in the body, fat
cells have an almost unlimited capacity
for growth. So when individuals put on
weight, they are not making more fat
cells; instead they are just adding more
triglycerides to their existing cells.

Essential Fatty Acids


Low-fat diets are popular, and this may
be a good thing because most Canadians
eat a diet too high in fatespecially saturated fat. However, if low fat is better
for you, how about no fat? Wouldnt that
be even better still? The answer is no.
Lipids have an important role in your
body, and your cells can make some but
not all of the lipids you require. Linoleic,
linolenic, and arachidonic are the essential fatty acidsthe label essential
means they must be present in your
food. Without them, your cells are unable to make all of the fatty acids necessary to function properly. As with any
diet, it is best to consult with your doctor before drastically changing your eating habits.

adipose
tissue
capillaries
fat cells
FIGURE 1.22 In a microscope slide of adipose tissue the fat cells appear empty
because the lipid contents dissolve during preparation of the tissue.

18

UNIT 1

Cellular Functions

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Discovering Biology
The Hidden Fats: What the Food Labels Dont Tell You
Although Health Canada rules require ingredient labels on food products, they
may not always tell you all of the types of compounds present in a particular food.
1. Obtain labels from fat-containing products such as potato chips, margarine,
cookies, mayonnaise, etc.
2. List the amounts of the various types of fats shown on the food labels in a chart
similar to the one shown.
3. Calculate the amount of hidden fat in the food product in the following way:
Total fat (Polyunsaturates + Monounsaturates + Saturates)
= Amount of hidden fat
The hidden fats are known as trans-fatty acids. These lipids
are produced when hydrogen atoms are added to unsaturated fats, a process known as hydrogenation.
Hydrogenation allows liquid vegetable oils to become
solids at room temperature. Trans-fatty acids are considered by many experts to be quite harmful to your
health. They are not required to be listed on food product labels at the present time, although some manufacturers have started to do so.

Product Product Product Product


#1
#2
#3
#4
Total Fat
Polyunsaturates
Monounsaturates
Saturates
Hidden Fat

Questions:
Which food product had the most hidden fats? Which had the least?
Use print or electronic references to research the health-related effect of
trans-fatty acids and report your findings to the class.
 What is your opinion on the labelling of different foods? What changes in
labelling, if any, would you like to see?



WORDORIGIN

Phospholipids
+

Hydrophilic and hydrophobic


are from a combination of Latin
and Greek words. Hydro is
Latin, meaning water; philic
is from the Greek philios,
meaning friendly; and phobic
is from the Greek phobos,
meaning fearing.

a)

nitrogencontaining
group

phosphate
group

polar head

nonpolar tails

b)
like attracts like
phospholipids
oil (nonpolar)
water (polar)

nonpolar, hydrophobic
tails (fatty acids)
polar, hydrophilic
heads

FIGURE 1.23 A dual-natured molecule


a)Phospholipids are made up of two
long fatty acid tails attached to a head
that contains a negatively charged
phosphate group and a positively
charged nitrogen-containing group.
b)The polar head can bond with water
and remain submerged in it; the tails
have no bonding capacity for water but
will mix with oils.

CHAPTER 1

The Chemistry of Life

19

Contents

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Phospholipids

a) What all steroids have in common is a four-ring carbon unit:

b) What makes individual steroids unique are the side chains that
are attached to the rings:
CH3

OH
CH3

HC

CH3

CH3

Steroids

CH2

testosterone

CH2
HC

OH

CH3

CH3

CH3
CH3

cholesterol

estrogen
HO

HO

FIGURE 1.24 Structure of steroids

a) The basic unit of steroids, four carbon rings


b) Testosterone is a principal male hormone and estrogen is a principal female
hormone. These steroid hormones are found in both men and women, but in differing
amounts. Cholesterol has several important functions; for example, the breakdown of
fats.

Anabolic Steroids
Anabolic steroids are artificial versions of the male sex hormone testosterone that some men and women
take to increase their strength and
muscle size. Anabolic steroids are

UNIT 1

Phospholipids are also necessary to cells.


Phospholipids consist of a hydrophilic
(water-loving) phosphate molecule and
two hydrophobic (water-hating) fatty
acid tails. Phospholipids are an important part of cell membranes. The hydrophilic and hydrophobic ends of
phospholipids help the cell membrane
perform its function of regulating the
passage of molecules into and out of the
cell. Only very small molecules or those
that are fat soluble can pass through the
phospholipid part of the membrane. See
Figure 1.23.

CH2

20

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Cellular Functions

Steroids are an important group of lipids


that consist of four linked carbon rings.
They include cholesterol and certain sex
hormones (Figure 1.24). Although cholesterol is necessary for several functions,
including the proper formation of cell
membranes, too much cholesterol in the
diet can cause heart and/or arterial
disease. The steroid sex hormones estrogen and testosterone are present in
both males and females, but in different relative amounts. Testosterone is
more abundant in males and estrogen is
more abundant in females.

commonly called steroids or roids.


Their use has a number of unhealthy
and dangerous side effects. For example, anabolic steroids can weaken
the immune system, leading to an increased chance of illness, can cause
liver damage, and can also permanently stop bone growth in teenagers.
As a result, the person fails to reach
his or her full height.
Other effects of anabolic steroid
use differ between the sexes. In

females, steroid use can stop menstruation, cause scalp hair to fall out,
and cause body and facial hair
growth to increase. In males, anabolic steroid use can interfere with
the production of natural testosterone, causing the testes to shrink,
sperm count and reproductive ability to decrease, and scalp hair to be
permanently lost.

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Decision-Making Skills

Case

Study

Diet and Disease

Defining the Issue

Developing Assessment Criteria

Researching the Issue

Analyzing Data and Information

Proposing a Course of Action

Justifying the Course of Action

Communicating Your Proposal

B A C K G R O U N D I N F O R M AT I O N

For a number of years the news media have been


reporting possible health risks associated with eating foods high in cholesterol and saturated fat.
The risks include an increased chance of developing heart and artery disease as well as an increased
risk of developing certain forms of cancer. As a result, many people have reduced their intake of foods
high in saturated fats, such as red meat and dairy
products.
However, recent research suggests that while
red meat and dairy products may contain some
harmful compounds, they also contain a substance
that is proving to be very beneficial. This beneficial compound is known as conjugated linoleic acid
a slight variation of linoleic acid, an essential
unsaturated fatty acid. Recall that essential fatty
acids are those that your cells cannot manufacture
and must, instead, be obtained in your diet.
Current testing of CLA is focused on animals like
cattle, as well as laboratory animals like rats and
mice. The farm animals have demonstrated that CLA
results in less body fat, leaner body mass, and better immune function. CLA use in lab animals has
shown promise in fighting different forms of cancer.
It has also resulted in improved tolerance of glucose.
These indicators show that CLA could also have benefits for humans. More testing is required, however,
before this can be proven.

Possible links between diet and disease remain


important areas for research. As a result of this
research there is potential for diseases like cancer
and diabetes to be prevented or cured by the foods
we eat.

Image omitted due to copyright restrictions.

FIGURE 1.25 Red meat and dairy products contain


conjugated linoleic acid.

Analyzing the Issue


1.

Research diets that are recommended to people living


with cancer or diabetes. Select one of these diets and
summarize your findings under the headings of:
Description of diet; Nutrients present; Advantages of the
nutritional components for combatting the disease;
Disadvantages of the diet for healthy living.

2.

Identify the social and economic impacts (benefits and


costs) that could result in treatment of disease through
diet. Explain the effect that these impacts could have on
other areas of research.

3.

You are members of a team assigned to look at the research that currently exists on diet and its effect on
disease. Your team should include a nutritionist, a scientist, a medical doctor, a member of the news media,
and a person who is living with diabetes or cancer. You
will be preparing a presentation to a Health Canada
Committee on your recommendations for revising or
maintaining the current Canadas Food Guide. Your proposal should include an analysis of statistics, and
evidence from current research, as well as a summary
of the perspectives represented within your team.
CHAPTER 1

The Chemistry of Life

21

Contents

Previous Section

A Three-dimensional
View of Molecules
The recently developed scanning tunneling microscopes (STMs) and
atomic force microscopes (AFMs) are
able to reveal even smaller things
than either transmission or scanning
electron microscopes can. STMs and
AFMs belong to a family of scanning probe microscopes that are
based on mapping interactions between a physical tip and a surface of
interest. STMs map current/voltage
interactions and AFMs map atomic
force interactions.
The invention of the STM was a
Nobel-prize winning discovery at

the IBM laboratory in Zurich,


Switzerland. The microscope consists
of a tiny probe that maintains a 0.001
m gap while it scans across the surface of a molecule. In order to keep
the distance of the gap at a constant
0.001 m, the probe moves up and
down as it travels across the surface of the molecule. A computer
compiles an image of the molecules
surface based on the up-and-down
movements of the probe.
The three-dimensional map that
is generated has a resolution close to
atomic scale. These unique instruments perform this imaging in realtime and often in situ, without the
need for extensive preparation.
Dr. Christopher Yip of University
of Toronto has studied the insulin
molecule using AFM. He has produced an image of a crystal of insulin
in fluid. The periodic structures seen

WEBLINK

Section 1.3 Review

For more information on STMs,


begin your research at
www.pearsoned.ca/biology11

Understanding Concepts
1.

Next Section

3. Name the molecules required to make


a triglyceride.
4. Why is it necessary to include cholesterol in your diet? Why is it harmful to
have too much cholesterol in your diet?
5. Research the importance of steroids to
human health. Make a chart to list the
normal functions of steroids and a
companion chart indicating the possible results of an excessive intake of
steroids.

Applying Inquiry/
Communication Skills
6. A 100-g health food bar is advertised
as being low in saturated fat.
The total fat is listed as 32.2 g,
while polyunsaturates are 1.2 g and

22

UNIT 1

Cellular Functions

in Figure 1.26 are individual insulin


hexamers packed into the crystal
lattice. Each hexamer is about
5.5 nm. in diameter (1 nm = 109 m.)
How would you calculate the
magnification?

FIGURE 1.26 AFM image of a crystal of

insulin.

monounsaturates are 14.4 g. Saturates


are 5.0 g. Write a paragraph to explain
why you would or would not recommend this bar as a healthy choice.

List four important biological functions


of lipids.

2. Explain why fats are well suited to be


the long-term energy storage molecules
in plants and animals.

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Making Connections
7.

There is much discussion in the media


about the possible health effects of saturated versus unsaturated fatty acids.

a) Compare the structures of saturated and unsaturated fatty acids.


b) Relate the structures to their functions/actions in the body.
c) Predict the long-term health effects
of a diet rich in either of these types
of compounds.
d) Extend your prediction from c) to
a consideration of possible economic impacts on society.
8. Some fats are better for you than others. Two of the better fats are canola
oil (a Canadian discovery and product)
and olive oil. Use a risk/benefit analysis to investigate the effect of a diet in
which the only fat consumed is canola.

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1.4 Proteins
Key Understandings

When you have completed this section, you will be able to:
 identify and describe the structure of proteins
 understand the formation of peptide bonds through dehydration synthesis
 relate protein structure and function

Proteins direct and control the chemical


reactions in life processes: they make up
part of the cell membrane; they provide
support and shape to cells; some function as hormones to send chemical messages between cells or as enzymes to
a) What all amino acids have in common is an
amino group and a carboxyl group attached
to a central carbon.
H
amino
group

H
N

carboxyl
group

OH
R

speed up chemical reactions in your


body. In fact, about half of your bodys
dry weight is protein.
Proteins are polymers of amino
acids (Figure 1.27). Each amino acid
contains carbon, hydrogen, and oxygen,
similar to carbohydrates and lipids,
but amino acids are unique because they
contain nitrogen. All amino acids have
the same basic structure: an amino
group (NH2), a carboxyl group (COOH),

WORDORIGIN
Protein from the Greek, proteios meaning of the first
rank. The term was first used
by the Dutch chemist Gerard
Johannes Mulder in 1838.
Mulder recognized the primary
importance of proteins.

The linkage of several amino acids...


side-chain
H

b) What makes the 20 amino acids unique are the


side-chains attached to the central carbon.

H
O

H
N

H
H
N

OH

C
OH

ile

H2 O

OH

OH
gln

ala

H
O

H2 O

CH2
tyrosine

H
N

OH

OH
ala

gln

ile

H
O

H
N

OH
CH2

glutamine

C
H2N

...produces a polypeptide chain like this:


O

ala

le u

s er

glu

glu

his

ala

FIGURE 1.27 Structure of amino acids

a) Elements common to the structure of all amino


acids are an amino group and a carboxyl group,
linked by a central carbon with a hydrogen attached
to it. The side chain that occupies the R position
determines the character of individual amino acids.
b) Examples of actual amino acids: tyrosine and
glutamine

gln

il e

s er

tyr

a la

ser

glu

glu

FIGURE 1.28 Beginnings of a protein

Amino acids join together by dehydration synthesis to form polypeptide chains that
fold up to become proteins. The formation of each peptide bond yields water as a
by-product. Here alanine (ala) joins with glutamine (gln), which is then linked to isoleucine
(ile). A typical protein consists of hundreds of amino acids linked together.

CHAPTER 1

The Chemistry of Life

23

Contents

M AT H L I N K
How would you calculate the
number of different proteins
150 amino acids long that could
be assembled from the 20 different amino acids available in
cells? Hint: How many choices
are there for the first amino
acid? How many for the second? How many different proteins, then, could be assembled
from two amino acids? Does
the same logic apply to proteins assembled from 150
amino acids?

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and a side chain (or R group) attached


to the central carbon. The 20 amino
acids important to human metabolism
vary only in the structure of the R
groups. The different R groups give
the various amino acids different biological properties. For example, R groups
may vary in the amount of space they
occupy, carry a partial charge or be able
to form hydrogen bonds with other parts
of the protein molecule. See Figure 1.27b
for examples of different R groups.
Proteins can be very large
molecules. Some of them contain as
many as 1000 amino acid monomers.
Proteins are formed by dehydration synthesis within cells. The bonds that form
between adjacent amino acids are
known as peptide bonds, and such a

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molecule, with many amino acids, is


known as a polypeptide (Figure 1.28).
For a protein to function properly in
a muscle cell, as a hormone, or as an enzyme it must have a particular shape.
Structure determines function (how one
molecule fits together with another).
Some proteins have very complex
shapes, and due to these complex structures, scientists recognize four different
levels of protein structure: primary, secondary, tertiary, and quaternary. See
Figure 1.29. The primary structure is
simply the order of the amino acids in
the polypeptide. Once formed, the primary structure often folds upon itself
to form a secondary structure in the
form of an -helix or a -pleated sheet
pattern. Tertiary structures are formed

FOUR LEVELS OF STRUCTURE IN PROTEINS


Primary
structure

a)
amino acid sequence

Secondary
structure

b)
helix
random coil
pleated sheet
FIGURE 1.29 Four levels of
structure in proteins.

a) The primary structure of the


protein. The sequence of amino
acids determines the proteins
final shape.

c)

b) The secondary structure


may be a -pleated sheet,
corkscrew-like -helix, or the
less organized random coil.
Secondary structures are due
to hydrogen bonding.

Tertiary
structure
folded polypeptide
chain

c) The tertiary structure involves folding of the secondary


structures.
d) Two or more polypeptide
chains may be linked together
in a given protein, in this case
hemoglobin. This configuration
forms the quaternary structure.

24

UNIT 1

Cellular Functions

Quaternary
structure

d)

two or more
polypeptide chains

Contents

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when the secondary structures fold over


upon themselves, and are held by covalent, ionic, hydrogen and non-polar
bonds. The covalent bonds are
disulfide bridges between sulfur-containing amino acids in different parts of
the polypeptide chain or between different polypeptide chains in the protein.
Quaternary structures occur when two
or more polypeptide chains combine to
form the protein.

Proteins Complexed with


Metal Ions
A number of proteins essential to the
metabolism of different types of cells
contain metal ions. For example,

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hemoglobin is complexed with iron.


Hemoglobin carries oxygen in red blood
cells. Its quaternary structure is formed
from four polypeptide chains. Each
polypeptide chain in the quaternary
structure consists of around 150 amino
acids. Linked to each of the four chains
is a complex called the heme group that
contains iron in the Fe(II) state. This
group is essential to the binding of oxygen by the molecule and imparts the red
colour to human blood. The blood of
some other organisms contains different
complexes; for example, the iron complex is slightly different in the blood of
some marine worms and this results in
their blood being green.

WEBLINK

To view and manipulate


three-dimensional models of
proteins, go to
www.pearsoned.ca/biology11

Section 1.4 Review


Understanding Concepts
1.

Name and describe the monomer


molecule that makes up proteins.

2.

Provide reasons why proteins are important to cells and cellular functions.

3.

Explain the relationship between the


terms peptide bond and polypeptide.

4.

Describe the four levels of protein


structure and indicate the relation
between structure and function in proteins.

5. Make three-dimensional models of protein structures. You may want to use


Styrofoam balls, toothpicks, paper
clips, glue, etc. in the construction of
your models.
6. Your digestive system produces enzymes to break down the proteins in
your diet into amino acids. Within your
cells, these individual amino acids
are reassembled into the proteins
needed by your body. Name the process responsible for a) breaking down
polypeptides and b) joining amino acid
monomers into polypeptides.

Applying Inquiry/
Communication Skills
7.

Proteins have a huge range of functions


within the body. Some proteins have
stirred controversy because of their use

in medical treatment. Research and report on one of the following proteins:


human growth hormone, estrogen, herceptin (a cancer-fighting protein), or
beta-amyloid (a protein involved in
Alzheimers disease).
8. You can manufacture only about half
of the amino acids required by your
body. The rest, called essential amino
acids, must be obtained in your diet.
Find out which amino acids are designated as essential, and what foods are
a good source of these important
molecules.
9. Design an experiment to investigate the
effects of three popular protein
supplements.

Making Connections
10. Linus Pauling was one of the few scientists to win the Nobel Prize twice.
Research his work on protein structure
at the library or on the Internet. List at
least two proteins present in common
substances whose structures are precisely known. Relate their function to
their structure.
11. Advertisements for protein supplements are very popular in fitness and
body-building magazines. Identify
claims being made in these ads. Are
they justified? Why?

CHAPTER 1

The Chemistry of Life

25

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1.5 Nucleic Acids


Key Understandings

When you have completed this section, you will be able to:
 identify and describe the structure and biological importance of nucleic acids
 relate energy release in the cell to adenosine triphosphate (ATP)

NUCLEOTIDES ARE THE BUILDING BLOCKS OF DNA


a)

sugar
(deoxyribose)

nitrogenous
base

NUCLEOTIDE

P
O

O
P

P
O
T

b)

P
P

O
P

P
O

O
P

O
P

sugar-phosphate
backbone

hydrogen bond

phosphate
group

Nucleic acids form the important hereditary molecule DNA, which determines
the formation of substances characteristic of any particular species, and also
its closely related molecular cousin RNA,
which is involved in the synthesis of the
proteins determined by the DNA code.
Nucleic acids are polymers formed from
monomer molecules called nucleotides.
Nucleotides are made of three subunits:
a nitrogen-containing base, a five-carbon pentose sugar molecule, and a phosphate group. The sugar is deoxyribose
in DNA or ribose in RNA, and the nitrogen-containing base may be one of
five compounds: adenine, guanine, cytosine, thymine, or uracil. Thymine is
present only in DNA; uracil is present
only in RNA.
As shown in Figures 1.30 and 1.31,
in DNA the sugar and phosphate groups
form the outer backbone of the molecule,
while the bases point toward the interior. Hydrogen bonds formed through

P
P

FIGURE 1.30 Nucleotides are the building

blocks of DNA.
DNA strand

DNA
double helix

a) The organization of the nucleotide: sugar,


phosphate group, and nitrogenous base. The
structural formulas for guanine and cytosine.
A given nucleotide might contain any of four
bases: Adenine (A), Guanine (G), Thymine (T), or
Cytosine (C).
b) The sugar and phosphate components form
the outer backbone of the molecule while the
bases point toward the molecules interior.
Hydrogen bonds between the bases link the
two chains to form the DNA double helix.
Nucleotides join together in dehydration synthesis to form both single-stranded RNA and double-stranded DNA. RNA nucleotides contain the
sugar ribose and DNA nucleotides contain the
sugar deoxyribose, which has one less oxygen
atom per sugar than ribose.

26

UNIT 1

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slight differences in charge between


pairs of bases link the two chains of
bases. Each of the linked chains of bases,
or strands, is in the form of a helix, so
the molecule is referred to as a double
helix. The three-dimensional structure
of DNA is such that adenine can pair
only with thymine and guanine can pair
only with cytosine. These are referred
to as complementary base pairs. RNA
has a similar sugar phosphate chain
backbone. RNA is usually single
stranded, although it is capable of forming hydrogen bonds and a double helix
under the appropriate conditions.

Image omitted due to


copyright restrictions.

Adenosine Triphosphate ATP

Image omitted due to


copyright restrictions.

FIGURE 1.31 DNA is double stranded; RNA is


usually single stranded.

a) A computer-generated space-filling model of


DNA
b) A computer-generated space-filling model of
RNA

Molecular Circuits

For the past four decades electrical


engineers have been constantly proving Moores Law, which states: the
ability to place electronic circuits on
a silicon computer chip doubles about
every 18 to 24 months. This allows
the speed of the computers processor to double as well. However, some

Adenosine triphosphate (ATP) is another important nucleotide in the cell.


Unlike DNA and RNA, which are polymers, ATP is a monomer. Three phosphate groups are attached to the ribose.
The bonds between these phosphate
groups are often called high-energy
bonds because they are associated with
energy release. ATP is the energy-providing molecule of the cell. When the
third phosphate group is split off by hydrolysis, a net release of energy results, and ADP (adenosine diphosphate)
is formed. The conversion of ATP to ADP
can be simplified to:
ATP ADP + P + ENERGY

computer scientists think that their


ability to miniaturize circuits will
soon have reached its limitand
computers will soon reach their
terminal velocity.
Many scientists think that the answer to this, as well as to other electronic problems, is to use
custom-designed molecules to replace
parts such as transistors. For example, at Cornell University in the U.S.,
researchers have devised a way to
use ATPase (the enzyme that generates ATP in mitochondria) to power
a tiny motor. The researchers hope
that one day, such a device may be

used to inject anti-cancer drugs into


the diseased cells in a cancer patient.
Other research is testing the use of
molecules as switches that can turn
off a flow of electric current, performing a function similar to the
diodes that are currently used.
One of the advantages of using
molecules as opposed to conventional
electronic circuits is that a molecular
circuit can be made up to 60 000
times smaller than its electronic
counterpart. This fact opens up the
possibility that Moores Law may continue unchecked as molecular-based
machines become the standard.

CHAPTER 1

The Chemistry of Life

27

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The ATP cycle

FIGURE 1.32 The ATP cycle


Energy released from the
breakdown of ATP is available
for endergonic (energy-requiring) reactions in the cell.
Exergonic reactions in the cell
provide energy to convert
ADP to ATP.

ATP

Hydrolysis

Energy from
exergonic reactions

ation synth
ydr
es
eh

is

Energy for
endergonic reactions

ADP+ P

This conversion of ATP to ADP, a reaction that releases energy, is termed an


exergonic reaction. For example, muscle cells break down ATP to ADP, providing energy for movement. Reactions
that require energy are called
endergonic reactions.

To replace the ATP that is used, cells


break down glucose to enable ADP to be
re-converted to ATP. Thus, glucose supplies the energy to form ATP, and ATP
provides energy directly to the cell. This
sequence of reactions is often shown
as a cycle, as in Figure 1.32.

Section 1.5 Review


Understanding Concepts
1.

Describe the biological importance of


nucleotides.

2.

Using a table, compare and contrast


DNA and RNA. List their similarities
and differences.

3.

Identify three types of molecules


formed by nucleotides. Describe each
with respect to components, structure,
and function.

4.

Explain how the ATP molecule is involved in the storage and release of energy in cells.

5.

6.

28

UNIT 1

Cellular Functions

When researchers analyze the structure of DNA, certain patterns are constant. For example, the number of
adenine nucleotides always equals the
number of thymine nucleotides, and
the number of guanine nucleotides always equals the number of cytosine nucleotides. Based on this information,
what might you conclude about the
structure of the DNA molecule?
Investigate the DNA molecule and
check your conclusion.
Examine Figure 1.30. The structure of
DNA is described as a double helix.
What common object does the shape
of the DNA molecule remind you of?
Relate the parts of that object to the
molecules that make up DNA.

Applying Inquiry/
Communication Skills
7.

What might happen to a cell whose


DNA is damaged?

8.

In DNA, A always binds with T and G


with C. If one strand of a DNA molecule
was made up of the bases ATGTCGAA,
what bases would the other strand contain?

Making Connections
9.

DNA could possibly be damaged by


overexposure to UV radiation.
Research the effects of UV radiation on
DNA. Make a list of precautions that
should be taken to minimize such exposure.

10. It is now considered important for


the general public to have a basic
knowledge of DNA. DNA affects our
lives in more and more ways all the
time; ways that include decisionmaking regarding reproduction, health,
voting, and jury duty. Choose one of
these issues, research and prepare a
supported opinion piece indicating why
a basic knowledge of DNA is useful.

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Inquiry Skills

Investigation 1

(Section 1.2, 1.3, 1.4)

Building Molecular Models


Problem

3.

How do carbon atoms and other atoms join to form organic molecules?

Initiating and Planning

Applying Technical Skills

Using Tools, Material, Equipment

Conducting and Recording

Analyzing and Interpreting

Concluding and Communicating

Build another molecule of glucose and join the two


molecules together to form maltose as shown in
Figure 1.34.

Part B Lipids
4. Build a glycerol molecule as shown in Figure 1.35.

Materials and Equipment


 Molecular model kit

Procedure
1.

Use a molecular model kit and build the molecules


indicated in this Investigation. Be sure to make a
labelled sketch in your notebook for each molecule
you build.

OH

OH

OH

Part A Carbohydrates

H
FIGURE 1.35 A glycerol molecule

H
H

OH

5.

H
H

CH3 (CH2)nCOOH

OH
OH

OH

so a simple representation of a fatty acid would


be a 3- or 4-carbon chain as shown in Figure 1.36.
However, be aware that in animal tissues the most
commonly found fatty acids have n between 12 and
24. If you have time, build palmitic acid,

OH

CH3 (CH2)14 COOH

FIGURE 1.33 The structure of glucose

2.

Build three molecules of a short fatty acid. The general formula of a fatty acid is:

Glucose has a structural formula of C6H12O6. Use


Figure 1.33 to help you build a glucose molecule.

glucose
CH2OH

CH2OH
O H

H
H
OH

OH

HO

FIGURE 1.34

glucose

OH

O H

H
H
OH

H
H

OH
OH

HO

OH

Dehydration
Synthesis
Hydrolysis

maltose
CH2OH

water

CH2OH
O H

H
OH

OH

HO

O H

H
O

H
OH

OH

 H2O
OH

The formation of maltose.


CHAPTER 1

The Chemistry of Life

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(continued)

9.

O H H H
HO

C C C C H
H H H

Analyzing and Interpreting

FIGURE 1.36 A 4-carbon fatty acid

6.

Place the glycerol and three fatty acids you built on


your table and join them together into a triglyceride
by simulating the process of dehydration synthesis.

Part C Proteins
7. Proteins are made from different combinations of
the 20 different amino acids. Remember that all
amino acids contain an amino group and a carboxylic acid group. Two of the simplest amino acids
are glycine and alanine. Use Figure 1.37 to help
you build glycine and alanine.

H O

H
N
H

C C O H

N
H

C C

H C H

O H

H
a)

b)

FIGURE 1.37 a) glycine b) alanine

8.

30

Arrange the amino acids so you can bond them together by simulating the process of dehydration
synthesis.

UNIT 1

Cellular Functions

Reverse the reaction from step 8. This will leave


you with two amino acids through the process of
hydrolysis.

1. Name the process that would allow the completion


of step 3 within a cell.
2. Why did you need to build three molecules of
fatty acid in step 5?
3. What molecules did you have left over after completing step 8?
4. Name the type of molecule you built in step 8.
5. What is the name of the bond that joins the two
amino acids together in step 8?

Concluding and Communicating


6. As a class, alcohols have a functional group called
a hydroxyl group. How does this property explain
the fact that ethanol, CH3CH2OH, dissolves in
water but ethane, CH3 CH3, does not?
7. Three fatty acids form a triglyceride with one glycerol. What similarities would the fatty acids have
with polysaccharides? What differences?

Extending
8. When you consume more food than you require the
mitochondria in the liver are involved in forming
triglycerides from the excess. Why is storage of
triglycerides important?
9. Some excess glucose is stored as glycogen in liver
and muscle. Why is it helpful that some glucose
supplies are stored as glycogen instead of all being
converted to triglycerides (fat)?
10. Prepare a flow chart or comic strip to communicate to elementary-school students the importance
of consuming a proper diet with regard to fat.

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Inquiry Skills

Investigation 2

(Section 1.2)

Testing for Compounds in Foods

Initiating and Planning

Applying Technical Skills

Using Tools, Material, Equipment

Conducting and Recording

Analyzing and Interpreting

Concluding and Communicating

Most of the compounds present in your cells either originate in or are made from the food that you eat.
Therefore you should be able to confirm the presence
of many of these compounds in typical foods.

3.

Use a clean graduated cylinder to measure and add


3 mL of tap water to each of 4 test tubes and label
them Starch Control, Sugar Control, Protein
Control, and Lipid Control. Keep these test tubes
in a rack.

Problem

4.

Use a clean graduated cylinder to measure and add


3 mL of the starch solution to another test tube and
label it Starch Suspension.

5.

Use a clean graduated cylinder to measure and add


3 mL of glucose solution into another test tube and
label it Glucose Solution.

6.

Use a clean graduated cylinder to measure and add


3 mL of albumin (egg white) solution to another test
tube and label it Albumin Solution.

7.

Use a clean graduated cylinder to measure and add


3 mL of vegetable oil and 3 mL of water to another
test tube and label it Oil Suspension.

8.

Arrange each of the test tubes from steps 47 in


the rack beside its control tube from step 3.

9.

Add 3 drops of Lugols iodine solution to the test


tubes labelled Starch Control and Starch
Suspension.

What types of compounds are present in typical foods?

Materials
(per group of 24 students)
 safety goggles
 disposable gloves
(not latex)
 Benedicts solution
 Biuret reagent
 10% NaOH
 starch suspension
 glucose solution
 Lugols iodine
 albumin (egg white)
solution
 assorted food items
such as 2% milk,
whole milk, hard













candy, butter,
sunflower seeds
400-mL beaker
10-mL graduated
cylinder
grease pencil
hot plate
eyedropper
8 test tubes
test-tube holder
test-tube rack
mortar and pestle
plain brown paper
dropper

CAUTION: Wear safety goggles and gloves. Biuret reagent


is toxic and NaOH is corrosive. Do not let these solutions
come into contact with your eyes, skin, or clothing. Use
tongs to remove the test tubes from the hot water bath.

Procedure
1.

Copy Table 1.1 in your lab notebook. You will complete the white sections only.

2.

Prepare a water bath by placing 300 mL of water


into a 400-mL beaker and placing the beaker on a
hot plate. Bring the temperature to a near boil (simmer). Maintain the water level in the bath by adding
more water when necessary. While the water is
heating, read through steps 313 of the procedure.
Prepare a flow chart for the method used in this
Investigation.

TABLE 1.1 Results of Food Analysis

Test Tube
Contents

Test Results
Starch
Test

Sugar
Test

Protein
Test

Lipid
Test

Control
Starch
Suspension
Glucose
Solution
Albumin
Solution
Oil
Suspension
2% milk


CHAPTER 1

The Chemistry of Life

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(continued)

10. Use a clean graduated cylinder to measure and add


3 mL of Benedicts solution to the test tubes labelled
Sugar Control and Glucose Solution. Place the
two test tubes in the water bath and heat for 2 min.
Remove the test tubes from the water bath to
cool.

Analyzing and Interpreting


1. What result indicates a positive test for starch? For
sugar? For protein? For lipid?
2. Which food samples contained the nutrients indicated?

11. To each of Protein Control and Albumin


Solution, add 10 drops of 10% NaOH, followed
by 7 drops of the Biuret reagent.

Concluding and Communicating

12. Place one or two drops of Lipid Control and Oil


Suspension on a piece of plain brown paper.

3. Would eating only hard candy or nuts provide a balanced diet? Explain.

13. Record the results of steps 912 in your data table.

4. What compounds did you discover to be present in


milk? Would milk provide a more balanced diet
than candy or nuts? Why or why not?

14. Test a selection of foods for the presence of starch,


sugar, protein, and lipid following the procedure
outlined in steps 912. Use the pestle to crush solid
pieces of food in a mortar and dissolve the material in about 3 mL of water before testing. Record
the name of the food and results in the data table.

Extending
5. Why do you think it is important to know what
compounds are present in food?
6. What application do you think there is for these
tests? Hint: How carefully did you read your breakfast cereal box this morning?

32

UNIT 1

Cellular Functions

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C H A P T E R S U M M A RY
Key Terms
adenosine triphosphate
(ATP)
amino acid
atom
cellulose
cholesterol
compound
covalent bond
disaccharide
double helix

glycerol
glycogen
hydrogen bond
hydrophilic
hydrophobic
inorganic compound
ionic bond
lipid
molecule
molecular formula

monomer
monosaccharide
nucleotide
organic compound
phospholipid
polar molecule
polymer
polypeptide
polysaccharide
primary structure

quaternary structure
R group
saturated fat
secondary structure
starch
steroid
structural formula
tertiary structure
triglyceride
unsaturated fat

Essential Understandings
1.1 The Chemical Basis of Cells








Atoms are the basic units of matter and are held


together by covalent or ionic bonds to make
compounds.
Molecules can be represented by molecular and
structural formulas.
Many cell compounds are polymers built from
individual units called monomers.
Water is a polar molecule.
Hydrogen bonds form between adjacent water
molecules.
Because of the polarity of the molecule, water has
many chemical and physical properties important
to life on Earth.
Many substances dissolve easily in water.

1.3 Lipids: Long-Term Energy Storage









1.4 Proteins



1.2 Carbohydrates: Short-Term Energy Storage






Monosaccharides are single sugar units and are the


basic unit of carbohydrates.
Disaccharides are made of two monosaccharides
bonded together.
Polysaccharides are made of many monosaccharides bonded together. They are important shortterm energy storage molecules.
Glucose is the monomer for biologically important
polysaccharides. It is a source of energy for cells.

Lipids consist of an assortment of molecules, including fats, phospholipids, and steroids.


Fats store energy in their many bonds and are used
for long-term energy storage in plant and animal
cells.
Fats may contain saturated or unsaturated fatty
acids.
Triglycerides, stored in fat cells, consist of three fatty
acids bonded to glycerol.
Phospholipids are important to cell membranes.




Amino acids are the monomers for polypeptides and


proteins
There are 20 different amino acids. They differ only
in their R groups.
Peptide bonds join amino acids together in a
polypeptide.
Proteins are complex molecules that may be organized into four levels of structure.

1.5 Nucleic Acids





Nucleic acids are composed of nucleotides.


DNA and RNA are examples of nucleic acids. DNA
determines the heredity of the cell; RNA is active in
protein synthesis.
ATP, the energy molecule of the cell, is a nucleotide.

Consolidate Your Understanding


1.

Revisit the Checkpoint on page 5 and review your web


showing how elements interact. Revise your web based
on what you learned in this chapter.

2.

Draw a concept map to describe the components of the


cell using the following key terms as a starting point:
atom, molecule, compound.

3.

Explain how chemistry and biology work together to support our understanding of the cell.

4.

At the end of the Unit you will be completing an


Achievement Task to demonstrate what you have
learned. As you study the Unit content, what methods
can you use to prepare for this task?

CHAPTER 1

The Chemistry of Life

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CHAPTER 1 REVIEW
Understanding Concepts
1. Which of the following combinations does not describe
an organic molecule?
a) carbon, nitrogen, and phosphorus
b) carbon, hydrogen, and oxygen
c) nitrogen, oxygen, and phosphorus
d) phospholipid, carbohydrate, and nucleic acid
2. Water molecules are polar because
a) they have north and south poles
b) the electrons in a water molecule spend more time
around the hydrogen atoms than the oxygen atom,
resulting in the hydrogen atom having a slight negative charge and the oxygen atom having a slight
positive charge
c) the electrons in a water molecule spend more time
around the oxygen atom than the hydrogen atom,
resulting in the oxygen atom having a slight negative charge and the hydrogen atom having a slight
positive charge
d) none of the above
3. The monomer of all biologically important polysaccharides is
a) an amino acid
b) water
c) a phospholipid
d) glucose
4. Sucrose is commonly known as
a) table sugar
b) a monosaccharide
c) a polysaccharide
d) a nucleic acid
5. The
is
a)
b)
c)
d)

short-term energy storage molecule in animal cells


glycerol
glucose
glycogen
maltose

6. Saturated fatty acids


a) contain no double bonds between the carbon atoms
b) contain at least one double bond between carbon
atoms
c) are composed of two fatty acids and glycerol
d) are the energy molecules of cells
7. The individual amino acids making up a polypeptide are
bonded together by
a) hydrogen bonds
b) peptide bonds
c) ionic bonds
d) polar bonds

34

UNIT 1

Cellular Functions

8. Athletic training helps increase your stored


a) fat
b) glycerol
c) glycogen
d) glucose
9. The secondary level of protein structure represents
a) the order of the amino acids in the finished polypeptide
b) two or more polypeptide chains combine to form a
protein
c) 1000 amino acid monomers
d) a primary structure that is folded into a helix or
pleated sheet
10. The differences between DNA and RNA include the following:
a) DNA is double stranded
b) RNA is usually single stranded
c) RNA contains the sugar ribose
d) all of these
11. Explain the difference between the bonds that form between the atoms of a sugar molecule and the bonds that
form between atoms of sodium and chlorine. What type
of compound is sodium chloride?
12. Draw a diagram of the structural formula of glucose.
Label at least one example of the following parts: carbon atom, hydrogen atom, oxygen atom, covalent bond,
shared electron pair.
13. Surface tension is the property that makes water form
drops and allows some insects to walk across the surface of water in a stream. Using a diagram explain
how the polarity of water results in water having surface tension.
14. Diagram the process that allows the cycling of ATP
molecules in cells.
15. Explain why the name carbohydrate is a descriptive
name for any sugar.
16. Distinguish between saturated, unsaturated, and transfatty acids.
17. Give two reasons why synthesis and hydrolysis are opposite chemical reactions.
18. Joining monomers into polymers is called polymerization. Describe the role of polymerization in the formation of carbohydrates, proteins, and nucleic acids.

Contents

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19. Construct a chart to compare the structure and functions


of carbohydrates, proteins, and nucleic acids. Some
points of comparison are: a) building blocks; b) functions
in organisms.
Give examples of each type of molecule.
20. Acid precipitation is a somewhat preventable environmental problem. Outline at least five steps you could take
to cut down your contributions toward the acid rain problem.
21. Investigate the carbohydrate-loading method of training
for a running event. Report back to your classmates on
your findings.
22. Describe the four levels of protein structure and how
each level contributes to the three-dimensional shape of
a protein molecule.

Applying Inquiry/
Communication Skills
23. A company manufacturing cookie dough claims that their
new product is fat-free. Upon scientific examination of
the contents of the product at Health Canada, it is found
to contain glucose, sucrose, glycerol, a number of different amino acids, and several molecules containing
long carbon hydrogen chains and carboxyl groups.
According to these results, should the manufacturer be
marketing the product as fat-free? Why or why not?
24. Explain why the formation of a polysaccharide is a dehydration synthesis reaction. Use a diagram to help explain your answer.
25. Unsaturated fats are turned into saturated fats, in a process termed hydrogenation. Explain why this is an appropriate name for this process.
26. Suggest simple experiments to decide if a solid food-like
substance contains lipids, proteins, or carbohydrates.
27. Suggest a method a scientist might use to distinguish between a molecule that was a monomer and one that was
a polymer.
28. Using the Internet and other sources, research the controversy surrounding Olestra. Write a paragraph that informs others of the controversy about this substance.

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29. What foods have you consumed this week that were high
in saturated fat, unsaturated fat, trans-fatty acids. Based
on what you have learned in this chapter prepare a table
similar to the one below and fill in the appropriate information.
Type of fat

Food with highest


content of fat

Health effects of
the particular fat

30. Moores Law is the premise that the ability to double


the number of transistors on a circuit doubles every 18
to 24 months. Write a testable hypothesis based on
Moores Law and design an experiment to test your hypothesis.
31. Discuss your plans with your teacher in advance, and
then collect precipitation samples from local puddles,
ponds, lakes, or streams. Test the pH of your samples
and present your findings to the class.

Making Connections
32. Write a brief essay explaining how life in Ontario may
be different if ice did not float.
33. Write a supported opinion in favour of one of the
following statements: (1) organic compounds are the most
important compounds in cells, or (2) inorganic compounds, including water, are the most important compounds in cells.
34. Many organizations publish information related to the
amount and types of food you should be eating. These
nutritional guidelines do not always agree. What sort
of characteristics should you use to decide if the recommendations of a particular group are based on fact
or opinion?
35. There is some controversy as to the cause of global
warming. Many scientists believe that the increase in the
greenhouse gas carbon dioxide is to blame for global
warming. Carbon dioxide is released into the atmosphere
by industrial processes, home heating, and automobile
exhaust. It is thought to act like a blanket over Earth
keeping the heat in. Other scientists claim that the temperature increase is just a cyclical variation in our planets
climate, such as the ice ages were. Still other experts are
in doubt as to what the cause is. If you were the minister
responsible for the environment, what recommendations
would you make to the House of Commons regarding the
actions Canada should take to combat the effects of global
warming?

CHAPTER 1

The Chemistry of Life

35

Contents

UNIT
SPECIFIC
EXPECTATIONS
By the end of this unit,
you will be able to:


describe how organelles and other


cell components carry out various
cell processes and explain how
these processes are related to the
function of organs (2.3,
Investigation 1, Investigation 2)

describe the fluid mosaic structure


of cell membranes (2.2)

illustrate and explain important


cellular processes, including their
functions in the cell, the ways in
which they are interrelated, and
the fact that they occur in all living
cells (2.1, 2.2, 2.3)

identify new questions and


problems stemming from the study
of metabolism in plant and animal
cells (2.3)

explain how scientific knowledge


of cellular processes is used in
technological applications (2.2, 2.3)

analyze ways in which societal


needs have led to technological
advances related to cellular
processes (2.2)

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CHAPTER 2

Cell Structure
and Function

FIGURE 2.1 The diagram of a plant cell indicates the importance of the cell wall,
choroplasts, and central vacuole. These are all structures that are not present in
animal cells.

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ll living things are made of cells, but despite the amazing diversity of life
on Earth everything from microscopic bacteria to giant squids to
humans all cells contain similar basic parts. Each part or structure has
a specific job or function to perform. For instance, the cell membrane regulates everything that enters and exits a cell, the nucleus controls all of the
cells activities, and vesicles transport materials from place to place within
a cell. If any structure fails, the operation of the entire cell is compromised.
For example, when a basic cell structure called a lysosome malfunctions in
a human cell, it may cause one of thirty diseases collectively known as
lysosomal transport diseases.
In this chapter, you will be introduced to cells and basic cell theory. You
will study the relationship between surface area and volume, which explains
why cells are so small. You will learn to differentiate between the two basic
types of cells: prokaryotic and eukaryotic. You will investigate the types of
structures mentioned above as well as other important cell structures such
as the endoplasmic reticulum, Golgi complex, and mitochondria. You will
examine how each structure manages a different cell function. As you proceed
through the chapter, you will gain an understanding of some of the serious
health problems that result when any one of the cells structures malfunctions.

Discovering Biology
Cells
What do you remember about cells? You have probably looked at cells under
the microscope in previous science classes. Sketch a diagram of a cell from
memory. Include structures in your drawing and label them. Compare your
drawing with those of other students. Were you reminded of some organelles
you had forgotten by looking at others drawings?

CHECKPOINT
Make a chart to list what
you know about cell structures and how they function.
Structure

Function

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2.1 A Background to Cell Structure


Key Understandings

When you have completed this section, you will be able to:
 explain the cell theory
 describe the relationship between surface area and volume
 understand why cells are small

WEBLINK
Robert Hooke, Antonie van
Leuwenhoek, and Henri
Dutrochet contributed to the
cell theory. Research the role
of each of these scientists and
prepare a written report to
summarize your information.
Begin your research at
www.pearsoned.ca/biology11.

M AT H L I N K
Remember the formulas:
a) Volume of a cube = s3
b) Surface area of a cube = 6s2

Image omitted due to


copyright restrictions.

Cells had been observed since the 1600s,


when Robert Hooke made his first observations of cells in cork, but their importance as the basic unit of life was not
realized until the 1800s when the cell
theory was developed from the work
of many scientists. Schleiden, Schwann,
and Virchow each made a proposal that
contributed to the development of the
theory. Schleiden was the first to observe
that all plant tissue was composed of
cells; Schwann soon extended the observation to animal tissue and then to
all living tissue. Later, Virchow extended
the theory by adding that all cells could
arise only from other cells. Virchows
contribution laid to rest the theory of
spontaneous generation.
Even today, the cell theory is the
foundation used by biologists to try to
understand life on Earth. The modern
cell theory states:

Image omitted due to


copyright restrictions.

All living things are composed of


cells.
Cells are the basic units of living organisms.
All cells come from pre-existing cells.

Cell Size and Shape


Most plant and animal cells are similar
in sizethey are very small, ranging
somewhere between 10 and 100 m. In
this chapter you will be seeing actual
photos taken through a microscope of
cells and cell structures. These photos
are called photomicrographs.
Why are most cells small? There are
good reasons. A cell needs a constant
supply of energy and a method to rid
itself of waste products. Cells obtain energy and get rid of waste products
through their cell or plasma membrane.
It is therefore better for a cell to have the

Image omitted due to


copyright restrictions.

FIGURE 2.2 From left to right Schleiden, Schwann, and Virchow. Each contributed
to the cell theory, in 1838, 1839, and 1858 respectively.

38

UNIT 1

Cellular Functions

Contents

Previous Section

maximum membrane surface area possible, while at the same time minimizing the distance within the cell that
important molecules have to travel.
Minimizing distance also minimizes the
time taken for cell processes. With this
in mind, it is easy to show mathematically why it is better for cells to be small.

a)

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100 m

blue whale
10 m

human
1m

10 cm
chicken egg

Image omitted due to copyright


restrictions.

1 cm

frog egg
1 mm

100 m
plant and
animal cells

b)
10 m

cell nucleus
most bacteria

Image omitted due to copyright


restrictions.

1 m

100 nm

mitochondrion

smallest bacteria
large virus

10 nm

c)

proteins
lipids
1 nm

Image omitted due to copyright


restrictions.
0.1 nm

atoms
1 centimetre (cm)
1 millimetre (mm)
1 micrometre (m)
1 nanometre (nm)

FIGURE 2.3 Hidden life. Microscope enlargements of the point of a pin show living organisms, bacteria, present on an object that we
might think unsuitable for supporting life.
a) 85; b) 425; c) 2100)

= 102 (1/100) metre


= 103 (1/1000) metre
= 106 (1/1 000 000) metre
= 109 (1/1 000 000 000) metre

FIGURE 2.4 Little and big. The size of various objects.

CHAPTER 2

Cell Structure and Function

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As you can see in Table 2.1, smaller


cells, such as those on the right, benefit from a much larger surface area to
volume ratio than do larger cells. In reality, no cells are perfect cubes or

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spheres and a great variety of shapes


exist. For example, human nerve cells
can be very long, but to maintain a high
enough surface area to volume ratio to
survive, they are very slender.

TABLE 2.1 The Effect of Size per Cube Side on Surface Area and Volume

One (2  2  2)-cm cube


Surface Area (cm2)
3

Volume (cm )
Surface Area to Volume Ratio

Eight 1-cm cubes

24

48

96

3:1

6:1

12:1

INFOBIT

Section 2.1 Review

Although most cells are about


the same size, there are exceptions: Mycoplasma (at approximately 0.2 m in diameter) is
the smallest cell yet discovered
and the single-celled
Acetabularia sp. (at 57 cm) is
one of the largest cells.

Understanding Concepts
1. Biologists accept that life begins at the
cellular level of organization. Provide
two pieces of evidence to support this
view.
2. What is the normal size range for most
cells? Explain why it is an advantage
for cells to be small.
3. Calculate the volume and surface area
of 512 cubes with sides of 0.25 cm.

Applying Inquiry/
Communication Skills
4. Two different types of cells have the following dimensions. Cell #1 is 2 mm
 2 mm  8 mm and cell #2 is 1 mm
 2 mm  16 mm.

Investigation
Refer to page 58,
Investigation 1

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UNIT 1

Cellular Functions

Sixty-four 0.5-cm cubes

a) Calculate the volumes of cell #1 and


#2. How do they compare?
b) Calculate the surface areas of the
two cells. How do they compare?
c) Calculate the surface area to volume ratio for the two cells. How do
these values compare?
d) What do the values in c) tell you
about the importance of cell shape?

Use this information to explain how


nerve cells can be very large (up to
1 m in length).
5. Cells were observed as early as 1665.
Since that time, important new discoveries about the cell have been made.
Research and construct a time-line of
observation and discovery.
6. Assume you are a 19th-century reporter assigned to explain the importance of the discovery of cells and the
cell theory. Write a supported paragraph to tell your readers why such
discoveries are important to them.

Making Connections
7.

An understanding of cells informs and


affects everyone.
a) Explain how the cell theory relates
to other living organisms besides
humans, e.g., to a dog or an
amoeba.
b) Describe four ways that cells have
affected your life.

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2.2 Cell Structures


Key Understandings

When you have completed this section, you will be able to:
 distinguish between prokaryotic and eukaryotic cells
 describe how cell structures manage various cell functions
 explain the fluid mosaic structure of membranes

There is no such thing as a typical cell,


but all cells can be classifed according
to certain characteristics. Every organism must be either a prokaryote or a
eukaryote. Prokaryotic cells lack internal compartments and membranebound organelles, and these organisms

are all unicellular. Bacteria and other


similar cells of the kingdoms
Archaebacteria and Eubacteria are the
only prokaryotes. All other cells are eukaryotic and have a membrane-bound
nucleus and organelles. Eukaryotes may
be single-celled or multicellular and in-

Prokaryotes

Eukaryotes

DNA
in nucleoid region
within membrane-bound nucleus

Size
usually smaller
usually larger

Organization
usually single-celled

often multicellular
O2

O2
Metabolism

O2

O2
may not need oxygen

O2

O2

O2
usually need oxygen to exist

Organelles

no organelles

membrane-bound organelles

CHAPTER 2

FIGURE 2.5 Comparison of


prokaryotic and eukaryotic
cells. Prokaryotes, the
Archaebacteria and
Eubacteria, are single-celled
organisms. Eukaryotes may
be single- or multicelled and
include protists, fungi, plants,
and animals.

Cell Structure and Function

41

Contents

Previous Section

WORD ORIGIN

Next Section

clude all protists, fungi, plants, and animals. Protists are organisms like
Amoeba and Paramecium.
Eu is a Greek word meaning good.
Therefore eukaryotes have a good or
real nucleus as well as other cell structures. Eukaryotic cells are divided into
compartments by membranes. These different compartments have specific functions and are called organelles. Each type
of organelle has its own unique function.
Throughout the rest of this chapter you
will learn about the structure and function of the various cell organelles.

Prokaryote is from a mixture


of Latin and Greek; the Latin
Pro, meaning before, and
karyote from the Greek karyon,
meaning kernala reference
to the appearance of the nucleus through early microscopes. The combination of the
two terms indicates that
prokaryotes originated before
cell structures such as the
nucleus evolved.

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allow a sufficient number of food


molecules, such as glucose, to pass in
and must also allow for the prompt removal of waste products, such as carbon dioxide. Without this control the cell
will die.
The cell (or plasma) membrane is
made of a double layer of phospholipid
molecules called the phospholipid bilayer. Because it is too small a structure
to be seen clearly with a microscope, scientists have developed a model to explain what they think it looks like. This
model is known as the fluid mosaic
model. The term fluid is used because
the phospholipid molecules and proteins
that make up the membrane are free
to drift around in fluid motion. The term
mosaic is used to describe the position
of the protein molecules. The molecules
are placed randomly and there is no set
pattern.

Cell (Plasma) Membrane


The cell membrane is the only thing between a cell and its outside environment.
It has a crucial role to play in the life of
a cell: it must control what enters and
leaves the cell. The cell membrane must

THE PLASMA MEMBRANE

phospholipids

cholesterol

cytoskeleton

FIGURE 2.6 The


plasma membrane

42

UNIT 1

A double or bilayer of
phospholipid molecules,
with their hydrophilic
heads facing outward,
toward the watery
environment that lies both
inside and outside the cell,
and their hydrophobic
tails pointing inward,
toward each other.

Cellular Functions

Cholesterol molecules
that act as a patching
substance and that help
the cell maintain an
optimal level of fluidity.

proteins

peripheral
protein

integral
protein

a.

b.

Proteins, which are integral, meaning bound to


the hydrophobic interior of the membrane, or
peripheral, meaning not bound in this way.
Membrane proteins serve four main functions:

a. Structural support,
often when attached to
parts of the cells
scaffolding, or
cytoskeleton.

b. Recognition. Binding
sites on some proteins can
serve to identify the cell to
other cells, such
as those of the immune
system.

Contents

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Waste Not,
Want Not
As it turns out, environmentally
harmful substances that would kill
most organismssuch as crude oil,
gasoline, diesel fuel, and other organic pollutantsserve as a source
of food for other organisms. It is the

Next Section

discovery that certain bacteria and


fungi thrive upon pollutants that
forms the basis for what is known as
bioremediation technology. There
are about 1000 species of bacteria
known to have the ability to break
down toxins and/or pollutants for use
as their food source. They then release far less damaging waste products themselves.
Bacteria produce enzymes that
break down waste materials into substances that they can more readily digest. As the bacteria digest these

The phospholipid bilayer is composed of two rows or layers of phospholipid molecules. The hydrophilic
heads of the phospholipids are found on
the outside and inside of the membranefacing the watery environment
located both inside and outside a cell.

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wastes, they produce more enzymes


to break down more waste. The cycle
continues until all the waste material
is gone. Then the bacteria either
become inactive and/or die from starvation. Companies that specialize in
this form of biotechnology grow and
study many types of micro-organisms, so that they know which type
of organism can be used to effectively
clean up a certain type of industrial
waste.

The hydrophobic fatty acid tails from


each layer face one another in the middle of the membrane (Figure 2.7). If you
disorganize a membrane, the phospholipid molecules will return to their original arrangement because of their
reaction to water. The polar heads will

glycocalyx

sugar
chains

c.

d.

4
c. Communication. Receptor
proteins, protruding out from the
plasma membrane, can be the point
of contact for signals sent to the cell
via traveling molecules, such as
hormones.

d. Transport. Proteins can


serve as channels through
which materials can pass
in and out of the cell.

The glycocalyx. Sugar


chains that attach to
communication or
recognition proteins,
serving as their binding
sites. The glycocalyx can
also lubricate cells and act
as an adhesion layer for
them.

CHAPTER 2

Cell Structure and Function

43

Contents

Previous Section

Membrane Glycoprotein
Chains Play a Key Role
in the Fight Against
Disease
Dr. Harry Jennings of the National
Research Council has contributed to
a medical breakthroughthe production of the first fully synthetic

Next Section

(human-made) vaccine. Dr. Jennings


has spent 24 years developing a vaccine to prevent a disease known as
group B meningitis. Meningitis is a
disease caused by bacteria that kills
about 40 people a year in Canada
about half of whom are infantsand
often leaves the survivors with brain
damage that causes mental retardation and blindness.
Dr. Jenningss research resulted
in the making of a combination carbohydrate-protein molecule that resembles the cell membrane

orient toward the watery environment


while the non-polar lipid tails will mix
with other non-polar molecules.
The protein molecules embedded in
the membrane are called integral or intrinsic proteins. They have different
functions. Some serve as special carriers or transport channels for molecules
that are either too large or too hydrophilic to pass through the phospholipid bilayer. The transport proteins
allow these molecules to enter the cell.
Other membrane proteins have sugar
chains attached to them. These carbohydrate and protein combinations,
known as glycoproteins, act as attach-

polar
head

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glycoprotein chains of the meningitis


bacteria very closely. As a result, cells
from your immune system think that
the meningitis bacteria has invaded
your body and produce antibodies to
fight the bacteria. However, since the
carbohydrate-protein vaccine is
harmless, you gain protection against
meningitis without risk of becoming
ill. Human trials for this vaccine are
currently under way, and if successful, it should become available for
public use soon.

ment sites for molecules that need to


enter or carry a message to the cell. They
are highly specific to each individual and
help the cells of your immune system to
recognize your body cells while also
identifying foreign cells in your body so
that they can be destroyed.
Cholesterol is also found within cell
membranes. Its function is to help keep
the membrane fluid. At low temperatures cholesterol keeps the phospholipids
apart. This keeps the membrane fluid.
At higher temperatures (around 37C) it
attracts the phospholipids and helps
stabilize the membrane.

watery
extracellular
fluid

FIGURE 2.7 The

phospholipid bilayer.
A double layer or bilayer of phospholipids
form the plasma
membrane. The hydrophobic tails form
the interior of the
membrane, while the
hydrophilic heads
point toward the watery environment inside and outside the
cell.

44

UNIT 1

hydrophilic
nonpolar
tails

hydrophobic

hydrophilic
hydrophobic molecules
pass through freely

a) Phospholipid molecule

Cellular Functions

b) Phospholipid bilayer

hydrophilic molecules
do not pass through
freely

watery
cytosol

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Cell Wall
Cell walls are not found in animal cells,
but they are found in Archaebacteria,
Eubacteria, some protists, fungi, and
plant cells. Plant cell walls are mainly
made of the polysaccharide cellulose.
Cell walls are much stronger and thicker
than cell membranes, and in plants provide structural support to the cell. It is
because of cell walls that trees are able
to grow to such enormous heights and
that wood, composed of cell walls with
the compound lignin attached, is as
strong as it is.

Image omitted due to copyright


restrictions.

Image omitted due to copyright


restrictions.
FIGURE 2.8 Strength from

cell walls
a) Cell walls play a role in both
living and dead cells. Here they
make up part of the bark.
b) A tree can reach enormous
heights because of the strength
of the wood, which is mostly
made up of lignified cell walls.

b)

a)

Discovering Biology

A Model of the Cell Wall

Caution: Do not do this activity if you have a latex allergy unless you are sure the balloons
are non-latex balloons.
1. Take a party balloon and blow it up until it bursts.
2. Cut a length from the leg of some pantyhose.
3. Take the same type of balloon as used in Step 1 and put it inside the length of
pantyhose.
4. Blow up the balloon as far as possible. Try to make it burst.
5. Observe the result.
The material of the pantyhose acts like the cell wall and prevents the balloon from
bursting. This is due to the cross-linking of fibres that makes the pantyhose very
strong. In a similar way the cell wall prevents the cell membrane in a plant cell
from bursting. Compare this to the animal cell shown in Figure 3.7, page 71.

CHAPTER 2

Cell Structure and Function

45

Contents

WEBLINK
Penicillin no longer functions
effectively as an antibiotic for
some people. Research why
this is so, as well as three
alternative antibiotics that can
be prescribed. Summarize your
information in a summary
paragraph and data table,
including the name and
description of the alternative.
Begin your research at
www.pearsoned.ca/biology11.

INFOBIT

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Cell Walls and Antibiotics Antibiotics are


medicines that kill bacteria. Many scientific discoveries are the result of hours of
research and countless setbacks. Other
discoveries appear to occur quite by accident. The discovery of penicillin, the first
antibiotic by Alexander Fleming in 1928
is one example of a seemingly accidental discovery. Fleming discovered that one
of his Petri plates growing bacteria had
been contaminated with mould, a type of
fungus. Fleming noticed that no bacteria
were able to grow around the area of the
mould. Rather than throw the plate away,
Fleming investigated the mould further.
His studies revealed that a chemical it

Cell without a nucleus


Mature red blood cells are
unique; they no longer have a
nucleus! These oxygen-carrying cells actually expel their
nuclei to make more room for
oxygen in the cell. This has two
important results. Lacking the
instructions contained in the
nucleus, red blood cells cannot
reproduce themselves and so
new red blood cells are formed
in bone marrow instead. Also,
DNA testing of blood actually
uses the DNA in the diseasefighting white blood cells. No
nucleus means no DNA, so the
red blood cells cannot be used.

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produced was highly effective in killing


bacteria. The mould was later identified
to be a species of Penicillium.
The discovery of penicillin is an
example of how observation can lead to
further experimentation. Fleming was
working against the background of late
nineteenth-century studies in microbiology by Pasteur and others that
had indicated an effect of mould on
bacterial growth. He had himself already
discovered other substances that caused
bacteria to burst. So he was able to
appreciate the importance of an apparently chance observation and to carry
the scientific process forward in his
experiments.
Today it is known that penicillin
works by preventing the formation of
bacterial cell walls. This leads to the
death of the bacteria. Since eukaryotic
cells, including human cells, do not have
cell walls, penicillin targets only the
invading bacteria for destruction and not

nucleolus
nuclear
envelope
DNA

DNA

FIGURE 2.9 The nucleus. In eukaryotic


cells the DNA remains in the nucleus.
Compounds pass into the nucleus
through nuclear pores. The nucleolus
specializes in the production of ribosomal
RNA, a substance found in the ribosomes.
(Transmission electron micrograph
 4400)

mRNA
inner membrane
outer membrane
nuclear pore

46

UNIT 1

Cellular Functions

Image omitted
due to copyright
restrictions.

Contents

Previous Section

the cells of the infected person. Countless


lives have been saved by penicillin since
its discovery. The discovery of penicillin
opened the door for the successful
search for many more antibiotics.
Antibiotics must always be prescribed
and taken with care. For example, some
people are allergic to penicillin.

Nucleus
The nucleus is the genetic control centre of the cell. It is usually spherical
in shape and is often the most easily
seen structure when cells are viewed
through a light microscope. The nucleus houses the cells DNA. In eukaryotes, the DNA is combined with
proteins into a fine, thread-like structure called chromatin. Occasionally,
just before cell division occurs, the
chromatin condenses to form chromosomes. Chromosomes are also visible
through a light microscope. Because
the nucleus is a large structure that is
easily stained and readily visible under
the light microscope, it was one of the
first cell structures to be studied. In
1882 the German scientist Walter
Flemming discovered chromatin as well
as the stages of cell division (mitosis).

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The nucleus is separated from the


rest of the cell by the nuclear envelope,
a double membrane with many nucleospores in it to allow materials to pass in
and out of the nucleus (Figure 2.9). Also
within the nucleus is the nucleolus.
Under the light microscopes the nucleolus appears dense. It is composed of
DNA, granules, and fibres, and is the location where other cell structures called
ribosomes are made. The dense-appearing material contains many copies
of the region of the DNA that determines
the formation of the RNA in ribosomes.

Cytoplasm
The cytoplasm in eukaryotic cells includes
the interior of the cell between the nuclear envelope and the cell membrane.
Once thought to be composed mainly of
fluid, the cytoplasm has been revealed
by electron microscopy to be a highly organized area. Approximately one half of
the space in the cytoplasm is taken up by
other organelles. The other half of the cytoplasm is the liquid portion known as
the cytosol. The cytosol contains a concentrated mix of ions and molecules such
as enzymes, amino acids, ATP, and carbohydrates.

Section 2.2 Review


Understanding Concepts
1.

What two cell structures do most cells


have in common?

2. Describe the structure and function of


a) the cell membrane
b) the nucleus
c) the cytoplasm
3. Explain why the fluid mosaic model
is used to describe the appearance of
the cell membrane.
4. Describe the differences between
prokaryotes and eukaryotes. Relate
these differences to their distribution
on Earth.

Applying Inquiry/
Communication Skills
5. Imagine that your cell membranes suddenly became cell walls made of cellulose. List three possible effects of this
change.

Making Connections
6. In what ways did the discovery of penicillin affect society?
7.

Prepare a cost/benefit analysis of the


use of bioremediation in cleaning the
environment.

CHAPTER 2

Cell Structure and Function

47

Contents

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2.3 Cytoplasmic Organelles


Key Understandings

When you have completed this section, you will be able to:
 describe how cell organelles manage various cell functions
 relate cell functions to the functions of organs

WORD ORIGIN
Vesicle from the Latin
vesicula, meaning little bladder or container.
Endoplasmic from the Greek
endon, meaning within and
plasm, derived from the term
cytoplasm.

The activities in eukaryotic cells are organized in ways that can be compared
to the body as a whole. Using the analogy of the bodys organ systems, structures that perform specialized functions
in cells are called organelles. Your digestive system breaks down food materials into substances accessible to other
parts. There are organelles called lysosomes, that are powerful in digestive
functions within each cell. As your blood
system acts to transport the products of
digestion, so the cells vacuoles and vesicles store and/or transport substances
within the cell. Just as your body has a
system of blood vessels, the cell has
membranous transportation channels
called the endoplasmic reticulum. The

Image omitted due to copyright restrictions.

FIGURE 2.10 Transmission electron micrograph of important nuclear structures.


The arrows indicate nuclear pores. A vesicle (V) approaches the nucleus.

48

UNIT 1

Cellular Functions

mitochondria in the cell use oxygen to


produce ATP. In the process, carbon
dioxide is produced and is excreted
through the cell membrane. This
transport process is similar to the way
that your respiratory system supplies
oxygen and removes carbon dioxide.

Advances in Microscopy
Our understanding of cells and their
functions has increased dramatically due
to improvements in microscopy. The designing of the microscope began with the
work of Dutch lens makers in the 1500s.
Until about 50 years ago scientists were
restricted to using light microscopes.
Clear colour images of living tissue or
prepared and stained non-living tissue,
can be obtained using the light microscope. However, there are limits to the
resolving powerthe ability to distinguish between two closely positioned objects. Also magnification is limited to
about 1000.
The transmission electron microscope (TEM) was invented in 1938 by
Canadian scientists James Hillier and
Albert Prebus, and perfected by John
L. Watson to a point where it was useful for biological research. As the name
suggests, electron microscopes use a
beam of electrons instead of rays of light
to produce an image. The two types of
electron microscopes, scanning electron
microscopes (SEMs) and transmission
electron microscopes (TEMs), work in
different ways and for different purposes. TEMs send a beam of electrons
through a thinly sliced sample of an
object and produce a finely detailed view
of parts of its inner structure. The sci-

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entist must re-create the three-dimensional relationships of the various structures. SEMs scan the outer surface of an
object and produce pictures that look
three-dimensional. Scanning tunnelling
microscopes (STMs), are one of the latest advances in microscope technology
and provide a three-dimensional view of
molecules. (See Section 1.3.)

Vacuoles and Vesicles


Vacuoles and vesicles are both containers, bags made of membrane, filled with
water and dissolved molecules. Vacuoles
are found mainly in plant cells and are
used for storage of starch molecules or
water and to give support to the cell.
They are surrounded by a single-layered
membrane called a tonoplast. Vesicles
are used for transporting materials
throughout the cell rather than for storage and keep the different parts of the
cell in contact.

nuclear
envelope

ribosomes
rough
endoplasmic
reticulum

cisternae
cisternal
spaces

FIGURE 2.11 The rough endoplasmic reticulum: where proteins take shape.
Polypeptide chains made at the ribosomes drop into the cisternal space of the rough
endoplasmic reticulum. The chain then folds up into its protein shape and may undergo
processing; for example, the addition of a side chain of carbohydrate. The protein is then
surrounded by a vesicle and transported to the Golgi complex.

membranes
without
ribosomes

Ribosomes
Ribosomes are dense-looking dark granules located on the surface of parts of the
endoplasmic reticulum and also floating
within the cytoplasm. They are made of
a combination of RNA and protein, and
are the sites where amino acids are assembled into proteins in a process known
as protein synthesis.

Image omitted
due to copyright
restrictions.

ribosomes

Image omitted
due to copyright
restrictions.

cisternal
spaces

a)

b)

Endoplasmic Reticulum
The endoplasmic reticulum is a series
of interconnected small tubes (tubules)
made of membranes that branch out
from the nuclear envelope. Part of the endoplasmic reticulum has ribosomes attached to it. The ribosomes give the
endoplasmic reticulum in this location a
rough-looking appearance; therefore, this
portion is known as the rough endoplasmic reticulum. The rough endoplasmic
reticulum (RER) is where protein synthesis takes place at the ribosomes, particularly the synthesis of those proteins
for use outside the cell (Figure 2.11,
2.12b). Additional membranes are also

FIGURE 2.12 The endoplasmic reticulum. a) The smooth endoplasmic reticulum


lacks ribosomes: it is involved in the synthesis of lipids and carbohydrates. b) The
rough endoplasmic reticulum has attached ribosomes where proteins are synthesized (TEM  90 500)

manufactured on the rough endoplasmic


reticulum, in response to the need for
membranes by other organelles.
The smooth endoplasmic reticulum (SER) lacks ribosomes and takes its
name from its resulting smooth-looking appearance (Figure 2.12a). The function of the smooth endoplasmic
reticulum is to make lipidsincluding
phospholipids and steroids. It also serves
as a storage site for calcium ions.

CHAPTER 2

Cell Structure and Function

49

Contents

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INFOBIT

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Golgi Complex (Apparatus)


Named after the Italian scientist who discovered them, Golgi complexes are numerous and important to the operation
of the cell. They consist of flattened
stacks of membrane, whose function is
to receive, modify, and transport proteins produced by the endoplasmic reticulum. If the destination of the protein is
outside of the cell, the Golgi packages
it into a vesicle and sends it to the cell
membrane for export out of the cell.

DNA segments coding for


fluorescent molecules from a
jellyfish were fused with DNA
coding for proteins of the Golgi
apparatus so that these proteins
would become fluorescent too.
Scientists were then able to
follow the movement of these
proteins in the cell. Scientists
believe that these proteins
were immobilized in the Golgi
complex. Other proteins move
out of the Golgi complex and
head to the part of the cell
where they will carry out their
specific function. It remains a
mystery why some proteins are
not transported.

Lysosomes
Both the Golgi complex and the endoplasmic reticulum produce lysosomes.
Lysosomes are membrane-bound sacs

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that make compartments in the cell to


allow digestion. They contain hydrolytic
enzymes and have a variety of roles.
In unicellular organisms, lysosomes may
be used to digest food, while certain
types of human white blood cells (neutrophils and macrophages) use them to
destroy invading bacteria.
Lysosomes are also used to break
down damaged organelles within a cell.
For example: human brain cells survive
from birth until death but have organelles
within them such as mitochondria and
ribosomes that are usually less than one
month old. Therefore the cells themselves are, with the help of the lysosomes, breaking down old organelles
while continually forming new ones.

from RER
cisternae

cisternal
space

Golgi
complex

Image omitted due


to copyright
restrictions.

vesicle

to plasma
membrane
for export
out of cell

to cytosol

1. Side chains are edited


(sugars may be trimmed,
phosphate groups added).

50

UNIT 1

Cellular Functions

2. Vesicle formed
for protein transport.

FIGURE 2.13 The Golgi


complex. Vesicles from the
rough endoplasmic reticulum
fuse with the Golgi membrane. Side chains may be
modified as the protein
passes through the cisternae
of the Golgi complex. The
protein is then encased in a
vesicle for further transport
inside or outside the cell.

Contents

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Researchers now think that lysosomes may also play a role in the ageing process. Apparently lysosomes
cannot digest all of the outdated material in a cell. As these compounds accumulate within the lysosomes over
time, they cause a decrease in cell functions such as is associated with ageing.

Lysosomes in Human Disease A missing


or defective enzyme in lysosomes causes

Next Section

a number of human diseases known as


lysosomal storage diseases. Among them
is Tay-Sachs disease, a hereditary condition that results in deterioration of the
brain. When working correctly, the enzyme involved breaks down excess fat
in the brain. Without this enzyme, fat is
allowed to build up in the lysosomes
stored within the brain cells. This causes
increasing, irreversible damage, and eventually leads to death at around age five.

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WEBLINK
Research lysosomal storage
diseases. Compile a list of the
types of disease, the specific
causes, and the treatments
available. Begin your research
at the Pearson Education Web
site at
www.pearsoned.ca/biology11.

Investigation

CELLULAR RECYCLING

Refer to page 60,


Investigation 2
worn-out
organelle

lysosome
digestive
enzymes

fusion

digestion

molecules
recycled to
make new
organelles

small
molecules
returned to
cytosol

FIGURE 2.14 Lysosomes:


cellular recycling.

When a lysosome fuses with a


worn-out organelle, its enzymes
break the organelle down into
small molecules that can be returned to the cytosol and used
elsewhere. Lysosomes expel
materials that they cannot digest from the cell. In unicellular organisms lysosmes also
digest food particles for use in
the cell.

wastes expelled
from cell

CHAPTER 2

Cell Structure and Function

51

Contents

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Discovering Biology
Watching a Parameciums Organelles
Interaction between living organisms can show their physiology
1. Prepare and observe a slide of a live Paramecium culture under
the low power objective of a microscope.
2. Obtain a small sample from a yeast solution that has been
treated with an indicator that changes colour as the acidity of
the solution changes. Transfer a small drop of the yeast solution to the edge of the slide using a toothpick.
3. Observe the Paramecium through the microscope for five minutes and record your observations.
What changes did you observe in the Paramecium? What organelles did you see at work within the Paramecium?
Caution: Wash your hands after handling living cultures.

Vett Lloyd, Cell


Biologist
Dr. Vett Lloyd is a professor of cell biology at Dalhousie University in
Halifax, Nova Scotia. Her cell biology
research has focused on lysosome
storage and transport diseases.
Children with these diseases experience a lot of pain and eventually die
of cancer, usually in late childhood.
What happens in these sick children
is that the lysosomes inside their cells
do not work properly, says Lloyd.
One of the roles of lysosomes is
to help your immune system to destroy cancer cells. If a cell in your
body turns cancerous, your immune
system sends out a killer cell that engulfs the cancer cell. Powerful enzymes inside the immune cells

52

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Cellular Functions

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Other diseases such as gangliosidosis, Sly syndrome, and Hurler syndrome


are caused by other defective lysosomal
enzymes. There are approximately 30
human diseases in total involving malfunctioning lysosomal enzymes. The
number of diseases caused by improperly working lysosomes clearly indicates
the importance of this structure to the
cell.
Lysosomes are also responsible for
changes in whole organisms. Examples
of tissues digested by lysosomes are the
tail of a tadpole, any unwanted tissue
during insect metamorphosis, and tissue
that exists between the fingers in the
human embryo, giving them a webbed
appearance.

lysosomes then destroy the cancer


cell. The lysosomes in the sick children, however, lack these enzymes.
Normally, enzymes are delivered
to the lysosomes in tiny cargo packets called vesicles. Unfortunately, in
the children, the vesicles get lost. It
is as if the post office has lost the
package because the wrong address
was written on it. The enzymes
dont get into the lysosomes so the
lysosomes dont work, and if the lysosomes dont work the immune system cells cannot kill the cancer cells,
says Lloyd.
Her first big breakthrough came
a number of years ago when she discovered fruit flies that were dying
from the same lysosome problem that
was killing human children. Lloyd is
now using the fruit flies to help her
in her studies. The big advantage of
using fruit flies is that you can test
the safety and effectiveness of new
drugs on them before you give the
drugs to children. She believes the
fruit flys cells will provide the

answers that will eventually lead to


a cure to this group of dreaded childhood diseases.

Image omitted due to


copyright restrictions.

FIGURE 2.15 Dr. Vett Lloyd studies lysosomal storage and transport diseases.

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Mitochondria
Mitochondria (singular: mitochondrion)
are found in both plant and animal
cells. These organelles play a vital role
in energy-transforming activities.
Mitochondria are composed of an outer
membrane, an inner membrane organized into folds called cristae, and an
inner liquid solution known as the
matrix.
The mitochondrion is the site of cellular respiration in eukaryotic cells. The
process of cellular respiration involves
extracting energy from food molecules
such as glucose and using that energy to
make ATP. In the process CO 2 is produced, to be later excreted by the cell.

mitochondrion
cristae
matria

outer
membrane
inner
membrane

Image
omitted due
to copyright
restrictions.

Chloroplasts
These green organelles, found only in
cells of plants and some protists (like
algae), are responsible for producing
food for most of the life on Earth. The
organelles produce food by the process
of photosynthesis. Photosynthesis
enables plants and some protists to
convert the energy of sunlight into chemical energy in the form of carbohydrates.

A Unique Gift
from Your Mom,
and Her Mom...,
Mitochondria contain their own DNA,
separate from the DNA in a cells nucleus. Unlike nuclear DNA, which is
inherited from both parents, mitochondrial DNA (known as mtDNA),
is inherited along maternal linesor
in other words, from your mother.

food
oxygen

water
carbon dioxide
ATP

FIGURE 2.16 Mitochondria. Mitochondria convert the energy contained in the


chemical bonds in food into a form more easily used by the cell, the ATP molecule.

This unique form of inheritance is


useful for scientists because it allows
them to study human evolution using
changes in the structure of molecules.
Because mtDNA is passed from
mother to offspring it is fairly easy to
trace its course through a population.
For example. although you had eight
great-grandparents, you inherited
your mtDNA from only one of them
(your mothers grandmother on her
mothers side). It is also possible to
analyze mtDNA from sources such as
teeth and bonesoften still available
even from ancient human remains.
Because DNA is known to change
naturally over time (or mutate), at a

fairly constant rate, researchers are


able to compare modern mtDNA with
that from early human remains and
determine how related certain populations may be. For example, scientists recently compared the mtDNA
of prehistoric human bones found in
a cave in Wales with mtDNA from
volunteers throughout Europe. To
their surprise, the closest match was
found belonging to a man living in a
nearby Welsh town. This proved that
the man was a direct descendant
from the cave person and that the
mans ancestors had lived in that
area of Wales for at least 30 000
years!

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Cell Structure and Function

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outer membrane
inner membrane

Image omitted due to copyright


restrictions.

water
carbon dioxide
minerals

sugar (food)
oxygen

FIGURE 2.17 The chloroplast. Surrounded by a double membrane, chloroplasts are


the sites of photosynthesis. Chloroplasts enable plant and some protist cells to use
the energy of sunlight to transform water, carbon dioxide, and a few minerals into
food materials that sustain most of the life on Earth. Micrograph:  13 000

Chloroplasts have a double membrane surrounding them and also have


an internal membrane system containing light-capturing molecules of
chlorophyll. The internal membranes
are interconnected and frequently form
a stack of pancake-shaped structures
called grana (singular: granum). A thick
fluid, the stroma, that contains enzymes
and other molecules, occupies the remainder of the space in a chloroplast
(Figure 2.17).
Chloroplasts are the best known of
a diverse group of organelles called
plastids that occur only in plants and
algae, and some other protists. As well
as photosynthesis in chloroplasts, plastids store nutrients and give colour to
many cells by storing pigment.

The Endosymbiotic Theory Did you know


that you have ancient bacteria living in
your cells? According to Dr. Lynn
Margulis, a professor of botany at the
University of Massachusetts, you do.
Early in her career she developed the
endosymbiotic theory, proposing that
mitochondria and chloroplasts were
54

UNIT 1

Cellular Functions

once free living cells; bacterial cells and


algal cells, respectively. She proposes
that about 1.4 billion years ago, these
bacterial and algal cells found a better
life living inside other cells. There is evidence to support this theory. For example, mitochondria and chloroplasts
reproduce on their own, separately from
the rest of the cell. They contain their
own DNA and ribosomes. Both mitochondria and chloroplasts are about the
same size as bacteria.
Marguliss theory took a long time
to gain acceptance. Many scientists rejected the concept when it was proposed
in the early 1960s. However, Margulis
persevered in her investigations, slowly
accumulating more evidence for her hypothesis and more supporters among
her colleagues.
An accidental discovery by Dr. Kwang
Jeon added strong support to Marguliss
theory. Jeon found that among amoebas
infected with bacteria, some survived the
infection while still harbouring up to
40 000 bacteria living inside of them.
Even more remarkably, he also found,
upon trying to remove the bacteria from

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due to copyright
restrictions.

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due to copyright
restrictions.

Microfilaments
7 nm

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due to copyright
restrictions.

Intermediate filaments
10 nm

Main function: changes


in cell shape

Next Section

Microtubules
25 nm

Main function: maintenance


of cell shape

Main functions: maintenance


of cell shape, movement of
organelles, cell mobility (cilia
and flagella)

FIGURE 2.18 The cytoskeleton. Three types of fibres


form the cytoskeleton: microfilaments, about 7 nm; intermediate filaments, about 10 nm ; and microtubules,
about 25 nm.

their hosts, that the amoeba could no


longer live without the bacteria. Jeon,
then, proved that it is possible for an organism to become dependent on an invading organism, and that, rather than
have the bacteria destroy the amoeba, it
was possible for them to co-exist.

Cytoskeleton
The cell membrane gives very little support to an animal cell. Plant cells have a
cell wall to support their shape. However,
animal cells are able to maintain their
shape due to the cytoskeleton: a supportive network of fine protein fibres.
These protein fibres, the microfilaments,
intermediate filaments, and microtubules
are shown in Figure 2.18. Besides offering support to the cell, the cytoskeleton helps anchor the organelles within
the cytoplasm and may also play a role

in relaying messages back and forth between the cell membrane and the interior of the cell.

Cilia and Flagella


Cilia and flagella are made of fine protein fibres that function to provide
movement to some cells. The most obvious difference between them is their
length: flagella are long; cilia are short.
Also cilia may be very numerous and
cover the cell while flagella are few in
number. Many protist cells use these
structures for locomotion: Paramecium
is covered with tiny cilia that beat in a
coordinated fashion to propel it through
the water, Euglena moves by way of its
two whip-like flagella located at the
anterior. Human sperm cells are able to
move due to the presence of a single
flagellum (Figure 2.19).
CHAPTER 2

INFOBIT
Many of our sensory structures
may have evolved from cilia.
The basic cilia-like form is
found in: the light-sensitive
portions of our eye; the fibres
located in our noses that allow
us to sense smells; and the tiny
hairs of our internal ear that
are used to help us maintain
our balance.

WORDORIGIN
Endosymbiosis from the
Greek symbiosis, meaning living together and endo, meaning within. When combined,
the two words nicely represent
endosymbiosis, meaning one
organism living inside another.

Cell Structure and Function

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a)

b)

FIGURE 2.19 Functions of microtubules

a) Electron micrograph of protist cell covered with hair-like cilia for locomotion.
b) Human sperm cell; notice the long flagellum on the sperm cell.

Section 2.3 Review


Understanding Concepts
1.

What are organelles?

2.

How do lysosomes function to digest


materials?

3.

Describe the location of the endoplasmic reticulum. Make a table to show


the differences in appearance and function between the rough and smooth
endoplasmic reticulum.

4.

Explain the function of the Golgi complex (apparatus).

5.

The table below shows the observations made of three different cells.
Determine as much as you can about
each type of cell. For example, are
the cells prokaryotic or eukaryotic;
plant or animal?

6.

If scientists were able to remove mitochondria or chloroplasts from cells and


turn them into free functioning organisms once more, would this help, hinder, or have no effect upon Dr. Lynn

Cell wall

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UNIT 1

Cellular Functions

Marguliss endosymbiotic theory?


Explain.

Making Connections
7.

A patient being treated for a form of


cancer known as leukemia, had his
spleen removeda common treatment
for this type of cancer. Soon researchers discovered that the mans
spleen cells produced a protein that actually helped fight the cancer. The researchers patented the cells and the
patientupon discovering that his cells
were being used this waysued for a
share of the profits but eventually lost
the lawsuit. Do you think the researchers were correct in their use of
the cells without obtaining the patients
consent? Do you think the patient was
treated fairly? How would you have
voted if you were on a jury deciding
this issue? Provide the reasons behind
your decision.

Cell membrane Chloroplasts Mitochondria

Nucleus

Cell A

Yes

Yes

Yes

Yes

Yes

Cell B

No

Yes

No

Yes

Yes

Cell C

Yes

Yes

No

No

No

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Decision-Making Skills

Case

Study

Ethics and Stem Cell


Research

Defining the Issue

Developing Assessment Criteria

Researching the Issue

Analyzing Data and Information

Proposing a Course of Action

Justifying the Course of Action

Communicating Your Proposal

B A C K G R O U N D I N F O R M AT I O N

Stem cells and their potential uses in the treatment of


disease are the focus of heated social controversy. There
are two types of stem cells, those that are totipotent (that
is, make all cell types), and those that are tissue restricted
(that is, make one type of tissue only). Totipotent cells
(sometimes called embryonic stem cells) have been
thought to provide a way to treat diseases like
Parkinsons, juvenile diabetes, and Alzheimers by regenerating tissue.
Stem cells may be obtained from different sources.
Many people believe that using the stem cells from human
embryos for research and medical purposes is morally
wrong. Others believe that it is the responsibility of the
medical community to use whatever knowledge they possess in their research to decrease human suffering. They
feel society has an obligation to do the research required
for the people who are living with these diseases.
Dr. Mickie Bhatia, Scientist at The John P. Robarts
Research Institute in London, Ontario, has discovered
that when adult blood stem cells are given a protein
present during human blood development earlier in life,
these blood stem cells will grow and reproduce in a similar manner to embryonic blood stem cells. If these blood
stem cells could be induced to form other types of tissue,
such as neural or muscle cells, these adult cells could
provide a potential alternative to the use of totipotent
embryonic stem cells in the treatment of disease. Will the
controversy continue? Wherever ethics come into a question, there will most likely always be differing opinions.

Image omitted due to copyright


restrictions.

FIGURE 2.20 Dr. Mickie Bhatia studies adult blood stem

cells.

Analyzing the Issue


1.

What are the ethical perspectives relating to the controversy about stem cell research?

4.

Research stem cells and their use in the treatment of


Parkinsons disease.

2.

What additional factors influence societys response to


stem cell research? Explain.

5.

3.

Propose what impact Dr. Bhatias discovery may have


on attitudes toward stem cell research and treatment
with stem cells.

Prepare a risk-benefit analysis to summarize your findings. Write a position paper to address the following
question. If faced with a degenerative or potentially fatal
disease, should a person be able to refuse medical help
because of his or her own moral principles if that help
is available to them?

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Inquiry Skills

Investigation 1

(Section 2.1)

Estimating an Objects Size


with the Microscope

Initiating and Planning

Applying Technical Skills

Using Tools, Material, Equipment

Conducting and Recording

Analyzing and Interpreting

Concluding and Communicating

While it may be interesting and informative to view


objects under a microscope, it often difficult to
know the actual size of the object being observed.
Magnification causes us to lose our perspective on
size. In this lab you will learn how to estimate the
size of an object by comparing it with something you
already knowthe diameter of the field of view.

Problem
How is the compound microscope used to estimate
the size of microscopic specimens?

Materials
 microscope
 transparent metric ruler
 prepared slides

Procedure
1.

Obtain a microscope and place a transparent metric ruler on the stage so that it covers about half
of the stage, as shown in Figure 2.21.

FIGURE 2.22 Adjust the position of the ruler so that you


can measure the diameter of the field of view.

4.

Measure the diameter of the low power field to


the nearest tenth of a millimetre. Record this measurement in your notebook.

5.

Use a ratio to calculate the diameter of the high


power field (the magnification of objectives is inversely proportional to the field size).
high power
field diameter

FIGURE 2.21 Set-up


for measuring the diameter of the field of
view.

58

2.

Observe the ruler under low power. Adjust the position of the ruler so that its view is similar to
Figure 2.22.

3.

Move the millimetre ruler so that you are measuring the diameter (width) of the low power field
of view from left to right.

UNIT 1

Cellular Functions

low power
field diameter

low power
magnification
high power
magnification

6.

Record the high power field diameter in micrometres. Show your work.

7.

Estimate the size of objects you view under


the microscope by comparing them with the
diameter of the field of view. For example, if an
organism takes up one-half of a field of view
that is 500 m in diameter, then its size is about
one-half of 500 m, or 250 m.

8.

Obtain prepared slides of various organisms and


practise estimating their lengths and/or widths.
Record the name of the organism or structure you
are viewing and its estimated size in m in the
data table.

9.

Return your microscope and slides to their proper


storage locations once you have finished this activity.

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(continued)

Analyzing and Interpreting

Concluding and Communicating

1. Set up a data table similar to Table 2.3 in your


notebook.

3. How many micrometres are in one millimetre?


4. How many micrometres are in one metre?
5. Describe what happens to the field of view when
you switch from the low power magnification to
the high-power magnification.
6. How many times is the magnification increased
when you change from the low power lens to
the high power lens?
7. How many times is the field diameter decreased
when you change from the low power lens to
the high power lens?
8. Approximately 400 bacteria fit across the field
of view of the low-power lens. What is the estimated size of one bacterium?
9. Approximately six of a certain species of protist
can fit across the high-power field of vision. What
is the size of one protist?
10. If a microscope has a low-power magnification of
100, a high power magnification of 450, and
a low-power field diameter of 1800 m, what is
the high power field diameter in micrometres?
11. If 16 protists fit across a low-power field of view
whose field diameter is 4800 m, what is the
approximate size of each protist?
12. You have determined the field size of the low and
high-power objective lenses. How do you think
you would calculate the field diameter of the
medium-power lens?

TABLE 2.3 Size of Field Diameters

Field
Magnification

Field diameter
in mm

Low power
From measurement:
High power
From calculation:

For calculation, see the equation given in procedure step 5.


2. Gather the necessary information to complete
Table 2.3 and copy it into your notebook. Copy
and complete Table 2.4 in your notebook.
TABLE 2.4 Size of Objects

Name of object

Estimate of objects size

Extending
13. Make a wet-mount slide of a protist culture.
Choose one protist and observe it under low and
high power. Estimate its length in micrometres.

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Inquiry Skills

Investigation 2

(Section 2.3)

Characteristics of Cells
Cells are the basic units of structure and function
for all living things. All cells fall into one of two major
divisionsprokaryotic or eukaryotic. How might you
classify an unknown cell? You will determine the differences through an examination of prepared slides.
You will then use these differences to help you classify a test specimen.

Initiating and Planning

Applying Technical Skills

Using Tools, Material, Equipment

Conducting and Recording

Analyzing and Interpreting

Concluding and Communicating

6. In your notebook, draw and label the appearance


of the specimen under high power.
7.

Repeat steps 36 for the other prepared slides provided by your teacher.

8. Repeat steps 36 for an unidentified prepared slide


provided by your teacher.

Problem

9. Once you have finished the lab, return all of the


equipment to its proper place.

What differences can be observed between prokaryotic and eukaryotic cells?

Analyzing and Interpreting


1. Based on your observations, do all cells have a
common shape? Explain your answer.
2. Under which magnification can you see the different structures?
3. What cell structures were common to all cells?

Materials
(per group)
 microscope
 prepared slides of prokaryotic and eukaryotic cells
CAUTION: Observe proper technique with the microscope
and slides to ensure safe handling of equipment.

Concluding and Communicating


4. What cell structures are found only in eukaryotic cells?
5. Explain how you decided on the cell type of the
unknown specimen.
6. Why do different types of cells have different
shapes and sizes?

Procedure
1.

Set up your data table in your notebook in a manner similar to Table 2.2.

2. Obtain a microscope.
3. Obtain a prepared slide to examine.

Extending

4. In the data table, write the name of the specimen


you are examining. Sketch its shape. Place a check
mark under the cell structures you are able to
identify on this slide. Examine the slide under low,
medium, and high power to help you locate as
many cell structures as possible.

7. The procedure of DNA fingerprinting relies on extracting DNA from the nucleus of a cell in order
to identify a suspect. Explain why DNA fingerprinting will not work if DNA is extracted from a
blood sample that contains only red blood cells.

5. Based on your observations, decide if each cell


is a prokaryote or a eukaryote.

8. Prokaryotes have no nuclear membrane but contain DNA in the cell. How can these cells carry out
cell activities without a nuclear membrane?

TABLE 2.2 Characteristics of Cells

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UNIT 1

Cellular Functions

Prokaryotic or Eukaryotic?

Plastids

Vacuoles

Cytoplasm

Nuclear Envelope

Nucleus

Cell Structures
Cell Membrane

Shape

Cell Wall

Cell Specimen

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C H A P T E R S U M M A RY
Key Terms
cell membrane
cell theory
cellulose
cell wall
chloroplasts
cholesterol
chromatin

chromosomes
cilia
cytoplasm
cytoskeleton
cytosol
endoplasmic reticulum
eukaryote

flagella
fluid mosaic model
Golgi complex
(apparatus)
lysosome
mitochondria
nucleus

nuclear envelope
nucleolus
organelles
photosynthesis
phospholipid bilayer
prokaryote
ribosome

rough endoplasmic
reticulum
smooth endoplasmic
reticulum
surface area
vacuole
vesicle

Cell Organelles in Plant and Animal Cells


Name

Location

Function

Cell (Plasma) membrane


Nucleus
Cytosol
Vacuoles and vesicles
Ribosomes

Surrounds cytoplasm
Within nuclear envelope
Cytoplasm
Cytoplasm
Rough endoplasmic reticulum
Free-floating in cytoplasm
Cytoplasm
Cytoplasm
Cytoplasm
Cytoplasm
Cytoplasm
Cytoplasm
Outside cell membrane
Outside cell membrane
Cytoplasm

Regulates what enters and leaves the cell


Contains the DNA
Fluid containing organelles and important molecules such as proteins
Vacuoles store food or water; vesicles transport molecules
Site of protein synthesis

Rough endoplasmic reticulum


Smooth endoplasmic reticulum
Golgi complex
Lysosomes (in animal cells only)
Mitochondria
Cytoskeleton
Cilia and flagella
Cell wall (in plant cells only)
Chloroplasts (in plant and some
protist cells only)

Processing of proteins
Lipid synthesis
Processing and packaging of protein
Digestion of molecules, bacteria, or damaged organelles
Produce ATP from energy released from glucose
Maintains cell shape and helps hold organelles in place
Permits cell movement
Provides shape and support for the cell
Uses energy of sunlight to produce carbohydrates (photosynthesis)

Essential Understandings


2.1 A Background to Cell Structure







Cells are the basic units of life and are present in


all living things.
Cells come only from pre-existing cells.
Cells are small so that they can maximize their surface area.
An increased surface area helps cells obtain energy
and rid themselves of waste products through their
cell membranes.




2.3 Cytoplasmic Organelles





2.2 Cell Structures




Eukaryotic cells have specialized structures called


organelles.
The phospholipid-containing cell membrane separates the cell from the environment.
In eukaryotes the volume inside the cell membrane
is divided into nucleus, cytoplasm, and organelles.

Prokaryotic cells lack a nucleus and other membrane-bound organelles.

Organelles are structures located within the cytoplasm that perform specialized functions for the cell.
Cell organelles include vacuoles and vesicles, ribosomes, smooth and rough endoplasmic reticulum,
Golgi complex, lysosomes, mitochondria, chloroplasts, cytoskeleton, cilia, and flagella.

Consolidate Your Understanding


1.

Revisit the Checkpoint on page 37 and review your chart


listing the structures and functions of cells. Revise your
chart based on what you learned in this chapter.

3.

Prepare an analogy to describe the structures and functions of the cell to an elementary school class. Suggest
illustrations or models to support your presentation.

2.

Construct a concept map to show the relationship between the following key terms: cell theory, prokaryote,
eukaryote, organelle, cytoplasm, cell membrane, and nucleus.

4.

Reflect on your learning. Explain why theories like the


cell theory are important to the process of scientific
discovery.
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CHAPTER 2 REVIEW
Understanding Concepts
1. The
a)
b)
c)
d)

genetic control centre of the cell is the


nucleus
cytoplasm
mitochondrion
lysosome

9. Under a microscope a cell was found to contain many mitochondria, chloroplasts, a nucleus, a cell wall, cytoplasm,
as well as other organelles. This cell is most likely a
a) bacterial cell
b) human cell
c) plant cell
d) none of these

2. The structure of the cell between the nucleus and cell


membrane is called the
a) mitochondrion
b) cytoskeleton
c) chloroplast
d) cytoplasm

10. Which of the following structures is not involved in cell


support or movement?
a) cytoskeleton
b) cell wall
c) cilia
d) lysosome

3. Which of the following organisms have prokaryotic cells?


a) humans
b) bacteria
c) fungi
d) plants

11. Sketch a typical animal cell to show all of the structures and organelles it is likely to contain. Do the same
for a typical plant cell.

4. As the surface area of a cell increases, the surface to


volume ratio:
a) increases as much as the surface area
b) does not change
c) decreases
d) none of these
5. Cells that need a large amount of energy would usually
contain many
a) mitochondria
b) chloroplasts
c) vesicles
d) Golgi complexes
6. Organisms whose cells do not contain a nucleus are called
a) prokaryotes
b) eukaryotes
c) plants
d) fungi

12. Which structures are found in plant cells but not in animal cells?
13. Explain the difference between the nucleolus and
nucleus.
14. Living cells are sometimes compared to factories. Explain
what part of a cell may match the function of each of
these: security guard, shipping centre, power plant, factory manager, and storage tank.
15. Sketch a diagram of the cell membrane and identify
the structures present. Using your diagram as a reference, explain why the term fluid mosaic model is appropriate to describe the cell membrane as we know it.
16. Prepare a speech for a meeting of cell biologists. The title
of your speech is to be: It is better for organisms to be
made of many small cells than a few large ones.
17. Compare the information obtained from transmission
electron microscope and scanning electron microscope
images.

7. Which structure is the site of protein synthesis?


a) nucleus
b) lysosome
c) smooth endoplasmic reticulum
d) ribosome

18. How did the evidence accumulated by Dr. Kwan Jeon


support the endosymbiotic theory?

8. Where in a cell would you expect to find the cytoskeleton?


a) within the nucleus
b) within a mitochondrion
c) within the cytoplasm
d) between the cell membrane and the cell wall

20. Explain why secretory cells like the thyroid gland cells
might be expected to have an active Golgi complex?

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UNIT 1

Cellular Functions

19. Make a flow chart to show the way that bacteria may be
used to break down waste materials.

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Applying Inquiry/
Communication Skills

24. Prepare a concept map illustrating how the ribosomes,


rough endoplasmic reticulum, Golgi complex, and cell
membrane may function together.

21. Draw a diagram of three cells with the same volume but
different surface areas.
22. a) Complete the following chart in your notes to perform
a mathematical comparison of surface area (S.A.) and
volume (V) for a hypothetical cube-shaped cell.
Dimensions
of cube
cell (cm)

Surface
Area
(cm2)

Volume
(cm3)

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S.A.:
Volume
(ratio)

Index =
S.A./V

05 0.5 0.5
1.0 1.0 1.0

25. Robert Hooke coined the term cells while looking at dead
cork cells through his homemade microscope. Some years
earlier, Dutch tailor Antonie Van Leuwenhoek observed
a number of different living specimens using microscopes
of his own design, but did not describe cells. Why do you
think this is so?
26. Liver cells have hundreds of mitochondria, while fat cells
have only a few. Why do you think there is such a difference between the two cells in the number of mitochondria? Provide reasons for your answer.
27. When a specialized white blood cell defends your body
against bacteria many cell systems are involved in the
process. Set up a T-chart to show the organelles involved
and their functions in defense of the body.

1.5 1.5 1.5


2.0 2.0 2.0
2.5 2.5 2.5
3.0 3.0 3.0

Making Connections
b) Plot a graph of your calculated values for the index
versus the length of cube side of the cube-shaped
cell. Plot the index on the vertical axis.
c) Describe the shape of your graph.
d) Now relate this mathematical relationship to the operation of a cell as it increases in size. Why must
the majority of cells ultimately divide using mitosis?
23. Copy the graph below onto a separate piece of paper.
Add data points to the graph for cubes with sides of
2 cm, 3 cm, 4 cm, and 5 cm. (In order to do this, you
will need to first calculate the surface area for each of
the cubes, and then calculate the surface area to volume
ratio.) Complete the graph and indicate what information can be obtained from the graph.

28. Scientists believe that originally all life on Earth consisted of prokaryotic cells and that eukaryotic cells
evolved later. Based on what you know about the differences between the two cell types, explain why this
view does or does not make sense.
29. a) Explain why an understanding of cell processes is
essential to the development of vaccines.
b) How might this understanding have impact on
Canadas health system and allocation of resources?

Surface area/volume

6
5
4
3
2
1
1

2
3
4
Length of cube side (cm)

FIGURE 2.23

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Cell Structure and Function

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CHAPTER 3
SPECIFIC
EXPECTATIONS

Cell Transport

By the end of this chapter,


you will be able to:


describe how organelles and other


cell components carry out various
cell processes and explain how
these processes are related to the
function of organs (3.1, 3.2, 3.4)

describe the fluid mosaic structure


of cell membranes and explain the
dynamics of passive transport and
the processes of endocytosis and
exocytosis of large particles (3.1,
3.2, 3.3, 3.4, Investigation 1)

design and carry out an investigation on cellular function, controlling


the major variables (Investigation 2)

present informed opinions on advances in cellular biology and possible applications through related
technology (3.1, 3.3)

analyze ways in which societal


needs have led to technological advances related to cellular processes (3.3)

any cellular functions involve the transport of materials in, out, and
through cells. Cells, particularly those in multicellular organisms, are
surrounded by a complex and constantly changing liquid environment consisting of many dissolved molecules: gases such as oxygen, compounds such
as glucose, ions such as sodium, and chemical messengers such as pro-

FIGURE 3.1 Colour enhanced scanning electron microscope image of a lymphocyte,


natural killer cell attacking a cancer cell (orange).

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teins. Literally billions of events involving these various molecules must occur
daily to ensure your survival. The cell membrane plays a vital role in these
events: it regulates what enters and leaves the cell; it ensures the cell receives
a non-stop supply of nutrients from its surroundings; and, at the same time,
it steadily allows waste products to pass through it in order to exit the cell.
In the transport of large molecules and even other cells into the cells
interior, the cell membrane rearranges its structure to form a vesicle.
The membranes of organelles within the cell, such as the mitochondrion
and endoplasmic reticulum, must also regulate what substances enter and
leave them. And the membrane of some organelles, such as the Golgi complex, must not only be able to regulate the passage of molecules, but must
also be able to package, send, and receive shipments from other organelles.
This chapter will outline the transport methods used to move materials
such as nutrients, water, and oxygen into cells, and waste products such as
carbon dioxide, out of cells. It will also highlight new information about some
disease states that have their origins in faulty cell processes.

Discovering Biology
Observing Osmosis
The movement of water through a selectively permeable membrane is called
osmosis.
1.

Draw the apparatus your teacher has set up as a demonstration and


record the original fluid level on your drawing.

2.

Observe the apparatus every 60 s for at least five minutes and record the
change in height of the fluid in the tube.




How would you explain the change in height of the fluid in the tube?
What is happening to the material on the inside of the tube?

thistle
funnel

beaker
containing
water

FIGURE 3.2

CHECKPOINT
Draw a diagram of the cell
membrane to illustrate
what you know about how
this structure functions.

Experimental set-up for observing osmosis.

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3.1 Cell Membrane: Gateway to the Cell


Key Understandings

When you have completed this section, you will be able to:
 relate the fluid mosaic model of membrane structure to the function of membranes
 explain the importance of permeability to transportation within and between cells

WORD ORIGIN
Permeable from the Latin
permeare, meaning to pass
through.

FIGURE 3.3 The


cell membrane. The
cell membrane is
selectively permeable. It freely allows the passage
of fat-soluble substances through
the lipid bilayer
and small non-fatsoluble molecules
through the protein
channels.

The cell membrane plays an essential


role in regulating what enters and leaves
the cell. This role depends largely on its
structure. Because most membranes, including the cell membrane, allow some
substances to pass through them, they
are said to be permeable. In addition,
because most living membranes are able
to control what passes through them,
they are described as being selectively
permeable. Non-living membranes that
prevent some molecules from passing
are called semipermeable membranes.
Both the phospholipid bilayer and
the protein molecules help to control the
passage of materials through the cell
membrane. The construction of the

phospholipids

proteins

UNIT 1

Cellular Functions

glycocalyx

cholesterol
sugar
chains

Communication. Receptor proteins,


protruding out from the plasma
membrane, can be the point of
contact for signals sent to the cell via
traveling molecules, such as
hormones.

66

bilayer is unique. The hydrophilic


phosphate heads point toward the liquid
environments inside and outside the cell.
The hydrophobic fatty acid tails making
up the middle of the membrane,
prevent some molecules from entering the
cell. Because the phospholipids are tightly
packed together, molecules that are too
large cannot pass through this portion
of the membrane. Hydrophilic molecules
that are not fat-soluble cannot dissolve
and pass through the middle fatty acid
portion of the membrane. The protein
molecules embedded in the bilayer provide an entryway for certain small
molecules that cannot enter through the
bilayer portion of the membrane.

Transport. Proteins can


serve as channels through
which materials can pass
in and out of the cell.

The glycocalyx. Sugar


chains that attach to
communication or
recognition proteins,
serving as their binding
sites. The glycocalyx can
also lubricate cells and act
as an adhesion layer for
them.

Contents

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Protein Kinases

For many years the nucleus was considered the exclusive control centre
of the cell. However, within the last
15 years, scientists such as Dr. Tony
Pawson at the University of Toronto,
have learned that the cell membrane
and molecules within the cell, called
protein kinases, have an equally
important role in controlling cell
function and allowing the communication between cells that is necessary

Next Section

for the proper functioning of the


whole organism.
This cell-to-cell communication
functions as follows: messenger
molecules from other cells (often hormones) travel through the bloodstream and then attach to specialized
protein molecules on the outside of
the membrane of the target cell. The
protein receptor molecule, which
spans the cell membrane, changes the
shape of its tail (which sticks into
the cytoplasm). The shape change
then triggers a chain reaction that involves protein kinases in the cell.
Protein kinases transmit the
commands of many hormones that
regulate cellular processes such as
cell division and specialization. Once

Membrane proteins have functions


in addition to transporting molecules.
Some of the proteins provide structural
support to the cell by binding to the
protein fibres of the cytoskeleton. Other
proteins have a communication function.
They receive chemical messengers sent
by other cells. Proteins that have carbo-

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activated by the receptor proteins, the


kinases join together like Lego blocks
to carry the message to the proper
location within the cell and allow the
cell to respond to the command.
The understanding of this
method of cell-to-cell (called
intercellular) and within-cell (called
intracellular) communication has
provided new insights into a number
of human diseases. For example, scientists have learned that many types
of cancers and some types of diabetes
are caused by problems with the protein kinase intracellular communication system. New treatments aimed
at correcting these problems are currently being tested in clinical trials.

hydrate chains attached to them are


involved in communication and cell
recognition. These carbohydrote sugar
chains are called the glycocalyx. Other
cells, such as those in your immune system, use these carbohydrate chains to
recognize a cell or a molecule as being
self or being foreign.

Section 3.1 Review


Understanding Concepts
1.

What is the function of the cell membrane?

2.

Name and describe the molecules that


make up the cell membrane.

3.

Describe the different types and functions of the proteins found in the cell
membrane.

4.

Contrast the terms permeable and


selectively permeable.

Making Connections
5.

Work with a partner to research the


role of protein kinases in cell biology.
Investigate their involvement in a particular disease. Present an informed

opinion on the effectiveness of new


treatments based on knowledge about
protein kinases.

6.

Cholesterol molecules are a normal


part of the cell membranes of mammals; however, some people have high
levels of cholesterol in their blood that
can lead to heart and/or artery disease.
Some doctors have suggested that all
adults should have their blood cholesterol level tested, and those who have
abnormally high cholesterol levels
should be given medication or put on
a special diet. Research the cost to
society if the Canadian government implemented a plan of this nature. Use
a PMI chart to organize the results of
your research.

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3.2 The Movement of Solutes and Water


Key Understandings

When you have completed this section, you will be able to:
 describe how organelles and cell components carry out various cell processes such
as transportation
 explain the dynamics of diffusion and osmosis

Solutes are substances that are dissolved


in fluid to form a solution. The liquid that
the solutes are dissolved in is referred
to as a solvent. Many of the molecules
that must enter or leave cells, such as
glucose, oxygen, and carbon dioxide, are
dissolved in water and can therefore
be referred to as solutes. Many solutes
must constantly make their way into and
out of cells to ensure cell survival.

Investigation
Refer to page 82,
Investigation 2

sa

lt

solute

solvent

water

salt
water

solution

FIGURE 3.4 A solute dissolved by a solvent results in a solution. A small amount of table salt
poured into water results in a solution of sodium
chloride.

Discovering Biology

Diffusion

Particles diffuse along the concentration gradient. Add a drop of


dark food colouring to a beaker or glass of cold water and another
drop to a beaker of hot water. Observe the changes to the appearance of the water over time.

68

What have you just observed in action?

What comments can you make about the speed of the process you have just observed? Suggest an explanation.

How might you test your suggestion?

When did the process appear to stop?

Did the molecules become stationary at this time? Why or why


not?

UNIT 1

Cellular Functions

Diffusion
Particles, even those in solids, are constantly and randomly moving. As a result,
over time, particles tend to spread themselves out evenly. Diffusion is the tendency of particles to move from an area
where they are more concentrated, and
there are more random collisions, to an
area where they are less concentrated and
have fewer collisions (Figure 3.5). When
there is an equal concentration of particles in all areas, equilibrium is achieved.
Movement from an area of higher concentration to one of lower concentration
is known as moving along the concentration gradient. Movement along the
concentration gradient is referred to as
passive transport. A common example
of diffusion occurs when someone is wearing a strong cologne or perfume. Although
the concentrated source is located on their
body, the perfume molecules spread by
diffusion to fill the room.
Diffusion is the driving force behind
the movement of many molecules
through the cell membrane, including
oxygen, carbon dioxide, alcohol, and
small lipids. A number of factors determine whether a molecule can enter a cell
by diffusion. One of these factors is size.
Large molecules cannot squeeze through
the tightly packed phospholipids easily.
Another factor is lipid solubility. If a
molecule cannot dissolve in the oily mixture created by the membrane fatty
acids, it cannot diffuse through the membrane. Physical factors such as the size
of the concentration difference and the
distance the molecule has to travel also
affect the diffusion process.
Your lungs rely exclusively on diffusion to add oxygen to and remove carbon

Contents

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due to copyright
restrictions.

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due to copyright
restrictions.

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due to copyright
restrictions.

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WEBLINK

For simulations of diffusion,


osmosis, and facilitated
diffusion, go to
www.pearsoned.ca/biology11.
a

water
molecules

dye
molecules

FIGURE 3.5 Diffusion. A few drops of red dye added to a beaker of water are initially very
concentrated in one area. Diffusion, the movement of particles along their concentration
gradient from a region of high concentration to a region of low concentration, occurs until an
equilibrium concentration is produced throughout the solution.

dioxide from your blood. The air sacs of


the lungs, called alveoli, and the specialized blood vessels known as
capillaries that surround the alveoli, have
adaptations to speed up the relatively slow
process of diffusion. For example, both
alveoli and capillaries are only one cell
layer thick, providing the shortest distance
possible for the dissolved gases to travel
through the respiratory membrane. Each
alveolus is surrounded by many capillaries, thus increasing the surface area
for diffusion to occur. Since the oxygen
content is higher in the freshly breathedin air of the alveoli than in the deoxygenated blood of the capillaries, the
oxygen travels along this concentration
gradient, leaves the alveoli, and enters the
bloodstream. The carbon dioxide moves
along its concentration gradient from the
blood and into the alveolar air.

Osmosis
Osmosis is a special type of diffusion.
It is the diffusion of water through a
selectively permeable membrane, such

as the cell membrane. Despite the fact


that water molecules are not lipid soluble, they can easily pass through the
phospholipid bilayer. This is apparently
because they are small enough to fit
through gaps created by the moving
phospholipids. During osmosis, water
molecules always pass from the side of
the membrane that has a higher
concentration of water and less solute
concentration to the side that has the
lower concentration of water and higher
solute concentration until equilibrium, if
possible, is established.
The osmotic conditions of the solutions surrounding a cell are given special names. In a hypertonic solution, the
fluid surrounding the cells has a higher
solute concentration than the cytoplasm
of the cell. As a result, water diffuses out
of the cell by osmosis.
In an isotonic solution, the concentration of solutes in the fluid surrounding the cell is the same as it is in
the cells cytoplasm; therefore, the solute concentrations are at equilibrium
and no net movement of water occurs.
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lt

sa

a)

solute

solvent

semipermeable membrane

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In a hypotonic solution, the solute


concentration of the fluid surrounding
the cell is less than that of the cells
cytoplasm. As a result, water diffuses
into the cell by osmosis.
Osmosis is a very important process
in cells. Freshwater organisms generally
have a higher solute concentration inside their cells than outside. As a result,
they are constantly taking on more water
by osmosis and have developed mechanisms to rid themselves of the extra

b)

FIGURE 3.6 Osmosis

a) A semi permeable membrane separates the


chamber on the left, containing water, from the
chamber on the right to which salt is added.
b) Water flows through the membrane in both
directions but there is a net movement of water
along its concentration gradient into the right
chamber.

OSMOSIS

Discovering Biology

Cell Size and Diffusion

The size of a cell affects the rate of diffusion.


Materials

3 different-sized blocks of agar


made with water containing
phenolphthalein
0.4% sodium hydroxide solution

300-mL beaker
test tube holders or tongs
scalpel
metric ruler

CAUTION: Wear disposable non-latex gloves and safety goggles when using sodium
hydroxide. Do not allow sodium hydroxide to come in contact with your skin. If it does,
wash it off immediately. Be careful when using sharp instruments.
1. Obtain and measure the dimensions of three different-sized agar blocks.
2. Calculate and record the surface area-to-volume ratio for each block.
3. Place the three blocks of agar in a 300-mL beaker. Add 0.4% sodium hydroxide
solution until it completely covers the blocks.
4. After 8 min, use test-tube holders or tongs to gently remove the agar blocks
from the solution and then blot them dry. Cut each block in half with a
scalpel.
5. Use a metric ruler to measure the distance the pink material has diffused into
each block and record your measurement.
 What was the diffusion distance in each block?
 Which block had the greatest amount of pink material in it? Can you identify a

pattern between this answer and the surface area-to-volume ratios you
calculated?
 Calculate the rate of diffusion in mm/min.

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UNIT 1

Cellular Functions

Contents

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water. Some unicellular organisms such


as Paramecium have contractile vacuoles
that fill up with water and, when full,
contract. This squeezes the water out of
the organism.
You place your body cells in an osmotic situation when you eat or drink.
For example, when you drink a lot of
water, your blood develops a higher
concentration of water. If the water entered your cells by osmosis, every cell in
your body could be affected. However,
your kidneys regulate the water balance
of your blood, so if there is too much
water in your blood, the kidneys excrete
more water in your urine and in this way
maintain equilibrium between your
blood and your cells.
Osmosis also helps the kidneys if you
dont have enough water in your blood.
Portions of the kidney tubules pass
through areas of high solute concen-

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normal cell
Hypertonic

Isotonic

Hypotonic

Very Hypotonic

The concentration
of solutes outside
is higher than it is
inside the cell.

The concentration
of solutes outside
the cell is equal to
that inside the cell.

The concentration
of solutes outside
is lower than it is
inside the cell.

This cell has burst


due to the large
amount of water
entering.

FIGURE 3.7 The effects of solute concentration on cells

tration. This enables the kidneys to


reabsorb water back into the blood by
osmosis rather than having that water
leave as part of the urine. The ability
to reabsorb water is an important adaptation of all land animals.

Investigation
Refer to page 80,
Investigation 1

Section 3.2 Review


Understanding Concepts
1.

Differentiate between a solute and a


solvent.

2.

Define the term diffusion and give an


example of diffusion in action.

3.

What is meant by the term concentration gradient?

4.

Define osmosis and provide an example of osmosis in action.

5.

House plants will wilt if you forget to


water them. The stems will become
limp. However, a few hours after you
remember to water them they will
appear normal again. Using your
knowledge about the movement of
solutes and water, explain these
observations.

Applying
Inquiry/Communication Skills
6.

If a cell whose cytoplasm was about 1%


solute concentration were placed in a
3% salt solution, what would you
expect to happen? Use a diagram to
explain what would happen.

7.

Before refrigeration was invented,


many foods were preserved by storing
them in salt. Explain why microorganisms may have a difficult time
growing on food preserved this way.
Compare the advantages of salt preservation and refrigeration. Provide two
examples of foods that are preserved
using salt.

Making Connections
8.

Many people suffering from kidney


failure survive through dialysis treatment which artifically cleans their
blood. Most dialysis patients have to
travel to a hospital for treatment, although new technology is enabling
some patients to have dialysis units
in their homes.
a) Explain how this technique depends on diffusion and osmosis.
b) Analyze the social and economic
impact of a treatment like dialysis.
c) Evaluate home dialysis from the aspects of patient care, affordability,
and the health care system.

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3.3 Protein Carrier-Assisted Transport


Key Understandings

When you have completed this section, you will be able to:
 describe how the cell membrane uses proteins to carry out transportation
 explain the dynamics of facilitated diffusion
 compare the processes of facilitated diffusion and active transport
 relate certain disease states to a lack of function of cellular processes
 describe how advances in cell biology can be applied through technology

Facilitated Diffusion
Some molecules cannot travel through the
lipid portion of the cell membrane. They
may be too large or may be hydrophilic.
Many of these molecules enter cells by facilitated diffusion. Facilitated diffusion
occurs when molecules enter cells through
channels that exist in special transport
proteins that span the membrane (Figure
3.8). Transport proteins are specialized
to carry only certain molecules into or out
of cells. Because they only transport
materials along the concentration gradient, no energy from ATP is required to

perform facilitated diffusion. For this


reason facilitated diffusion is a form of
passive transport.
Glucose is an example of a molecule
that is too large to travel through the cell
membrane without one of these special
protein carriers. Since glucose is constantly being used inside cells for energy
to produce ATP, the concentration of
glucose inside cells is usually lower than
the concentration of glucose in the fluid
surrounding the cells. Therefore, glucose
moves along the concentration gradient
and into the cell by facilitated diffusion.

TRANSPORT THROUGH THE PLASMA MEMBRANE


Passive transport
simple
diffusion

Active transport

facilitated
diffusion

phospholipid
bilayer
transport
proteins

a)
FIGURE 3.8

b)

ATP

c)

Transport through the plasma membrane

a) In simple diffusion, molecules move along their concentration gradient.


b) In facilitated diffusion, molecules move along their concentration gradient but pass
through the membrane with the assistance of a transport protein.
c) In active transport, molecules move against their concentration gradient with the
assistance of a transport protein and the use of energy from ATP.

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UNIT 1

Cellular Functions

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Active Transport
Sometimes cells need to move molecules
or ions against a concentration gradient.
Cells cannot rely on any type of diffusion
to do this since diffusion only moves particles from a high concentration to a low
concentration. Therefore, cells have developed another transport method
known as active transport to move
molecules or ions against a concentration gradient.
Like facilitated diffusion, active transport relies on transport proteins to allow
substances to pass through the membrane. This time, however, the molecules
or ions bind to the proteins and are then
pumped across the membrane. Moving
molecules or ions this way is not without

Diabetes: A Problem
with
Facilitated Diffusion

Diabetes is a disease that has a long


history of death and destruction as
well as a long history of research and
discovery by Canadian scientists.
Diabetes, a disease caused by the inability to transport glucose into cells,
currently affects about two million
Canadians.
Diabetics are unable to produce
a protein-based hormone called
insulin that binds to transport proteins on the cell membrane and
allows glucose to enter cells by
facilitated diffusion. Without insulin,
the cells are unable to take up

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its cost: active transport requires energy


released from the breakdown of ATP to
move substances against the concentration gradient.
The sodium/potassium (Na + /K + )
pump in nerve cells (neurons) is an important example of active transport. In
order to function properly neurons must
maintain a higher concentration of
sodium ions outside the cell compared
to inside the cell. They must also maintain a higher concentration of potassium
ions inside the cell compared to outside.
In order to maintain this imbalance, specialized transport proteins in neurons
pump sodium out of the cell and potassium in. See Figure 3.9 for further
explanation.

glucose. This causes the glucose level


of the blood to increase to dangerously high levels when the person
eats a meal. The symptoms of
untreated diabetes include thirst,
moodiness, blindness, circulatory
problems, and unconsciousness leading to death.
The first step in the successful
treatment of diabetes came with Dr.
Frederick Bantings discovery of insulin in 1922 while working at the
University of Toronto with his colleagues Best, Collip, and Macleod.
Banting and Macleod (who provided
lab space and advice to Banting)
shared the Nobel Prize in 1923.
Identifying and purifying insulin allowed diabetics to inject themselves
with insulin after eating. This discovery has been called one of the most
revolutionary moments in medicine
and has saved the lives of an estimated
15 million diabetics worldwide.
Biotechnology has assured a plentiful
supply of insulin through techniques

WEBLINK
Investigate the contribution
of Canadian scientists to
diabetes research. Compile a
timeline of discovery.
Begin your research at
www.pearsoned.ca/biology11.

that enable this human protein to be


made by micro-organisms.
Dr. Michael Smith, another Nobel
Prize winner and Canadian researcher at the University of British
Columbia, contributed to the improved treatment of diabetes. In
1988, Zymogenetics, a biotechnology
research firm he co-founded, used his
Nobel Prizewinning technique to improve the purity of insulin available
for treating diabetics. This was
another important step toward improving the lives of diabetics.
Even more recently, researchers
at Kinetek Pharmaceuticals, a
Vancouver-based biotechnology company, have developed a new treatment that may eventually free
diabetics from their daily ritual of insulin injections. The new treatment
affects signalling pathways within the
cell, between the cell membrane and
the nucleus, and is currently undergoing clinical trials.

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extracellular
fluid

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Na+
K+

Na+

potassium ion

Na+
Na+

phospholipid
bilayer

Na+

Na+

K+

Na+
Na+

K+
Na+

cytosol

sodium ion

ATP

1 Three sodium ions


(Na+) from inside the
cell bind to a transport
protein.

ADP

2 ATP gives up a
high-energy
phosphate group
to bind to the
transport protein.

FIGURE 3.9 Active transport: the sodium-potassium pump

Discovering Biology

3 The binding of phosphate causes a shape


change in the protein.
The channel opens to
the extracellular fluid;
the Na+ binding sites
are lost and the ions
are released outside
the cell; binding sites
for potassium ions (K+)
are created.

A Concentration Situation

The cell membrane controls the movement of ions and molecules.


The graph below shows the concentration of different ions inside an animal cell (in green) and outside the cell (in blue).
Use the graph and what you have read in the previous sections to
answer the following questions:
 Explain which ions are transported into the cell by active
transport.
 Explain which ions are transported out of the cell by
active transport.

160
outside
inside

Concentration (mmol.L-1)

140
120
100
80
60
40
20
0

Sodium

Magnesium

Chloride

Potassium

FIGURE 3.10 Concentration of ions inside and outside the cell.

74

UNIT 1

Cellular Functions

K+

4 Two K+ ions bind to the


transport protein,
resulting in the release
of the phosphate
group from the protein.

5 The loss of the


phosphate group
returns the protein to
its original shape. The
K+ ions are released
inside the cell and the
transport protein is
ready to bind more
Na+ ions.

Cystic fibrosis is due to a faulty active transport protein Cystic fibrosis is a devastating inherited disease that affects about
one in 2500 Canadian children. The disease, characterized by the buildup of
mucus in the lungs and other organs,
slowly destroys lung tissue.
The problem is caused by a faulty
membrane-based protein that should
function to actively transport chloride
ion out of the cell. Due to the defect, less
chloride ion is released than normal.
This results in decreased reabsorption
of sodium ion, dehydration of the membranes lining the respiratory and digestive passages, and the formation of a
thick mucus. The abnormal secretions
also have a reduced ability to kill invading bacteria. A cycle of infection and
inflammation takes place.
Research on cystic fibrosis over the
past twenty years included the 1989 discovery of the gene that causes the defect. Improved antibiotics, physiotherapy
and concentration on improving nutritional health have led to better lung
health and an increased life span. Heart
and lung trasnsplants are also a possible treatment. The estimated median
survival age for people born with cystic
fibrosis in the 1990s is 40 years.

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Section 3.3 Review


Understanding Concepts
1.

Provide an example of a molecule that


must use facilitated diffusion to cross
membranes. Explain why it cannot
enter cells by some other means.

2.

Describe the process of active transport.

3.

Explain why active transport requires


energy in order to function.

4.

Construct a table to show the similarities and differences between diffusion,


facilitated diffusion, and active transport.

Investigate why the movement of these


ions is required to facilitate nerve cell
communication to and from your brain.
Illustrate, using a diagram of the movement of the ions during a nerve impulse.

6.

Making Connections
7.

Applying Inquiry/
Communication Skills
5.

Nerve cells rely on the Na+/K+ pump


in order to function properly.

Each transport protein is specific to the


substance it channels across the cell
membrane. Suggest ways that the specificity of the transport protein for the
molecule being transported is ensured.

Research one of the following: Type I


or Type II diabetes, or juvenile-onset or
mature-onset diabetes. Prepare a brief
report, explaining the importance of diet,
medication, and lifestyle in the management of the form of diabetes you have
chosen to investigate.

3.4 Transport Requiring Vesicles


Key Understandings

When you have completed this section, you will be able to:
 describe the processes of endocytosis and exocytosis of large particles
 explain how these processes are related to the function of organs

Simple diffusion, osmosis, and facilitated


diffusion efficiently transport substances
of a small size through the cell membrane. However, some situations, for example, defence against infection, require
the movement of large particles into the
cytoplasm. Others, for example, the secretion of hormones, require the removal
of large particles from the cell. These situations require the formation of vesicles
and involve some rearrangement of the
cell membrane. Proteins and polysaccharides are examples of very large
molecules that need to pass into and
out of cells. Because these molecules

are too large to fit through a protein carrier they must use another method to
enter or exit the cell.

Endocytosis
Moving material into the cell by
endocytosis involves the pinching in of a
portion of the cell membrane around the
material to be transported into the cell.
The pinched-in portion eventually breaks
free from the cell membrane and forms
a vesicle in the cytoplasm. This allows the
material within the vesicle to travel to its
final destination within the cell.

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WORD ORIGIN
Endocytosis from the Greek,
endon, meaning within, and
kutos, meaning vessel or
cell.

WEBLINK

For animations of phagocytosis,


pinocytosis, receptor-mediated
endocytosis, and exocytosis,
go to
www.pearsoned.ca/biology11.

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There are three types of endocytosis. The first type, called phagocytosis
involves the movement of large
molecules and sometimes even whole
cells into the cells interior. Phagocytosis
literally means cell eating. Specialized
white blood cells, known as
macrophages, may phagocytose whole
bacteria as part of your bodys defence
against disease.
A second type of endocytosis, called
pinocytosis or cell drinking, involves
the transport of liquids into vesicles.
From the descriptions and Figures 3.11
and 3.12, you can see why phagocytosis
and pinocytosis are well named.
The third type of endocytosis is
known as receptor-mediated endocytosis (RME), and it is the way a number of
nutrients and proteins, such as the hormone insulin, enter the cell. During RME,
the molecule that is to enter the cell binds
to special receptor proteins located on the
outside of the cell membrane. These receptor proteins move within the cell
membrane towards other identical receptor-molecule complexes. Once enough
molecules have gathered in an area, the
cell membrane pinches in, forming the
vesicle that will transport these molecules
into the cell. (Figure 3.13)
RME is currently the subject of extensive research. One reason for interest in RME is that cholesterol molecules

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enter cells in this way. Cholesterol, is


necessary for the production of certain
sex hormones, and is itself a component
of cell membranes. However, cholesterol
can lead to heart and artery disease if
too much of it is present in the blood.
Normally, due to RME, excess cholesterol
in the blood enters liver cells and is
safely removed from the blood.
However, some individuals inherit
varying degrees of a disease known as
hypercholesterolemia. In this disease,
the cholesterol receptors on the liver cells
are either absent or greatly reduced in
number. People who completely lack
cholesterol receptors are unable to remove excess cholesterol from their blood
and may die from heart disease while
still in childhood. Others who have fewer
than normal receptors are also at risk,
but may be treated with a low-fat diet
and cholesterol-lowering drugs.
Researchers are trying to determine the
possibility of stimulating the action of
liver cell cholesterol receptors as a way
to treat patients with high blood cholesterol levels.
The rearrangement of the cell membrane needed for vesicle-formation is an
energy requiring process. All three types
of endocytosis involve vesicle formation.
For this reason all three types of
endocytosis require energy from the
breakdown of ATP.

Phagocytosis

bacterium
(or food particles)

pseudopodium

vesicle

FIGURE 3.11 Phagocytosis. In phagocytosis, particles including whole bacteria are


taken in by pseudopodia that surround them. The cell membrane of the pseudopodia
fuses and forms a vesicle that moves into the cells interior.

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Pinocytosis
extracellular fluid

plasma membrane

vesicle
cytosol
FIGURE 3.12 Pinocytosis. In pinocytosis, the cell membrane sinks in to surround
molecules in the extracellular fluid. The membrane then fuses to pinch off a vesicle
that can then move within the cell.

Exocytosis
Exocytosis is the opposite of endocytosis and is used to export large molecules
out of the cell (Figure 3.14 on the next
page). Large molecules such as proteins
are surrounded by a membrane at the
Golgi complex and a vesicle is formed.
In this vesicle the substances make their
way to the cell membrane where the
vesicle membrane joins with the cell
membrane and the large molecules are
expelled from the cell. Exocytosis, like
endocytosis, also requires energy from
the breakdown of ATP molecules.
Exocytosis, like endocytosis, is a
common process in many cells in our

bodies. Hormones are made within cells


but act outside of these cells, sometimes
at a great distance. For example, specialized cells in the pancreas make the
blood-sugar-controlling hormone insulin.
Like other hormones, insulin travels
throughout the body by way of the
bloodstream. The process of exocytosis
carries the insulin molecules out of the
pancreatic cells and allows them to enter
the blood. In another example, digestive
enzymes, made by specialized cells lining the intestine, are released by the process of exocytosis into the interior of the
intestine where they are used to digest
food materials.

Receptor-mediated endocytosis

receptors

captured
molecules

coated
pit
vesicle

FIGURE 3.13 Receptor-mediated endocytosis. Many receptors bind to molecules.


The receptors move laterally within the cell membrane, forming a coated pit that
pinches off to form a vesicle.

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extracellular fluid

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protein

plasma membrane

Image omitted due to copyright


restrictions.

cytosol

transport vesicle
a)

b)
FIGURE 3.14 Movement out of the cell

a) In exocytosis, a transport vesicle moves to fuse with the cell membrane. The cell
membrane rearranges, opens, and releases the contents of the vesicle outside the cell.
b) Material being expelled by exocytosis.

Section 3.4 Review


Understanding Concepts
1.

Describe the process of endocytosis


in its three forms.

2.

Outline the similarities and differences


between phagocytosis and pinocytosis.

3.

Explain the process of exocytosis and


describe two examples in human cells.

4.

Use a T-chart to compare phagocytosis and receptor-mediated endocytosis.

Applying Inquiry/
Communication Skills
5.

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Cells involved in large amounts of


exocytosis, such as pancreatic cells,
may seem to run out of cell membrane
quite quickly if they are constantly
sending pieces of it away with exported
materials, yet the cell membrane remains a fairly constant size. Make a
hypothesis about what processes are

needed to keep the cell membrane at


this constant size. Suggest ways to test
your hypothesis.

6.

Predict the consequences if your body


cells could not perform a) endocytosis
or b) exocytosis.

7.

An amoeba is like a free-living


macrophage. Write a supported paragraph to agree or disagree with this
statement.

Making Connections
8.

Recently it has been discovered that


most cold-causing viruses bind to a
protein on the cell membrane and
enter the cell they are about to infect
by an endocytosis-like process. How
might researchers working for a
pharmaceutical company utilize this
information? Suggest an experiment
that could be performed.

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Decision-Making Skills

Case

Study

Drug Addiction and the Cell

Defining the Issue

Developing Assessment Criteria

Researching the Issue

Analyzing Data and Information

Proposing a Course of Action

Justifying the Course of Action

Communicating Your Proposal

B A C K G R O U N D I N F O R M AT I O N

Whatever the causes of drug addiction, once addictive drugs are introduced into the body, the chemistry of brain cells is altered. Scientists believe that
mesolimbic dopamines, neurotransmitters in the
central nervous system (CNS), control a persons
mood. These specialized molecules control communication from one neuron to another.
Some addictive drugs enhance mesolimbic
dopamines role in the brain, which elevates a persons mood, giving them a high. Heroin, for example, increases the rate at which nerve cells in the
CNS release dopamine. As a result, those who use
heroin experience a brief feeling of extreme euphoria, followed by an extreme low. In order to maintain the same level of response, they must take
higher doses of the drug to achieve the same high.
This is due to the way brain cells adapt to the ongoing use of the drug.
Scientists believe that, over time, the actual number of dopamine receptors is reduced. As a result,
not only does the user require more of the drug more
frequently, but other activities such as being with
friends no longer bring pleasure. This also contributes to the frequency and amount of drug used
by the addict.
The turning point for the addict is the decision
to end the addiction. There are a variety of therapies available to help combat addiction. Some people believe that addiction can be overcome with
willpower and strength of personal character. Others

Image omitted due to copyright restrictions.

FIGURE 3.15 Drug addiction is often complicated by

loneliness.

argue that addiction is an illness, and while


willpower is important in overcoming addiction, addiction requires medical treatment. Recent research
indicates that addiction occurs at the cellular level
in the brain.
Understanding the causes of addiction is vital
in developing treatments to help addicts recover.
Scientific studies that look at the genetic and social
factors influencing addiction may hold the key to
prevention.

Analyzing the Issue


1.

Describe the social and economic factors that influence


the search for a cure to drug addiction.

2.

Research two different drug therapies, one that focuses


on working with the psychology of the addict, and a second that focuses on using drug treatment. Compare the
two therapies by preparing a P M chart. Identify the circumstances under which both would be appropriate.

3.

Plan a class debate that focuses on one of these drug


therapies. As a class, identify the question for the focus
of the debate. Set the criteria you will follow (e.g., time
allotted to speakers, how many participants will speak).
Participants must support their point of view with
research data and real examples.

4.

When the debate has concluded, evaluate the arguments


that were presented.

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Inquiry Skills

Investigation 1

(Section 3.2)

A Study of Osmosis: Determining the Solute


Concentration of Potatoes
Even though potatoes may no longer be growing on
their plants, they are still alive, and their cells, like all
others, have selectively permeable cell membranes. In
this lab you will study osmosis; the diffusion of water
from an area of high water concentration to an area
of lower water concentration. You will determine
how osmosis affects potato sections.

Initiating and Planning

Applying Technical Skills

Using Tools, Material, Equipment

Conducting and Recording

Analyzing and Interpreting

Concluding and Communicating

TABLE 3.1 Solute Concentration

Test Tube Number

10

Volume of Sucrose (mL)

10

Solute Concentration (mol.L1)

0.2 0.4 0.6 0.8 1.0

Volume of Water (mL)

Problems

Part 2: Preparation of the potatoes

What is the solute concentration of potatoes?

Prepare 6 equal-sized potato sections.


cork borer

Materials
















test tubes
10-mL graduated cylinder
2 100-mL beakers
10-mL, 5-mL, 2-mL pipette
test-tube rack
#5 cork borer
single-edged razor blade or scalpel and handle
ruler
centigram balance/electronic balance
potato
1 mol L1 sucrose solution
distilled water
marker for test tubes
grid paper
paper towels
CAUTION: Work carefully with sharp instruments.

Procedure:
Part 1: Preparation of the solutions

potato
board

potato section
FIGURE 3.16 Set up for preparation of potato sections

1.

Set up the data table in your notebook as shown in


Table 3.2.

2.

Use a #5 cork borer to bore a section of potato. Cut


the skin off both ends and then use a razor blade
to trim the section to a length of 4 cm.

3.

Rinse the sections with distilled water and blot them


dry with paper towel.

4.

Use a balance to determine the mass of each potato


section. Record this mass, I, in Table 3.2, and place
each section in its corresponding test tube; that
is, the first potato section you weigh goes into test
tube 1, the second section you weigh goes into test
tube 2, and so on.

5.

After 24 hours, remove each potato section and


gently blot it dry. Record the final mass, F, of each
potato section in Table 3.2.

6.

Calculate the change in mass for each potato section as follows:

Prepare six test tubes, each with a different solute concentration, as follows:

80

1.

Label the tubes #16 and place them in a test-tube


rack.

2.

Using a pipette, add the correct amount of water


to each tube and then the correct amount of
1 mol L1 sucrose solution to prepare the intended
solute concentration for each tube. See Table 3.1.

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(continued)

TABLE 3.2

Test Tube #

Solute
Concentration
(mol.L1)

0.2

0.4

0.6

0.8

1.0

Initial Mass
I (g)

(Final Mass Initial Mass) = (F I ) = change in mass.


(If the potato lost mass, this number should be
negative.)
7.

Calculate the percent change in mass for each


potato as follows:

 F I I   100

= % change in mass

(Any negative signs from step 6 will cause a negative result here, too.)
8.

On grid paper, plot the Percent change in mass vs.


Solute concentration. Include both negative and
positive numbers (if necessary) on your y axis. Use
a line of best fit to represent your data points.

Analyzing and Interpreting


1. Determine the solute concentration of the potatoes
by interpolation (Hint: what percent change in mass
would you expect if the sucrose solution had the
same solute concentration as the potato section?).
2. Indicate on your graph those solutions that were
hypotonic or hypertonic to the potato cytoplasm.
3. Explain your results. For example, explain why
some potato sections gained mass and others lost
mass over the 24-hour period.

Final Mass
F (g)

Change in Mass
(F I) (g)

Percent Change
in Mass
(F I)
 100
I

Concluding and Communicating


4. Do you think your experimental results are accurate? Explain why or why not.
5. Describe possible changes to the procedure of this
lab that would produce more accurate results.
6. You can restore wilted flowers or vegetables by
soaking them in water. From your knowledge of
osmosis, would it be better to soak them in distilled
or tap water? Explain.

Extending
7. Explain why it is important for intravenous fluids
to be of the same solute concentration as human
blood.
8. If you prepared a solution with the same solute concentration as you determined in question one, what
change in mass would you expect to find from a
potato section that had soaked in that solution for
24 hours? Explain your answer.
9. Road salt that has been accidentally spilled on grass
often kills the grass. Use the knowledge you have
gained in this investigation to help explain why this
happens.

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Inquiry Skills

Investigation 2

(section 3.2)

Effects on Permeability
Your teacher will demonstrate a model of a selectively permeable membrane made from simple household materials. The demonstration will consist of a
solution of cornstarch added to a plastic bag that is
placed in a beaker of distilled water with 20 drops of
iodine added to it.

Problem
What factors or variables might influence diffusion or
osmosis in this experimental system?

Experimental Design

Initiating and Planning

Applying Technical Skills

Using Tools, Material, Equipment

Conducting and Recording

Analyzing and Interpreting

Concluding and Communicating

Analyzing and Interpreting


1. What can you conclude about the plastic bag used
in this experiment?
2. Explain, using your knowledge of diffusion, how
the factors you investigated influenced diffusion or
osmosis in this system.
3. How would the rate of diffusion change if some of
these factors were applied together?
4. Suggest two ways of changing the rate of diffusion.

Concluding and Communicating

1.

Describe what you observe from the demonstration.

5. What criteria did you apply to developing your procedure?

2.

Write a list of the variables that you think might influence the diffusion or osmosis across the membrane.

6. Describe which observations you felt provided evidence as to how much diffusion or osmosis had
taken place.

3.

Write a hypothesis for how each variable would affect the movement of particles.

7. Account for any experimental errors that may have


affected your conclusion.

4.

Design a procedure to test the hypothesis about each


variable.

8. Describe the changes, if any, you would make to


your procedure if you repeated your experiment.

5.

Have your teacher check your procedure before you


proceed with your investigation.

Extending

Present the results of your investigation in a clear


and well-organized manner. Use a data table and
graphs.

9. Using what you have learned from this activity, devise a method to get rid of unwanted weeds in the
cracks of a driveway.

6.

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C H A P T E R S U M M A RY
Key Terms
active transport
concentration gradient
diffusion
endocytosis

exocytosis
facilitated diffusion
osmosis
passive transport

permeable
phagocytosis
pinocytosis
selectively permeable

sodium potassium pump

Summary table
Name of Transport Method

Description

Diffusion

Movement of molecules from an area of high concentration to an area of low concentration (along a
concentration gradient) until equilibrium is established

Osmosis

Movement of water along a concentration gradient until equilibrium is established

Facilitated Transport

Movement of large or polar molecules through a membrane along a concentration gradient by


means of a carrier protein. This method does not require energy from ATP.

Active Transport

Movement of molecules through a membrane against a concentration gradient by means of a carrier


protein. This method requires energy from ATP.

Endocytosis

The cell membrane forms a vesicle around large objects that must enter the cell. This method
requires energy from ATP.

Exocytosis

A vesicle fuses with the cell membrane to rid the cell of large objects. This method requires energy from ATP.

Essential Understandings
3.1 Cell Membrane: Gateway to the Cell


The cell membrane controls movement of substances


into and out of the cell.

In active transport, cells use energy to move substances against their concentration gradients.

Active transport requires the use of carrier proteins


in the membrane similar to those used in facilitated
diffusion. It requires energy from ATP.

3.2 The Movement of Solutes and Water




Some substances pass through the cell membrane


by diffusion, the movement of a substance from high
to low concentration.

Water enters or leaves cells by the process of osmosis, the diffusion of water through a selectively
permeable membrane in response to its concentration gradient.

3.4 Transport Requiring Vesicles




Endocytosis without a transport protein occurs in


one of two forms: phagocytosis, the intake of large
molecules or whole cells, and pinocytosis, the
intake of liquids.

Some molecules enter the cell by receptor-mediated


endocytosis involving a membrane transport
protein.

Exocytosis involves the export out of the cell of large


molecules such as proteins.

Both endo- and exocytosis require energy from ATP.

3.3 Protein Carrier-Assisted Transport




In facilitated diffusion, substances move from regions of high concentration to low concentration by
means of carrier proteins in the membrane. No energy use is needed.

Consolidate Your Understanding


1.

Revisit the Checkpoint on page 65 and review your diagram of the cell membrane. Revise your drawing based
on what you learned in this chapter.

2.

Construct a concept map to show the relationship between the following key terms: cell membrane, permeability, diffusion, molecules, concentration gradient,
osmosis, facilitated diffusion, active transport, endocytosis, exocytosis, glucose, and proteins.

3.

Cellular biologists require a variety of employability skills.


Research careers in cellular biology and list what you
think are the five most important skills cellular biologists require. Explain your choices.

4.

Reflect on your learning. Evaluate the skills you used


to complete the Investigations in the first three chapters
of the Unit. Begin a database inventory of lab skills
that you can add to throughout the year.
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CHAPTER 3 REVIEW
Understanding Concepts
1. The process in which molecules of a substance other
than water move from an area of higher concentration
to an area of lower concentration is called
a) osmosis
b) diffusion
c) selective permeability
d) active transport
2. Energy from ATP is needed in
a) active transport
b) diffusion
c) facilitated diffusion
d) osmosis
3. Materials that cannot diffuse through the cell membrane
can be brought into the cell by
a) endosymbiosis
b) osmosis
c) endocytosis
d) exocytosis
4. In the fluid mosaic bilayer, the term fluid refers to the
a) shifting phospholipids in the cell membrane
b) the fluid surrounding the outside of the cell
c) the fluid portion of the cytoplasm known as the
cytosol
d) the liquids that enter the cell by the process of
pinocytosis
5. Protein molecules embedded in the cell membrane
may
a) function as transport proteins to help molecules
enter and exit cells
b) bind to the cytoskeleton to provide structural
support
c) have carbohydrate chains that are involved in cell
communication attached to them
d) all of these
6. Solutes are
a) fatty acid molecules present in the cell membrane
b) substances dissolved in a fluid
c) the liquid portion of a solution
d) molecules that can only move against the concentration gradient
7. Molecules that can diffuse through the cell membrane
are
a) small
b) lipid soluble
c) water soluble
d) both a and b

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8. Endocytosis is used to bring _______________ molecules


into cells.
a) small, lipid soluble
b) water
c) large
d) oxygen
9. Facilitated diffusion differs from diffusion because in facilitated diffusion
a) energy from ATP is required
b) protein carriers are used
c) molecules move against the concentration gradient
d) smaller molecules are transported
10. Active transport differs from facilitated transport, because in active transport
a) protein carriers are used
b) energy from ATP is required
c) molecules are moved against the concentration
gradient
d) both b and c
11. Explain why you agree or disagree with the following
statement: Membranes are the most important structures in cells.
12. What would happen if a solution with a higher concentration of water than is in your body cells was added to
your bloodstream? Explain your answer.
13. Write a story entitled: A Day Without Diffusion.
14. Explain why the phospholipid heads of the cell membrane phospholipids are always pointing toward the cytosol or the fluid surrounding the outside of the cell, while
the tails are always pointing toward the middle of
the membrane.
15. Soft drinks and other beverages contain different concentrations of solutes. Some of these drinks have low solute concentrations and, as a result, are a source of water
for your body cells. Other drinks have a high solute concentration and can dehydrate your body cells. Which of
these drinks should be marketed as thirst quenchers?
Explain your answer.
16. If cell membranes were completely permeable, what
effect would this have on cells?
17. Living yeast cells placed in a particular type of red dye
(called Congo red) remain colourless. However, dead
yeast cells placed in the same dye turn red. Explain
this observation.
18. In this chapter the structure of the cell membrane was
considered in detail. All membranes within cells have
similarities. What differences would you expect to find
among membranes in the interior of the cell?

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19. A beaker containing two salt solutions is divided by a


membrane. The level of solution is higher on the right
of the beaker than on the left side. The membrane is permeable only to water. Which side of the beaker originally
contained a hypertonic solution? Explain your answer

23. Draw one diagram to illustrate active transport and


another diagram to illustrate facilitated transport. Label
the diagrams and indicate clearly how the two types of
transport differ.
24. The red blood cell in humans behaves as an indicator of
the concentration of a solution. Justify this statement.
Use a series of diagrams to support your position.

20. The graph below shows the relative sizes of some


molecules that can diffuse across a cell membrane.
Predict which substances will diffuse across the membrane the most quickly, the most slowly, and which will
diffuse across at about the same speed. Explain your answers in each case.

25. Using the information gathered in question 24, discuss


the statement: Human life depends on the integrity of
the red blood cell membrane.
26. Design an experiment to determine the water concentration of an uncooked French fry. As a hint, remember that potatoes are made of cells with cell membranes,
and will either gain or lose water due to osmosis.

carbon dioxide
Substances tested

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alcohol

glucose

27. Prepare a working model of the cell membrane. Use materials such as Styrofoam, marbles, string, thread spools,
or other equipment. Label the structures that you are using
to represent the phospholipid bilayer, transport proteins,
etc. Add the functions of each structure as well.

glycerol
oxygen
water
0

FIGURE 3.17

50

100

150

200

Relative size of molecules

Applying Inquiry/
Communication Skills
21. Design an experiment to test the effect of temperature
on the rate (speed) of diffusion. Use the following materials in your experimental design: food colouring and
three beakers of water. One of the beakers is at room
temperature, the other is filled with ice-cold water and
the third is filled with hot water. Predict what will happen to the water and include an experimental control.
22. The container in the following diagram has a selectively
permeable membrane separating two solutions. Assume
that the starch molecules are too large to pass through
the membrane. What will happen to the water level on
either side of the membrane? Explain your answer.

semi permeable membrane

pure
water

starch
solution

28. The inside of your stomach is very acidic. This acid


condition is created by some of the cells lining your stomach; they pump hydrogen ions into your stomach against
the concentration gradient.
a) What process is involved in creating the acidic environment of your stomach?
b) Research how surrounding cells are protected from
the effects of low pH.
c) Predict the result of problems with this protection
mechanism.
Write a supported paragraph on the environment of the
inside of the stomach.

Making Connections
29. One way of growing crops in particularly dry areas of
the country, such as the prairie provinces, is to irrigate
the crops. However, the water tends to contain salts that
are left behind in the soil as the water evaporates. Based
on what you know about the movement of salts and
water, explain what might occur as a result. Predict the
long-term economic effects on the area. Propose solutions to this problem.
30. Protein kinases, the important molecules of communication within cells, are being heavily researched because
of the possibility that they can be used to stop the spread
of cancer and treat diseases like diabetes. Propose a way
to prioritize the focus of research on specific diseases.

FIGURE 3.18

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CHAPTER 4
SPECIFIC
EXPECTATIONS

Cells at Work

By the end of this chapter,


you will be able to:


describe how organelles and other


cell components carry out various
cell processes and explain how
these processes are related to the
function of organs (4.3, 4.4)

explain the flow of energy between


photosynthesis and respiration (4.5)

compare anaerobic respiration and


aerobic respiration and state the
advantages and disadvantages for
an organism or tissue of using either process (4.5)

illustrate and explain important cellular processes including their function in the cell, the ways in which
they are interrelated, and the fact
that they occur in all living cells
(4.1, 4.2, 4.3)

identify new questions and problems stemming from the study of


metabolism in plant and animal
cells (4.2, Investigation 1,
Investigation 2)

explain how scientific knowledge


of cellular processes is used in
technological applications (4.2, 4.3,
4.5)

undamental molecular principles and mechanisms control energytransforming activities in all living things. Most life on Earth depends on
the sun, the energy source for photosynthesis. The amazing amount of energy provided daily by the sun is about 15 billion times more than the total
yearly amount of electricity generated in Canada. Photosynthesis is the

Catch: Cells 60

FIGURE 4.1 Almost all life on Earth depends on the energy of the Sun. This elk is
a herbivore and depends on vegetation for food.

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process that plants, some bacteria, and some protists use to capture the suns
energy and produce carbohydrates. Only about 1% of the suns energy is
actually captured through photosynthesis.
Plants are not the only organisms to benefit from this arrangement.
Although photosynthetic organisms can make their own food, other organisms must obtain their food in some other way. This is usually by eating plants
or eating other organisms that eat plants, or both. This chain of consumption means that practically all living things on Earth rely on the Sun as their
ultimate energy source.
Life also depends on the interconnection between the energy-converting
systems of photosynthesis and cell respiration. The products of photosynthesis, oxygen and sugars, are the reactants for cell respiration and the products of cell respiration, carbon dioxide and water, are reactants in
photosynthesis. This chapter will focus on ways in which cells work to
convert energy and to use the energy in protein synthesis.You will also be
introduced to the alternative methods some cells have developed to metabolize nutrients.

Discovering Biology
Identifying a Substance Produced During
Energy Reactions in Cells
Every reaction in your body uses reactants and produces products that
must be reused or removed. Perform these tests to identify end products of
metabolism.
1.

What happens when you exhale on the surface of a mirror? What substance forms on the surface of the mirror?

2.

Place a plastic bag over some leaves on a plant and seal the bag with a
tie or elastic band. Place the plant in sunlight. What substance eventually forms on the inside of the bag?

What substance have you identified as a product of cell metabolism?

CHECKPOINT
Draw a cycle diagram to
show what you know about
the stages of photosynthesis. (Your diagram may
include more stages than
are shown in this example.)

Photosynthesis

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4.1 Cell Reactions and Energy


Key Understandings

When you have completed this section, you will be able to:
 list the fundamental molecular principles and mechanisms involved in energytransforming reactions in cells
 describe how ATP functions as the energy molecule of cells

Thousands of different chemical reactions occur constantly within cells. The


term metabolism refers to the sum of
these chemical reactions. These reactions are crucial to providing cells with
energy. Recall that endergonic reactions
require energy in order to proceed. In
fact, the term endergonic means energy
in. Most biological endergonic reactions
produce molecules containing covalent
bonds that store energy. For example,
photosynthesis is a series of endergonic
reactions that produces energy-rich glucose molecules.
Exergonic reactions release energy;
the term exergonic means energy out.
Cells use an exergonic reaction, known
as cellular respiration, to release useable energy from carbohydrates.
Cellular respiration is the name for a
series of reactions in cells that release
energy from glucose molecules to form
molecules of adenosine triphosphate
(ATP). ATP serves as a manageable form
of chemical energy for the cell to use.

FIGURE 4.2 Energy storage


and release. Energy is
needed to build up complex
molecules like glycogen from
simpler molecules like
glucose. Such an anabolic
reaction is endergonic, or
energy-requiring in nature.
Energy is released in the
breakdown of complex
molecules into simpler ones.
Such catabolic reactions are
exergonic or energy-releasing
in nature.

glycogen
molecule

ENDERGONIC
REACTION

ENERGY

IN

ENERGY

OUT
EXERGONIC
REACTION

glucose
molecules
UNIT 1

ATP is a molecule made from a nucleotide. It consists of adenine, the fivecarbon sugar ribose, and three phosphate
groups. It is the energy molecule of cells
and is necessary for cell membrane functions like active transport and also for
muscle contraction.
ATP is well suited to its role as the
energy molecule. It contains specialized
bonds, known as high energy bonds, between its phosphate groups. It is also a
small molecule and releases energy in
small enough quantities to be useful to
the cell. Cells are very efficient in their
energy use. Consider a carbohydrate such
as glucose to be equivalent to a dollar coin
and the smaller ATP molecule to be equivalent to a penny. When the cell needs energy, it can spend an appropriate number
of small ATP molecules and not waste
extra energy by spending the larger carbohydrate or lipid molecules.
When energy is needed for a reaction in a cell, the bond is broken between
the second and the third phosphate
group in the ATP. Once this phosphate
has been removed, the molecule has two
phosphates and is referred to as adenosine diphosphate or ADP. The result of
this conversion is the release of about
30kJ of energy per mole of ATP. This reaction is commonly represented as
ATP ADP  P  Energy

Product
contains more
energy than
the reactants.

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ATP: The Energy


Molecule of the Cell

Cellular Functions

Product contains
less energy than
the reactants.

ADP molecules can be converted


back into ATP. Cellular respiration is the
process involved in turning ADP back
into ATP. The relationship is often shown
as a cycle.

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NH2
Adenine

O
N

ON

Adenosine

O
O

Ribose

OH

O
O

P
O

Phosphate groups

OH
ATP

Energy is stored.

 Energy

N
O
ON

O
O

O
OH

ADP

NH2
N

Energy is released.

FIGURE 4.3 Energy release from breakdown of


ATP. ATP stores energy in chemical bonds. When
the bond between the second and third phosphate groups of ATP is broken, the phosphate
group separates with the release of energy. ATP
becomes ADP. If ADP picks up another phosphate group, the reaction is reversed.

O
O

 Energy

OH

Section 4.1 Review


Understanding Concepts

Activity

1.
2.

Define metabolism.

kJ consumed per hour


by an average person

running

3260

walking

660

3.

Describe and give an example of an exergonic reaction.

Describe and give an example of an endergonic reaction.

4.
5.

List the components of an ATP molecule.

6.

Write the equation for the breakdown


of ATP, and list some of the cell functions that can occur due to the energy
released.

7.

Most exergonic reactions are also


catabolic and most endergonic
reactions are anabolic. Justify this
statement.

swimming

Why is ATP well suited for its role as


the energy molecule in cells?

Applying Inquiry/
Communication Skills
8.

cycling

The average adult person requires


9000 kJ of energy per day. If your diet
provides you with 10 500 kJ of energy

340
2240

per day, how long would you have to


exercise each day to burn off the extra
energy by a) running; b) walking;
c) cycling; d) swimming? Use the table
above to help determine your answer.

Making Connections
9.

For an organism to survive, what


would you predict about the number
of endergonic reactions versus the
number of exergonic reactions occurring in its cells? How might you extend
this reasoning to the worldwide
depletion of fossil fuels? Present a supported opinion.

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4.2 Enzymes
Key Understandings

When you have completed this section, you will be able to:
 describe the importance of enzymes to the metabolic reactions of all living cells
 understand why enzymes act on specific reactions

INFOBIT
Some enzymes require helper
molecules called coenzymes in
order to function properly.
Vitamins often function as
coenzymes. This is why an appropriate amount of vitamins is
important in the diet. A lack of
vitamins in the diet can cause
diseases such as scurvy, rickets, or certain forms of anemia.

WEBLINK
Enzymes can be used in cleaning up oil spills on the ocean
by metabolizing or breaking
down organic chemicals.
Research how this process occurs and describe the process
using a flow chart diagram.
Begin your research at
www.pearsoned.ca/biology11.

Enzymes are specialized protein


molecules that function as biological catalysts. Catalysts facilitate chemical reactions. Enzymes allow reactions to be
completed up to 10 billion times faster
than they would be without the presence
of the enzyme. Life on Earth depends on
enzymes, because although essential reactions could still occur without them, the
reactions would not occur fast enough to
maintain life.
Enzymes speed up reactions by
binding to the reactants known as
substrates. The enzyme-catalyzed
reaction occurs at a location on the
enzyme known as the active site. The
joining of the enzyme to the substrates
produces an enzyme-substrate complex. It is during the formation of the
enzyme-substrate complex that the reaction occurs. Following the reaction,
the enzyme releases the products. See
Figure 4.4. Enzymes are reusable, so
once the products are released, the enzyme is ready to bind to more substrate.
Each enzyme generally catalyzes
only one chemical reaction. As a result,
enzymes are said to be specific to their
particular substrate(s). Recall how structure is critical to any proteins function.
Enzyme specificity occurs because the
three-dimensional shape of the active

enzyme

site of an enzyme is designed to precisely


fit and accept the substrate molecule(s).
This observation has led to what is
known as the lock and key model of
enzyme action. Once the key or substrate is in place in the lock, or enzyme
the chemical reaction can begin.
Occasionally, a molecule similar in
shape to the substrate may bind to the
enzymes active site, preventing the
actual substrate molecule from binding.
Such molecules are known as competitive inhibitors; they compete with the
substrate for the active site of the enzyme and if they bind to the enzyme,
they inhibit its function. The poisons
cyanide and arsenic work in this way. If
present in the body, they compete with
the intended substrate, bind to key enzymes involved in important metabolic
pathways and prohibit them from functioning. This inhibition leads to death
if not treated immediately.
By binding to their substrates,
enzymes are able to lower the amount
of energy that must be supplied for the
reaction to occur. This energy, known as
activation energy, can be compared to
a barrier that must be overcome in order
for a chemical reaction to occur. Figure
4.5 compares the activation energy with
and without an enzyme present. The

enzyme-substrate
Complex

Substrate

FIGURE 4.4 An enzyme-catalyzed reaction. The intermediate form,


the enzyme-substrate complex, is short-lived.

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Canadian
Biotechnological
Breakthrough
Many species of micro-organisms
produce enzymes that are important
in cleaning up waste materials
including oil spills and other toxic
wastes. An enzyme known as
xylanase is produced naturally
by fungi such as Trichoderma
harzianum and bacteria such as
Bacillus circulans. Xylanase was
being used in pulp and paper mills to

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reduce the amount of toxic waste, including PCBs, produced by the


bleaching process used to produce
white paper. However, xylanase
breaks down and does not function
at temperatures greater than 55C,
and the temperature during the maufacturing process for pulp is usually
higher than xylanase can withstand
(55C70C).
Dr. Wing Lam Sung, working at
the National Research Council, took
up the challenge of redesigning the
xylanase enzymea challenge many
other scientists had predicted to be
impossible. However, Dr. Sung proved
them wrong by successfully changing
the order of the amino acids making
up the protein of the xylanase en-

presence of the enzyme makes the obstacle, or hill, smaller, and as a result,
the reaction can occur faster; more energy is available to be used in more reactions, rather than being wasted on
overcoming the obstacle.
Thousands of different chemical
reactions must occur in cells to make life
possible. Each reaction requires its own
specialized enzyme in order to proceed
efficiently. For example, cellular respiration and photosynthesis are both complex metabolic processes that involve
many reactions and therefore many enzymes. The digestion of food also requires the production of enzymes,
known as digestive enzymes, by specialized cells located in the stomach,
small intestine, and pancreas.

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zyme. The outcome was the production of a modified xylanase


enzyme that could withstand the high
temperatures necessary in the pulp
mills. The presence of this enzyme reduces the toxic output of the mills by
10 % and reduces the operating costs
of each mill by $500 000 per year.
An Ottawa-based biotechnology
firm, Iogen, collaborated with Dr.
Sung to test and market the product,
which became known as BioBrite.
Tests showed that although other
xylanase enzymes were available
from competing companies, none of
their products worked as well as
the xylanase designed by Dr. Sung.
Iogen is now the worlds leading
supplier of this enzyme.

a) Without enzyme

sucrose

glucose
+
fructose
activation energy
without enzyme

net energy released


from splitting of
sucrose

b) With enzyme
sucrase

sucrose

glucose

fructose

activation energy
with enzyme

FIGURE 4.5 Enzymes lower activation energy.


a) Without an enzyme, the amount of energy
needed to activate the split of sucrose into
glucose and fructose is high. b) In the presence
of the enzyme sucrase, the activation energy is
low, so the reaction proceeds more easily. The
energy release per molecule is the same under
both conditions.

net energy released

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Section 4.2 Review


Understanding Concepts
1.

Define an enzyme. Explain the aspects


of enzyme function shared by all living
cells.

2.

Draw a diagram to show the progress


of an enzyme-catalyzed reaction.

3.

If more substrate is added to a reaction vessel, what happens to the number of enzyme molecules?

4.

Explain why lock and key is or is not


a good analogy to use with enzymes.

5.

When Dr. Wing Lam Sung synthesized


the heat-resistant xylanase enzyme, he
changed the order of some of the
amino acids in the protein. Some characteristics of the protein must not have
changed. Explain why.

6.

Life on Earth depends on enzymes.


Write a supported paragraph to defend
or deny the statement.

7.

The text compares the amount of activation energy to be overcome in a reaction with an obstacle or hill. Propose
a second analogy that helps to clarify
the meaning of activation energy.

The Link Between


Biotechnology and
Protein Synthesis
The nucleotides that make up DNA
are the same in all organisms. It is
only the order and arrangement of
the bases that is different from
species to species. This means that
DNA from one organism can be added
to a different organism. The resulting DNA is called recombinant DNA,

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Applying Inquiry/
Communication Skills
8.

Construct a flowchart to explain the


role of competitive inhibitors.

Making Connections
9.

Scientific knowledge of cellular processes is sometimes used in anti-social


ways. The nerve gas Sarin was used in
a recent terrorist attack on a Japanese
subway station. Research and report
on the international regulations in
place that address the production and
use of nerve gas.

10. The symptoms of influenza and other


viral diseases are often caused by the
enzymes produced by the virus. Based
on your knowledge of enzyme function,
suggest some possible ways to treat the
flu. Propose how these methods might
be incorporated into the health care
system.

11. What relationships do scientists and

because it contains DNA from more


than one organism. Since the reactions that implement the genetic code
of DNAprotein synthesisare
essentially the same in all living
things, scientists have used this
knowledge to create the field of
biotechnology.
For example, certain human proteins such as insulin are necessary for
treating human diseases such as diabetes. However, scientists are unable
to make insulin and many other organic molecules from scratch; they
must rely on other organisms. This is
where the universality of the genetic
code and protein synthesis come in:
quite simply, the human DNA segment

business share as new technologies are


developed?

that codes for synthesis of the insulin protein is inserted into the DNA
of an organism that reproduces
quickly and can be grown cheaply,
such as yeast or bacteria. Since DNA
is DNA, no matter what organism it
comes from, the yeast or bacteria now
have the instructions to make the new
protein, in this case insulin, and they
begin to manufacture it. The insulin
is then extracted from the organism,
purified, and packaged for delivery to
pharmacies and clinics.
Many other proteins have also
been prepared in a similar manner
to fight diseases such as cystic fibrosis, and different forms of cancer.

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4.3 Protein Synthesis


Key Understandings

When you have completed this section, you will be able to:
 illustrate the process of protein synthesis
 explain how cell organelles work together
 describe how organelles carry out transportation

Protein Synthesis
Proteins are essential to the life of the cell.
They have many functions. The cytoskeleton provides support. Enzymes catalyze reactions. Intrinsic proteins in the
cell membrane act as chemical receptors
and transport substances. Hormones provide chemical communication between
cells. A continuing supply of new protein is therefore needed for the health of
the cell. All the organelles of the cell work
together to produce protein through the
process of protein synthesis.
The manufacture and export of a
protein is a complex process (Figure 4.6).
However, protein synthesis can be considered as two main steps. In the first
step, known as transcription, the protein-making instructions on DNA are
copied into a molecule of RNA called
messenger RNA (mRNA). This form of
RNA is transcribed from one of the
strands of the DNA molecule. The mRNA
is then carried to the ribosomes attached
to the rough endoplasmic reticulum
(RER). Here, the second step, known as
translation, occurs. During translation
another form of RNA, known as transfer RNA (tRNA), brings the required
amino acids one at a time to build the primary structure of the protein according
to the instructions on the mRNA
molecule. Each amino acid links to the
next by a peptide bond. For this reason,
the protein at this stage may be called a
polypeptide.
Once the polypeptide has been assembled at the ribosome it enters the
RER. In the RER the molecule assumes
the final shape of the protein. This may
involve several protein subunits coming
together in a quaternary level of structure.

nucleus

Instructions from
DNA are copied onto
mRNA.

mRNA moves to
ribosomes, where
instructions are read.

Amino acid chain


growing from ribosomes
is dropped inside
endoplasmic reticulum
membrane. Chain folds
into protein.

Protein moves to
Golgi complex for
additional processing
and for sorting.

Protein moves to
plasma membrane
for export.

ribosomes
rough
endoplasmic
reticulum

Golgi
complex

plasma
membrane

FIGURE 4.6 The path of production of a protein

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WEBLINK
Nuclear medicine has an
important role in diagnosing
disease. Write a report on how
nuclear medicine is used in the
treatment of cancer. Begin
your research at
www.pearsoned.ca/biology11.

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The RER sends the protein out by way


of a vesicle to the Golgi complex, where
the protein may undergo further
changes. If the protein is to be used outside the cell, it is placed in yet another
new vesicle and travels to the cell membrane. At the cell membrane the protein
will be exported from the cell by the process of exocytosis.

Nuclear medicine: using the knowledge of


cell functions and technology Nuclear
medicine is a number of techniques that
use the knowledge of cellular functions
such as protein synthesis to diagnose
diseases. For example, to diagnose
problems with the hormone-producing
thyroid gland, patients are asked to

X-ray Crystallography
of Proteins
Dr. Gil Priv loves his career as an Xray crystallographer at the University
of Toronto. Dr. Priv studies the structure and function of the protein
molecules found in cells, and his special interest is proteins found in cell
membranes.
As opposed to electron microscopes, which use a beam of electrons to form an image, the process
of X-ray crystallography uses X rays,
special sensors, and computer technology to allow scientists to view the
smallest level of detail in molecules.
Dr. Priv describes X-ray crystallography as the perfect intersection of
physics (the X rays), chemistry (the
structure of the molecule), and biology (the problem you are trying to
solve with regard to the molecules
function).
Recently, Dr. Priv and his colleagues discovered the structure of a

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drink a glass of water containing radioactive iodine (131I). The hormone produced by the thyroid gland is a protein
that consists of many iodine-containing
amino acids. Radioactive iodine will be
taken up and incorporated into this protein. In a normal thyroid gland the radioactivity is soon detectable and is
captured on film by a special nuclear
medicine camera. Images of the thyroid
gland are taken over a period of time.
The length of time it takes for the radioactivity to appear and the amount
of radiation detected in the thyroid gland
both provide important information to
physicians about the health of the thyroid gland and its ability to produce hormone molecules.

Image omitted due to


copyright restrictions.

Image omitted due to


copyright restrictions.
FIGURE 4.7 Computer-generated diagram
of the PLZF protein

protein known as PLZF that is among


other things involved with causing
leukemia. Dr Priv claims that learning the structure of this molecule is
the first step in understanding how
it works and ultimately learning how
to control it. Dr. Priv states that in
biological systems, out of fairly simple interactions you get very complex
behaviours that allow cells to make
decisions such as whether to divide
or not to divide. It makes for fascinating research, says Dr. Priv.
You get to discover things that have
existed since life began but that no

FIGURE 4.8 Dr. Gil Priv

else knows about. He claims that you


may be cut out for a career in science
if you are naturally curious and like
to solve puzzles; he also states that
the ability to be a scientist is an attitude more than an aptitude.

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Section 4.3 Review


Understanding Concepts
1.

Name and describe the two steps of


protein synthesis.

2.

Describe the roles of mRNA and tRNA


in building a protein.

3.

Explain how other organelles become


involved in protein formation after the
polypeptide is assembled at the
ribosome.

4.

List at least five types of proteins that


are important to cells.

5.

Acromegaly is a condition caused by


the overproduction of growth hormone
in adults. Investigate the symptoms of
this disease. Write a paragraph to summarize your findings.

Applying Inquiry/
Communication Skills
6.

Outline the steps necessary for a pancreatic cell to manufacture and export the protein-based hormone insulin
into the blood. Include a diagram in
your answer.

Making Connections
7.

Nuclear medicine contributes to the diagnosis of many abnormal metabolic


conditions. Research and report on
how radioactivity is used to diagnose
disease.

4.4 Photosynthesis and Food Production


Key Understandings

When you have completed this section, you will be able to:
 illustrate and explain the process of photosynthesis
 describe organisms that do not depend on photosynthesis as their source of energy

Photosynthesis produces the oxygen that


nearly all living things must have in
order to survive and it allows plants to
feed themselves as well as to become
food sources for other organisms. Most
of the molecules that now make up your
body originated in a plant as a result of
photosynthesis.
Plants, some bacteria, and some
protists like algae have the unique
ability to convert the energy of sunlight
into the energy of chemical bonds
within carbohydrates. This ability
defines photosynthesis. The photosynthetic reactions occur in specialized organelles called chloroplasts. Within the
chloroplasts, specialized pigmented compounds known as chlorophyll molecules

are able to capture the energy of light.


The captured light energy is used to convert carbon dioxide from the air and
water from the soil into glucose
(C6H12O6).
Photosynthesis is a complicated
endergonic process that can be
simplified into two main stages: the
light-dependent reactions and the lightindependent reactions. In the lightdependent reactions, water molecules
are broken down into oxygen and
hydrogen. The oxygen is released as a
product. In the light-independent
reactions, carbon dioxide from the air
is added to the hydrogen atoms acquired
from water in the first stage to form the
carbohydrate glucose.

Investigation
Refer to page 104,
Investigation 2

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The reaction below shows the net


equation or ingredient list a plant
must have in order to produce one
molecule of glucose.
In this equation, the reactants are
shown on the left side of the arrow and
the products are shown on the right side

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of the arrow. Although a number of


enzymes are involved in the process, they
are not included in the equation.
Both of the products of photosynthesis are extremely important to other
living things. The glucose produced
provides energy not only for the plants

6 CO2 + 6 H2O + light energy C6H12O6 + 6 O2


carbon
dioxide

water

glucose

light energy

oxygen

glucose + oxygen
6 CO2 + 6 H2O

C6 H12 O6 + 6 O2

FIGURE 4.9 The process of


photosynthesis. The interaction of light energy, pigmented chlorophyll in
chloroplasts, carbon dioxide,
and water results in the formation of sugars and oxygen.

Discovering Biology

Plants and Oxygen

Joseph Priestly, an 18th-century English clergyman and scientist, proved the existence of oxygen by the decomposition of mercury II oxide. Priestly also performed a famous experiment with plants.
1. Light a candle, place it on a plate, beside a small potted plant, such as mint,
and place a large beaker upside down over the candle. After a short time the
candle will go out.
2. Place the apparatus near a sunny window for two to three days.
3. Remove the beaker just enough to re-light the candle. The candle should light
and burn temporarily.
 What substance was consumed by the candle?
 What must have been added to the beaker to allow the candle to burn the sec-

ond time?
 Where did the oxygen come from?
 What would happen if the apparatus were put back in the window for a fur-

ther few days?


 What would happen if the plant and beaker were put in a dark cupboard for

a few days? Would the candle burn again?


 What was the contribution of the plant?

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Previous Section

themselves but also for organisms that


eat plants, and also for the organisms that
eat those organisms. The oxygen produced is needed by almost all living
thingsincluding the plants themselves
for the process of cellular respiration.

Alternative Forms of
Food Production:
The Chemoautotrophs
Photosynthetic organisms are called
autotrophs, meaning they can make
their own food. Most other organisms
are heterotrophs. Heterotrophs must
eat other organisms to obtain energy.
However, another highly specialized
method of energy acquisition does exist.
Because of that we must say that technically, not quite all life on Earth relies
on photosynthesis. Certain species of
bacteria, known as chemoautotrophs,
do not rely on either photosynthesis
or the products of photosynthesis to

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survive. Instead, they produce their own


food chemically. These unique organisms
release the energy stored in inorganic
molecules such as hydrogen sulphide,
carbon dioxide, or iron-containing compounds to provide energy for themselves
and to make the organic compounds
such as carbohydrates and amino acids
necessary to support life.
Many scientists believe that the
chemoautotrophic bacteria are related
to the first life forms on Earth. They
would have been well suited to the conditions that probably existed on this
young developing planet. Inorganic
compounds from Earths crust were
common, and little or no oxygen existed
to support autotrophs.
Today, the chemoautotrophs live in
environments where conditions similar
to those of a primitive Earth still exist,
in deep-sea hot vents, deep in the soil of
wetlands, or in the near-boiling water of
hot springs.

Section 4.4 Review


Understanding Concepts

Making Connections

1.

Explain the importance of photosynthesis to all living things.

7.

2.

In what cellular organelle does photosynthesis occur?

3.

Where do the substrates (reactants)


of photosynthesis come from?

4.

Write the net equation for photosynthesis.

5.

Compare the lifestyle of chemoautotrophs and single-celled photosynthetic organisms.

Applying Inquiry/
Communication Skills
6.

In the process of photosynthesis, can


you tell if the oxygen atoms for the
product oxygen originate from the
reactant carbon dioxide or from the reactant water? Design an experiment to
determine which reactant supplies the
oxygen atoms.

The greenhouse effect is caused by the


buildup of carbon dioxide in the atmosphere from the burning of fossil
fuels. Investigate:
a) how the greenhouse effect may affect photosynthesis in plants.
b) the possible economic results of
effects on photosynthesis in plants.
c) the consequences of choosing not
to acknowledge the greenhouse
effect.

8.

Rain forests, such as those in the


Amazon river basin, actually create
much of their own rainfall. Cutting
down the rain forest decreases the
rainfall in the area. Crops are grown
on the cleared rain forest land. Prepare
a chart that lists the pros and cons of
such action.

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4.5 Cellular Respiration


Key Understandings

When you have completed this section, you will be able to:
 describe the results of cellular respiration
 explain the flow of energy between photosynthesis and respiration
 state the advantages and disadvantages to an organism or tissue of using aerobic respiration or anaerobic respiration

INFOBIT
36 or 38? Cellular respiration
can produce different amounts
of ATP; some cells are better at
making ATP than others. In the
human body, the cardiac
(heart) muscle cells produce 38
ATP molecules per glucose
molecule. All of the other cells
in our bodies are less efficient
and produce only 36 ATP per
glucose molecule. It is not surprising that heart muscle cells
are so efficient considering
how important your heartbeat
is to maintaining your life.

The metabolic process of cellular respiration supplies cells with energy in the
form of ATP. ATP is used to provide energy for important cellular processes such
as active transport, muscle contraction,
and all other endergonic reactions occurring in the cells of all living things.
Cellular respiration also provides the heat
to keep warm-blooded animals, such as
humans and other mammals, warmer
than their environment.
Glucose is the fuel for cellular respiration. During cellular respiration, the covalent bonds in glucose are slowly broken
down in a series of reactions that are
overall exergonic. The energy released is
used to make ATP. The process of
cellular respiration can be summarized
by the equation in the diagram below.

The first steps of cellular respiration,


known as glycolysis, occur in the cytoplasm in the cytosol. Glycolysis splits the
glucose into two molecules of pyruvic
acid. Two molecules of ATP are also
formed. Gloyolysis does not require oxygen and occurs in all cells. In eukaryotic
cells, if oxygen is present, the remaining steps of cellular respiration and the
remaining ATP production occur in the
mitochondria. Because prokaryotic cells
do not have organelles such as mitochondria, they can only perform glycolysis, and are, therefore, much less
efficient at producing ATP than eukaryotic cells.
Figure 4.10 shows the major stages
in cellular respiration and the locations
in the cell where these stages take place.

C6H12O6 + 6 O2 6 CO2 + 6 H2O + energy (in the form of 36 or 38 ATP)


glucose

oxygen

carbon
dioxide

water

Reactants

glucose

Products

2 ATP

GLYCOLYSIS

2 pyruvic acid
further processing

cytosol

mitochondrial
membrane

6 carbon dioxide
6 oxygen
34
FIGURE 4.10 The harvest of
energy from cellular
respiration

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mitochondrion

6 water

ATP

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The Energy Flow on Earth

Sources of Energy

Compare the equations for photosynthesis and cellular respiration. What


do you notice? Did you recognize that
the reactions are opposites? This is an
important feature of life on Earth. The
energy that fuels life on earth cycles
between photosynthesis and cellular respiration. Photosynthesis uses light
energy to produce glucose and other
organic molecules and cellular respiration releases the energy stored in the
bonds of glucose to make ATP to fuel
cellular functions.
The products of each of these
metabolic processes become the substrates for the other metabolic process.
Life on Earth depends on photosynthesis to continuously supply the glucose and
oxygen needed by cellular respiration.
Cellular respiration supplies the carbon
dioxide and ATP energy that allow plants
to continue to photosynthesize.

Although glucose is the cells most efficient source of fuel to make ATP, cells
may also use other molecules for energy.
For example, polysaccharides are polymers of glucose; therefore they can be
easily broken down to glucose and used
for energy. Such polysaccharides are
often called complex carbohydrates.
Other molecules, such as lipids and
proteins, may also be used for energy.
These substances can enter the cellular
respiration pathway but at different
stages from where carbohydrates enter
the pathway. Generally, cells will use carbohydrates for energy first, fats second,
and then finally break down proteins in
order to continue the cellular respiration
process. Without a steady supply of ATP
molecules, cells die within seconds.
Figure 4.11 shows the entry of different
types of molecules into the cellular respiration pathway.
food

proteins

carbohydrates

amino acids

sugars

fats

glycerol

fatty acids

glycolysis
glucose
pyruvic acid

NH3 (ammonia)

FIGURE 4.11 Molecules other than glucose can enter the cellular respiration pathway. These
reactants enter the respiratory pathway at different stages.

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WORD ORIGIN
Aerobic from the Greek, aer,
meaning air, bios, meaning
life and suffix ikos meaning
of the nature of. The an in
anaerobic is from the Greek for
not.

INFOBIT
If you like murder mysteries,
you may have heard of the
poisons arsenic and cyanide.
Both are deadly, and although
arsenic works slowly and
cyanide works very quickly,
they both affect cellular
respiration in the mitochondria:
they prevent certain reactions
of cellular respiration from
occurring and, therefore, prevent ATP formation.

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Forms of Respiration
The summary equation for cellular respiration, shows that oxygen is required.
See Figure 4.10, page 98. Cellular respiration using oxygen is known as aerobic
cellular respiration. However, most cells
are able to continue to produce some ATP
without oxygen. Producing ATP in the
absence of oxygen is often called anaerobic respiration or fermentation.
Prokaryotic cells such as bacteria use a
number of different strategies to accomplish anaerobic respiration. Eukaryotic
cells usually rely on one of two pathways:
lactic acid fermentation or alcoholic
fermentation.

Refer to page 103


Investigation 1

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acid. Lactic acid fermentation is inefficient when compared to aerobic cellular respiration, but it remains in humans
as a way to get a little extra energy in
an emergency situation.
Lactic acid fermentation is also used
in the dairy industry to make cheese and
yogurt. The process involves providing
a suitable carbohydrate source to the
proper species of bacteria under anaerobic conditions. The products are harvested once the fermentation has been
completed. Fermentation by bacteria, a
Lactobacillus, results in the production
of yogurt and sour cream.

Alcoholic Fermentation
Lactic Acid Fermentation
When faced with anaerobic conditions,
many eukaryotic cells can convert the
pyruvic acid obtained from glycolysis
into another product, called lactic acid.
This conversion, known as lactic acid
fermentation, occurs in the cytoplasm.
Although lactic acid fermentation does
not add to the ATP already produced by
glyolysis, it is necessary in order to
regenerate a coenzyme that allows
glycolysis to continue.
pyruvic acid lactic acid

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Did you ever wonder why your muscles hurt after exercise? Fermentation is
the reason. When you exercise vigorously, your circulatory system cannot
provide enough oxygen to your muscle
cells. As a result, your muscles rely on
the anaerobic process of lactic acid
fermentation to provide at least a little
bit more energy. However, the product
lactic acidis toxic to the cells and
causes pain as it continues to accumulate in the muscles. Because of its poisonous effect, the lactic acid must be
changed back to pyruvic acid in the
presence of oxygen. This explains why
you need to breathe deeply after intense
exerciseyou are supplying the oxygen needed to break down the lactic

Yeast, a type of fungus, and a few other


kinds of micro-organisms utilize another
method of fermentation called alcoholic
fermentation. In this process, pyruvic
acid is broken down into ethanol and
carbon dioxide. Similar to lactic acid
fermentation, alcoholic fermentation
does not contribute any more ATP
molecules to those already produced
by glycolysis; it is necessary to regenerate a coenzyme allowing glycolysis
to continue. The equation for alcholic
fermentation is:
pyruvic acid alcohol + CO2
Humans have utilized this process
for thousands of years. This was one of
the earliest examples of biotechnology.
The rising of yeast-bread dough is the
result of carbon-dioxide production by
the yeast cells. Brewing wine and other
alcoholic beverages relies on the ability
of yeast to ferment sugar to alcohol and
carbon dioxide. In order to make wine,
grape juice and yeast cells are mixed and
left in anaerobic conditions. The yeast
ferments the sugar into alcohol, but dies
once the alcohol concentration reaches
about 12%. Therefore, in order
to produce alcohol of a higher concentration, further processing, called
distillation, is required.

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To Ferment or Not to Ferment Clearly, it


is a major advantage for organisms to
be able to aerobically metabolize glucose. The organism obtains 36 or 38 ATP
per glucose, compared to only 2 ATP per
glucose obtained by fermentation.
In fact, a full 90 % of the energy in
glucose is unavailable to those
organisms that rely on anaerobic
metabolism. Why is fermentation
important? The answer is probably
linked to the conditions that existed on
a very young planet Earth. Scientists believe that fermentation developed before
aerobic respiration because oxygen was
not present in the atmosphere when the
earliest forms of life appeared on Earth

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some 3.5 billion years ago. As a result,


the first creatures to appear on Earth relied on fermentation to supply their energy needs. They were probably similar
to anaerobic bacteria that exist today.
Later the composition of the atmosphere
changed as photosynthetic bacteria
evolved to produce oxygen as a product of photosynthesis. As the oxygen concentration on Earth increased, the
organisms that relied on fermentation
were replaced by other organisms that
could carry out aerobic respiration. Now
they are found only in environments
where there is no oxygen, such as deep
in the soil or in the bodies of other organisms.

Section 4.5 Review


Understanding Concepts

Making Connections

1.

Why do cells perform cellular respiration?

8.

2.

Write the overall equation for cellular


respiration. From what reactant is the
oxygen in the product, water, obtained?

3.

Explain the flow of energy between cellular respiration and photosynthesis.

4.

Describe the difference between aerobic and anaerobic cellular respiration.


Write a paragraph to discuss the
advantages and disadvantages of each
process to a tissue or an organism.

Uncoupling proteins (UCPs) are proteins that are found in hibernating


bears and interfere with a mitochondrions ability to make ATP. Instead of
making ATP the energy is lost as heat
used to keep the bears warm. UCPs are
currently being studied as a possible
weight-loss solution in humans.
Research UCPs and prepare a PMI
chart on the prospects of their use as
a weight-loss solution.

9.

Mark McGuire was using a performance supplement known as creatine


phosphate the year he broke baseballs
all-time home-run record. Find out
more about the number of athletes
using creatine phosphate and its advantages and dangers. Conduct a
risk/benefit analysis and report your
findings to your class in the form of a
presentation or a poster.

5.

Make a T-chart to show the differences


between the two types of fermentation.

6.

What would be the effect on your


metabolism if your mitochondria
stopped functioning? Refer to Figure
4.10 in your answer.

7.

Make a diagram to show how lipids


can be used as alternative sources of
energy for cellular respiration.

10. Creatine phosphate is naturally found


in your cells and enhances their ability to make ATP in anaerobic condition.
Although creatine phosphate is not a
banned substance, in your opinion, is
it ethical for athletes to use this substance to enhance performance?
Explain.

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Decision-Making Skills

Case

Study

Ethanol or Fossil Fuels?

Defining the Issue

Developing Assessment Criteria

Researching the Issue

Analyzing Data and Information

Proposing a Course of Action

Justifying the Course of Action

Communicating Your Proposal

B A C K G R O U N D I N F O R M AT I O N

Ethanol, a clean-burning fuel, is a renewable resource made from the fermentation of sugar or
starch. Cheap agricultural waste, like corn stalks
and straw are used in this process as a sugar source.
Until now, ethanol has been more expensive to produce than gasoline or diesel fuels. However, with increased understanding of the effects of fuel emissions
on the environment, ethanol is becoming a more
cost-competitive alternative. Over 500 service stations in Canada sell ethanol blends. Benefits to the
environment of a 10 % ethanol blend include reduction in carbon dioxide emissions by up to 30 %
and reduction of carbon monoxide emissions up to
10 %. Ethanol is also high octane. In fossil fuels,
octane enhancers like methyl manganese trycarbonyl (MMT) are used. Manganese is a neuro-toxin
and has recently been banned.
In 1997, Canada and over 160 other countries
met in Kyoto, Japan and established the Kyoto
Protocol. These countries agreed to target
reduced green-house gas (GHG) emissions to fight
climate change. Canadas target is to reduce GHG

Image omitted due to copyright restrictions.

FIGURE 4.12 Vehicles burning fossil fuels produce pollution.

emissions by 6 % below 1990 levels between 2008


and 2012. An evaluation of the cost and benefits of
continued use of ethanol and fossil-fuels will be an
important step in Canadas assessment of how it can
best meet this target goal.

Analyzing the Issue


1.

Research the use of alternative fuels, focusing on the


potential of ethanol as the fuel of the future. Your
research focus should include information on the
process of creating ethanol, current testing and results,
as well as the cost of production.

2.

In a group, identify the advantages and disadvantages


of replacing fossil fuels with ethanol. Organize these
under the headings science, technology, society and
environment.

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3.

In groups, have a round-table discussion about sustainability and the long term impact on the planet of use
of current and alternative fuel-types. Every member of
the group should have an opportunity to express his or
her opinion. When you have heard the opinion of every
person in the group, come to a consensus about whether
or not Canada should have a plan for implementation of
alternative fuels for the future.

4.

Prepare a brief report, based on the round-table


discussion, that supports your opinion.

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Inquiry Skills

Investigation 1

(Section 4.5)

Factors Affecting Fermentation


In this lab exercise, you will study the effect of temperature on the process of alcoholic fermentation by
yeast. You will conduct experiments at three different
temperatures and compare the rates of production of
a product of fermentation. To test for a product of
fermentation you will use bromothymol blue, an indicator solution that turns yellow-green in the presence
of carbon dioxide.

yeast suspension
3 test tubes
test tube rack
6 beakers
bromothymol blue
stopwatch or clock with second hand
rubber stoppers with rubber tubing attached
graduated cylinder
thermometer or temperature probe
CAUTION: Bromothymol blue stains skin and clothing.
Wash your hands after handling living cultures.

Set up your data table in your lab notebook:

TABLE 4.1

Beaker Temperature
(C)

Time Taken for Colour Change


(minutes:seconds)

cold
room temperature
warm
2.

Using Tools, Material, Equipment

Conducting and Recording

Analyzing and Interpreting

Concluding and Communicating

4.

Label the three remaining beakers: Cold, Room


Temperature, and Warm. Add ice and water to the
beaker labelled Cold, add tap water to the beaker
marked Room Temperature, and add hot water to
the beaker marked Warm. Use a thermometer or a
temperature probe to measure the actual temperature of the water in the beakers. Record the measurements in Table 4.1 in your notebook.

5.

Place one of the yeast-containing test tubes into


each of the beakers from step 4. Place the free end
of the rubber hose from each test tube into a separate beaker of bromothymol blue.

6.

Record the time taken for each beaker of bromothymol blue to change colour in Table 4.1 in your
notebook.

Analyzing and Interpreting


1. What product of fermentation were you testing
for in this investigation?
2. Which beaker of bromothymol blue changed colour
fastest?
3. What must be included in the yeast suspension in
order for the yeast to carry out fermentation?

Concluding and Communicating

Procedure
1.

Applying Technical Skills

Obtain six beakers. Add an equal volume of bromothymol blue solution to each of three of the
beakers. Each beaker should be approximately half
full.

Materials










Initiating and Planning

3.

Problem
What is the effect of temperature on alcoholic fermentation by yeast?

Add yeast suspension to three test tubes to within


3 cm of the top of each tube. Place a stopper with
a rubber tube attached to it on each test tube. Set
the tubes in a test-tube rack.

4. If a fourth beaker with a temperature of 0C were


to be included in this lab, predict whether the
rate of fermentation would be faster or slower than
the results that you obtained. Explain.
5. If another beaker containing yeast were heated to
100C, predict whether the rate of fermentation
would be faster or slower than the results that you
obtained. Explain.
6. Yeast are also used to produce alcoholic beverages
such as wine. Usually the fermentation process to
make wine takes at least 30 days. What would you
suggest to speed up the process?
7. If you have access to a colourimeter, you could measure the decrease of colour in the beaker over time.
Suggest a method by which you could calculate the
rate of product production.

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Cells at Work


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(continued)

Extending

11. Enzymes, such as those involved in fermentation,


are sensitive to a number of different factors including temperature and pH. In this lab you have
investigated the effect of temperature. Design and
test a procedure to determine the effect of pH on
fermentation.

8. Design an experiment to test the effectiveness of


different carbohydrate sources on fermentation.
9. Why do muscle cells sometimes participate in
fermentation?
10. Explain what could be added to this experiment
to act as an experimental control?

Inquiry Skills

Investigation 2

(section 4.4)

Factors Affecting the Rate of Photosynthesis


Introduction
To a test tube containing bromothymol blue solution
that has been previously exposed to carbon-dioxide
gas, your teacher will add a piece of Elodea canadiensis and then seal the test tube with a stopper. Wait
at least one day and examine the test tube for any
changes. Elodea canadiensis is available in Canada. It
is a slightly narrower form of the Elodea sp. often used
in plant physiology experiments.

Problem
How could the Elodea test system be used to investigate
a factor or variable that affects photosynthesis?
CAUTION: Wash your hands after handling living organisms.

Initiating and Planning

Applying Technical Skills

Using Tools, Material, Equipment

Conducting and Recording

Analyzing and Interpreting

Concluding and Communicating

5. Have your teacher check your procedure before you


proceed with your investigation.
6. Present the results of your investigation in a clear
and well-organized manner, using a data table and
graph.

Analyzing and Communicating


1. Explain, using your knowledge of photosynthesis,
how the factors you investigated influenced the rate
of carbon dioxide uptake.

Concluding and Communicating


2. What criteria did you apply to develop your
procedure?
3. Describe which observations you felt provided evidence about how quickly photosynthesis occurred.

Experimental Design

4. Account for any experimental errors that may have


affected your conclusion.

1. Describe what you observe in the demonstration test


system.

5. Describe the changes, if any, you would make to


your procedure if you repeated your experiment.

2. Write a list of the variables that you think might influence the rate of photosynthesis.
3. Write a hypothesis about the way each variable
would affect the reaction rate.
4. Design a procedure to test your hypothesis about
each variable. include your materials and safety
considerations.

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CU H
4 Cell Functions
at Work
N AI TP T1E R Cellular

Extending
6. What application of this investigation could be used
by farmers and agriculturalists?

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C H A P T E R S U M M A RY
Key Terms
active site
activation energy
adenosine triphosphate (ATP)
aerobic respiration
alcoholic fermentation
anaerobic respiration
catalyst

cellular respiration
coenzymes
endergonic reaction
enzyme
enzyme-substrate complex
exergonic reaction
fermentation

glycolysis
lactic acid fermentation
metabolism
mRNA
net equation
photosynthesis
protein synthesis

pyruvic acid
tRNA
transcription
translation

Essential Understandings
4.1 Cell Reactions and Energy


Metabolism is the sum of all chemical reactions in


the cell.

Reactions may be either endergonic or exergonic.

Energy for cell activities comes from ATP.

The high energy bonds in ATP are used for storing


and releasing energy.

4.2 Enzymes

4.4 Photosynthesis and Food production




Photosynthesis is the process that plants and some


other organisms use to capture the energy of sunlight and convert it to chemical energy.

The net photosynthesis equation is:


6 CO2 + 6 H2O + light energy C6H12O6 + 6 O2

Some organisms can use sources of energy other


than sunlight to produce organic compounds.

4.5 Cellular Respiration

Enzymes are proteins that function as chemical catalysts to speed up chemical reactions.

Cellular respiration is the release of energy from


food molecules in the presence of oxygen.

Enzymes increase reaction speed by binding to substrates at their active site.

The net cellular respiration equation is:


C6H12O6 + 6 O2 6 CO2 + 6 H2O + energy (ATP)

Glycolysis is the first step of cellular respiration; glucose is broken down into two molecules of pyruvic
acid with the formation of two molecules of ATP.

The remaining steps of cellular respiration occur in


the mitochondria and produce most of the ATP.

Some organisms can break down pyruvic acid under


anaerobic conditions.

4.3 Protein Synthesis




Protein synthesis consists of two main steps: transcription (occurring in the nucleus) and translation (occurring in the cytoplasm).

The ribosome is the site of protein synthesis.

Messenger RNA and transfer RNA are essential for


protein synthesis.

Consolidate Your Understanding


1.

Revisit the Checkpoint on page 87 and review your cycle


diagram of photosynthesis. Revise your diagram based
on what you learned in this chapter.

2.

Construct a concept map to show the relationship between cellular respiration and photosynthesis.

3.

Issues relating to the cell and biotechnology appear in


the media on an ongoing basis. In a chart, list some

issues using the following categories: social, ethical, economic, environmental, technological.
4.

Reflect on your learning. When you researched the Case


Studies in this unit, you compiled data from a number
of sources. Describe the research process that you use.
In what ways could your process be more effective?

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Cells at Work

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CHAPTER 4 REVIEW
Understanding Concepts
1. Which of these is the cells main energy-carrying
compound
a) enzymes
b) proteins
c) vitamins
d) ATP
2. Pyruvic acid is a final product of
a) cellular respiration
b) photosynthesis
c) fermentation
d) glycolysis
3. During strenuous exercise, the bodys muscles produce
a) alcohol
b) lactic acid
c) glucose
d) starch
4. Photosynthesis occurs in
a) chloroplasts
b) mitochondria
c) prokaryotes only
d) muscle cells
5. An
a)
b)
c)
d)

end product formed during fermentation in yeast is


hydrogen
water
alcohol
glycogen

6. The
a)
b)
c)
d)

substrates of photosynthesis are


oxygen and glucose
carbon dioxide and oxygen
carbon dioxide and water
glucose and water

7. Anaerobic respiration
a) only occurs in bacteria
b) ends with glycolysis
c) requires oxygen
d) yields no ATP
8. C6H12O6 + 6 O2
a)

C6H12O6 + H2O + energy

b)

6 O2 + 6 H2O + energy

c)

6 CO2 + 6 H2O + energy

d)

6CO2 + 6 H2 + energy

9. Which is more efficientaerobic respiration or fermentation? Explain your answer.

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10. What is the role of enzymes in providing energy for living systems?
11. Compare aerobic respiration and fermentation with
respect to energy input and energy output. Which
process is more efficient and why?
12. Explain how energy flows between cellular respiration
and photosynthesis.
13. How are proteins important to the overall survival of a
cell? Of an organism?
14. Identify a biologically important endergonic reaction,
and explain why it is so important to supporting life.
15. Describe how a competitive inhibitor affects an enzyme.
16. Define activation energy for a reaction. Use diagrams to
show how the presence of a competitive inhibitor will
affect activation energy in an enzyme-catalysed
reaction.
17. Compare and contrast autotrophs, heterotrophs, and
chemoautotrophs. Write a supported paragraph on the
contribution of each form to the environment.
18. Why do you suppose chemoautotrophs still exist on Earth
today?
19. What accounts for any differences in ATP production
among different kinds of cells?
20. What advantage is there to having anaerobic respiration
available for certain human cells?
21. Do you think yeast cells would grow more quickly
when respiring aerobically or anaerobically? Explain
your answer.
22. Heart attack victims often have trace amounts of lactic
acid in the blood vessels leaving their heart. If you were
a medical researcher, what would this lead you to believe about the cause of heart attacks?
23. Set up a Venn diagram to relate the terms: anabolism,
catabolism, endergonic reaction, exergonic reaction,
metabolism, photosynthesis, and respiration.
24. Explain why the minimum number of carbon dioxide
molecules needed to make a glucose molecule in photosynthesis is six.
25. Some desert dwellers, such as kangaroo rats, never have
to drink water. Use your knowledge of cellular
metabolism to identify how kangaroo rats obtain the
water they need from their diet of dry seeds.

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Applying Inquiry/
Communication Skills
26. Use a chart similar to the one below to compare aerobic cellular respiration and anaerobic respiration.
Characteristic

Aerobic
Cellular
Respiration

Anaerobic
Respiration

Starting Material (substrates)

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30. The greenhouse effect refers to the buildup of carbon


dioxide in the earths atmosphere. How do you think the
greenhouse effect will affect the process of photosynthesis? Explain.
31. Glucose is the chief starting material for cellular respiration but it is not the only starting material. Other
carbohydrates as well as fats and proteins can be used.
Choose one of these alternative sources of energy and
research the way in which it enters the cellular respiration pathway. Present your answer as a diagram.

Pathways Involved
End Products
Energy Produced

27. Use a chart similar to the one below to compare photosynthesis and cellular respiration.
Characteristic

Photosynthesis

Cellular
Respiration

Starting Reactants
(substrates)
Location of Process
within the Cell
Endergonic or
Exergonic
Sample Organism
that Carries Out
this Process

32. If you eat an extra donut every day and do not increase
your activity, what happens to the extra energy that you
consume? If you want to work off the extra energy how
long would you have to exercise by a) running,
b) walking, c) cycling, d) swimming? Use the table to help
determine your answers. Assume your excess intake
was 1200 kJ.
Activity

kJ Consumed per Hour by an Average Person

running

3260

walking

660

cycling

340

swimming

2240

Making Connections

28. What do you think would happen to a plant that was


placed in an airtight jar by a window? Explain.
29. The table below shows the amount of energy released
from compounds during three different energyreleasing reactions. How does the percentage of energy
converted compare in each case? What happens to any
energy that is lost?
Compound

Conditions

Energy
converted
into

% of energy
converted

Glucose

Burned in
a fire

Heat, light

100

Glucose

Used in
cellular
respiration

ATP

40

Gasoline

Burned in
car engine

Motion

25

33. The worlds oil supplies cannot last forever, and since oil
is a non-renewable resource within human lifespans,
scientists are searching for other sources of fuel for
automobiles and other motorized vehicles. One possible
solution is to use yeast to ferment plant waste such as
wheat straw into alcohol. What questions should be
considered in deciding whether this is a worthwhile
solution? How could some of these questions be
answered?
34. The process of biotechnology using recombinant DNA
techniques allows scientists to make a number of human
proteins to treat diseases. What other human protein
products would you like to have available to humans?
Explain your answer.

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EXPLORING CAREERS

Taking the World by Storm


Biology is about to take the world by
storm, making changes in our lives even
more rapidly than the arrival of the personal computer and the Internet. Why?
Biology has always had a profound impact on both individuals and society
because it asks fundamental questions
such as: What are we? How do our
bodies work? Where do we fit within a
world of other living things? Finding these
answers is more than scientific curiosityits essential to our survival. Yet, until
recently, biology has been a rather quiet
science, its important discoveries

overshadowed by amazing developments


in other fields, such as information
technology.
What has changed? Think about the
various fields of science as blocks used
to build the same structureour
overall understanding of how things
work. Each change in a block changes
the entire structure. In other words,
what is learned in any one field of science, including new technology, stimulates and changes ideas in all the others.
For example, increased computing
power gave biologists the tool they had
needed to make the next huge leap
forward, deciphering the genetic code
for living things, including ourselves,
in far less time than ever predicted.
Remote sensing devices in space
allowed biologists to view patterns
biochemistry
of change over the entire planet,
food science
while GPS satellite tracking
environmental chemistry
allowed them to follow animals
ecology
B I O L O G Y
C H E M I S T R Y
as diverse as sea turtles and
pathology
butterflies wherever they
travelled.
How does this affect your
medical physics
investigation
of possible
bioinformatics
careers
in
biology?
First, this
aquatic science
is
a
field
undergoing
both
rapid
optical physics
physiology
physical chemistry
growth and rapid change.
biomechanics
molecular physics
This means there are exciting
acoustical physics
nuclear chemistry
opportunities now as well as in the
microbiology
polymer chemistry

paleontology

P H Y S I C S

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FIGURE 1 In terms of what people do and


their careers, the sciences are far from isolated
into biology, chemistry, or physics. Instead,
these fields overlap, have common information
and techniques, and new, specialized subfields
of science form between them all the time.
Most careers are found in such crossover areas.

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foreseeable future, but it also means you


need to be flexible in your thinking and
planning. Second, the definition of
working in biology is growing fuzzy at
the edges, as this field draws into itself
more and more tools from other
sciences. This means there are a lot of
careers that combine biology with other
areas of science, as you can see in Figure 1.

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nature of scientific endeavour involves


constantly adding new concepts and
testing existing ones. Regardless of the
career you may choosefrom a medical
physicist in a hospital to patent lawyer
to a mycologist working in a redwood
forestyoull find keeping up with
change wont be a problem. In fact,
youre likely to be the one telling
others whats new in the world.

Be Prepared for Change


If advances in biology mean that new
careers are appearing almost daily, and
existing careers are changing, how does
anyone manage to keep up? When you
think about it, your career as a student
is changing with each new school term
and course. You manage. How? Its a
matter of being prepared and willing
to learn.
1.

Make a list of tasks and reminders


for a new student arriving at your
school. In that list, describe in
detail what the student will need to
do to be ready for the first day of
term. Once you have finished your
list, consider these questions.

Where did you acquire your
own knowledge of how to
prepare for school?

The student has moved from
another school. Most of the
courses hell be taking at your
school sound familiar, how
could the new student find out
what may be as expected and
what may be different?

The student is a little worried.
One of his courses will be in a
subject completely new to him.
If this were you, what could you
do to prepare for such a course?

Learning is the best way to keep ready


for change. Fortunately, lifelong learning
is more than an expression to someone
working in biology or other science
fieldits one of the rewards. The

FIGURE 2 A medical physicist viewing CAT scans

Looking Outward
2.

Research a list of biology-related


careers. Use all the resources you
can, including those from your
classroom, your guidance department, and the Internet. Compare
lists with other classmates until you
have as many different careers as
you can find.

Where do these careers fit
within the diagram of crossover
careers? Is there a pattern or
trend you can find?

What does this suggest about
how you can best prepare
yourself for a career in biology,
or any career likely to change
over time?
Exploring Careers

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ACHIEVEMENT TASK
View Rubric

Health Care Research:


Making Informed Decisions
Background Information
As medical technology advances, there are increased expectations that cures
to previously untreatable diseases may be found. Diseases like cancer,
Parkinsons disease, diabetes and many others, are often in the news, as scientists make new breakthroughs and develop new theories about causes and
cures of the diseases being investigated. The government decides how to allot
its funding dollars for further research. In Canada, the Canadian Institutes
of Health Research allotted $340 million for research grants and awards in
its 20002001 budget.
Ordinary citizens also face decisions about which kinds of research will
receive their financial support. Their reasons may be personal. Perhaps a
family member is living with a disease, or they know someone affected by a
particular illness. The media also play a role in influencing the expenditure
of research dollars. Celebrities often associate themselves with an illness and
their appeal to the public can also influence donation decisions. Actors like
Michael J. Fox and Christopher Reeve have made a tremendous impact on
funding for Parkinsons disease and spinal cord research. There are many
other illnesses that do not receive high profile publicity yet deserve funding.
In a society that has limited funds for medical research, which diseases should
be the priority? This question faces society every day.

SCENARIO
Choose one of the two suggested below.
1. You are members of a team hired by Health Canada to review potential public
health campaigns that publicize awareness of diseases that commonly affect
Canadians. Decisions to fund these campaigns will be based on your recommendations.
2. You are members of a group submitting a proposal requesting funding from
Health Canada. The funds will be used for a public health campaign on one of
the diseases that commonly affect Canadians. Decisions to allocate funding will
be based on your submission.

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Part A: Research the Disease


1.

Brainstorm a list of the top five diseases


that you believe the public should be educated about. Explain the prioritization of
the list.

2.

In groups, choose one of the diseases from


your list to research. The following information must be included:







3.

the cause of the disease


the cells of the body affected by the
disease
the symptoms
the prognosis
detection and prevention
the number of people in Canada and
the world with the disease.

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Part B: Analyzing the Data


4.

Prepare a public awareness campaign for


the disease that you researched. Your plan
should include consideration of your audience and your objective. Propose a campaign that includes consideration of (a)
likelihood of cure; (b) social impact of research. Include in your campaign, statistics
and diagrams as a support for your message.

5.

Develop class criteria to evaluate group presentations.

Part C: Reflection
6.

In what ways do you believe that public


awareness campaigns influence (1) likelihood of a cure; (2) prevention.

7.

Explain the social and economic impact of


directing funds to medical research.

8.

For diseases that are not regularly in the


public eye, what alternative methods are
there to create public awareness? Is it appropriate that the media highlight only highprofile diseases? Why? Why not?

Some examples of major diseases affecting


Canadians include:






Breast cancer
Parkinsons Disease
AIDS
Muscular dystrophy
Amyotrophic Lateral Sclerosis

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A c h i e v e m e n t Ta s k

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UNIT 1 REVIEW
Understanding Concepts
1. Which is an ionic compound?
a) water
b) sugar
c) carbon
d) sodium chloride
2. A disaccharide is an example of a
a) lipid
b) protein
c) carbohydrate
d) nucleic acid
3. The
a)
b)
c)
d)

monomer of a protein is a(an)


sugar
fatty acid
nucleotide
amino acid

c)
d)

allows some substances to enter and all substances


to exit
allows only some substances to exit and all substance to enter

10. The process that involves substances moving through


the cell membrane without requiring energy is called
a) endocytosis
b) exocytosis
c) active transport
d) facilitated transport
11. Which compound is the energy providing molecule for
the cell?
a) DNA
b) RNA
c) cholesterol
d) ATP

4. Nucleic acids are composed of monomers called


a) amino acids
b) saccharides
c) steroids
d) nucleotides

12. How many molecules of ATP are produced by aerobic


cellular respiration?
a) 29
b) 2
c) 4
d) 36 or 38

5. Who was the first person to view and name cells?


a) Hooke
b) Dutrochet
c) Van Leuwenhoek
d) Schwann

13. Which process is used by plants to make food?


a) fermentation
b) respiration
c) photosynthesis
d) glycolysis

6. The molecule that forms the bilayer of a cell


membrane is called a
a) protein
b) lipid membrane
c) phospholipid
d) cholesterol
7. Both mitochondria and chloroplasts contain
a) vacuoles
b) DNA
c) endoplasmic reticulum
d) cytoskeleton

14. 6CO2 + 6 H2O + light energy


a) C6H12O6 + 6O2
b) 6O2 + 6CO2
c) C6H12O6 + 6H2O
d) C6H12O6 + 6CO2
15. Fermentation occurs in the
a) presence of ATP
b) presence of oxygen
c) absence of ATP
d) absence of oxygen
16. Distinguish between an acid and a base.

8. The
a)
b)
c)
d)

site where ribosomes are assembled is called the


mitochondrion
DNA
chromosome
nucleolus

9. The cell membrane is known as selectively permeable


because it
a) allows all substances to enter and exit the cell
b) allows some substances to enter and some
substances to exit the cell

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Cellular Functions

17. Set up a T-chart to compare glycogen and cellulose.


18. Outline at least five effects that would occur if hydrogen bonds did not form between adjacent water
molecules.
19. Explain the difference between a molecular formula and
a structural formula. Give an example of each type of
formula. What additional information is available if a
structural formula is used?

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20. The hydrogen bond is particularly important in biochemistry. Illustrate this statement with regard to:
a) fish in the Canadian winter
b) the secondary structure of a protein
c) DNA structure
21. Define dehydration synthesis. Use diagrams to show the
importance of dehydration synthesis in:
a) formation of a complex carbohydrate
b) formation of a protein
22. Phospholipids contain glycerol bonded to one or two fatty
acids and to an organic base that is attracted to water.
Explain how this chemical structure is essential to the
structure and function of the cell membrane.
23. Demonstrate the formation of a peptide bond by drawing a diagram. Use the structural formulas for glycine
and alanine in your diagram.
24. The polypeptide chain formed at the ribosome may not
be ready to function in the cell. Discuss the role of the
Golgi apparatus in producing the final, active protein.
25. Set up a T-chart to compare the types of information obtained from transmission electron microscopy and scanning electron microscopy.
26. Explain why you should not place an unopened bottle of
pop in a freezer.
27. Which molecule is larger, ATP or ADP? Explain how you
know this and why there is a size difference.
28. Compare covalent, ionic, and polar covalent bonds.
29. List the components of the cell membrane. Indicate how
hydrophilic and hydrophobic properties are important
for entry of substances through the cell membrane.

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theory. List the essential characteristics of the cell


theory.
36. What would happen if you added 3 mL of cola to
10 mL of water? Predict the movement and distribution
of the molecules in the solution.
37. Associate faulty transport mechanisms in the cell with
diseases in humans.
38. Draw a diagram to show the relationship in the cell
between ATP and ADP.
39. After glycolysis occurs, what happens to pyruvic acid if
no oxygen is present?
40. What does the term essential represent with respect to
nutrients.
41. Set up a concept map to show the relationships between
aerobic and anaerobic respiration and ATP production,
alcoholic fermentation, and lactic acid fermentation.
42. Draw a flow chart to indicate the relationship between
photosynthesis and respiration.
43. List three uses humans have made of the process of
fermentation.
44. Justify the following statement: Chemoautotrophs are
the only living organism that do not depend on photosynthesis to surivive.
45. Explain how DNA controls the production of proteins
in cells.
46. Explain why photosynthesis and respiration are considered opposite processes.

30. Draw a diagram to show how the structure of water contributes to its properties as a solvent.

47. Outline the importance of the cell membrane to the survival of the cell. Explain why it is important for the cell
membrane to be selectively permeable.

31. Define specific heat. Indicate the importance of the


specific heat of water for biological systems.

48. Describe in detail what would happen to a freshwater


organism if it were placed in salt water.

32. List three similarities and three differences between eukaryotic and prokaryotic cells.
33. Name and describe the cellular structure that contains
digestive enzymes. Explain the importance of this structure to the cell.
34. Draw a flow chart of protein synthesis.
35. Draw a timeline of observation and discovery during the
19th century that led to the development of the cell

Applying Inquiry/
Communication Skills
49. Some antibiotics act by binding to enzymes of the
disease-causing bacteria.
a) Draw a diagram to show one way that the antibiotic might affect the activity of the enzyme.
b) What effect of this binding on the bacteria would
you expect?

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50. Consult Canadas Food Guide or another nutritional information source to determine the recommended consumption of saturated and unsaturated fat for a person
of your age. Then maintain a dietary journala record
of what you eat for five days. Consult reference sources
to determine your approximate intake of saturated vs.
unsaturated fats. What changes, if any, should you make
to your diet in light of your findings. What are the
likely benefits to your health of making a change to the
amount of fat you consume?
51. Use a T-chart to show the possible positive and negative
effects of constructing computer processors and other
circuits out of molecules as opposed to constructing them
out of elements as they are currently made?
52. Design an experiment to compare the speed with which
polar and nonpolar compounds dissolve in water. Nonpolar compounds include vegatable oil and sugar. Polar
compounds include acetone and hydrogen chloride.
Predict the results of your experiment.
53. Imagine that a Canadian scientist has discovered a
new and greatly improved microscope that can greatly
increase the magnification and resolution of microscopes.
What effects might this have on our understanding of
cells?
54. People who have nearly drowned in sea water have to
be kept under medical supervision for several hours after
they have been revived. Using your understanding of osmosis, explain why this is necessary.
55. Briefly describe a plan that would allow you to observe
the effects of water moving into a plant cell by osmosis.
56. The table below shows the different amounts of energy
released from glucose by two different processes.
Compare the amount of energy released for each process. Explain what has happened to energy that appears
to have been lost.
Fuel

Fuel use

Efficiency of
energy conversion

Glucose

burned in laboratory
experiment

100%

Glucose

metabolized during
cellular respiration

40%

57. Design an experiment to demonstrate the effects of


different amounts of light on plant growth. Write a
hypothesis and submit your experimental design to your
teacher before you begin your experiment.

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Cellular Functions

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58. Copy and complete the following chart on aerobic and


anaerobic respiration.
Aerobic
Respiration

Anaerobic
Respiration

Substrate
Products
Energy (# of
ATP produced)

59.Copy and complete the table below. Obtain a sheet of


grid paper and graph the data.
Size of Cube
(cm)

Surface area
(cm2)

Volume
(cm3)

Surface area
Cube/Volume ratio

1
2
3
4
5
60. The average human requires 2200 kcal per day to
meet their energy demands. If a person were to regularly consume 2500 kcal what effect would this have
on their body? Express these values in kilojoules.
61. All human cells metabolize glucose and human bones
actively metabolize calcium. Cancerous cells often metabolize at much faster rates than normal cells. Read the
section: Nuclear Medicine: using the knowledge of cell
functions and technology on page 94, and then describe
how you would design further nuclear medicine tests
to determine cancer in any body tissue as well as cancer in bones.
62. Use the table on the next page to answer the following:
a) What food in the table has the highest ratio of proteins to lipids? The lowest ratio of proteins to lipids?
b) If you were advised by your doctor to eat a low fat
diet, which of the foods listed should you eat less
of?
c) Calculate the number of grams of proteins, lipids,
and carbohydrates in the following breakfast: 1 cup
of orange juice, 1 boiled egg, 2 slices of fried bacon,
2 slices of whole wheat toast, and 10 g of margarine.

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Nutritional Composition of Selected Foods


Food
breakfast cereal (30-g serving)

Proteins (g)

Lipids (g)

Carbohydrates (g)

1.9

3.0

24

salad dressing (15-mL serving)

0.4

8.5

0.4

chocolate chip cookies (2)

1.9

7.8

17

light cream cheese (30-g serving)

2.2

5.2

1.2

whole wheat bread (1 slice)

2.6

1.0

13.0

fried bacon (1 slice)

2.3

4.0

0.25

8.0

0.1

boiled egg (1)

6.5

5.8

0.5

orange juice (125 mL)

1.8

0.5

26

margarine (10-g serving)

carrot (1)

0.5

0.1

4.9

macaroni (250 mL)

2.4

0.3

16.3

Making Connections
63. Stem cell research is based on the principle that some
cells are capable of dividing and giving rise to different
types of differentiated cells. The object of this research
is to have transplanted stem cells assume the role of essential functions missing or lost due to diseases like
Alzheimers. Other research studies factors that may prevent such diseases. Research dollars are limited.
Set up a PMI chart to investigate support for these two
types of research. Consider:
a) data available currently from the two types of research
b) short-term effects on society
c) long-term effects on society
64. Research possible chemical-based and biological-based
alternatives to fossil fuels. Set up a PMI chart for each
method you research. Include a consideration of:
a) the cost of the research
b) the likely time-frame before the alternative fuel is
commercially available
c) effects on the environment
d) effects on the Canadian economy
65. Imagine that you are the director of medical imaging for
Health Canada. Recent research results point strongly to
the possibility of harmful effects on humans through exposure to strong magnetic fields. Outline at least five recommendations you would make in this circumstance to
hospitals and clinics that are currently using MRI scanners. What other medical diagnostic tool may serve to
provide some guidelines for writing your proposal?

66. The function of molecules is often dependent on their threedimensional shape, which leads to yet another story about
performance enhancing drug use by Mark McGwire.
Besides using creatine phosphate, during his home-run
hitting record breaking season, he was also using androstenedionea legal steroid hormone that is identical
to testosterone except for the placement of a single hydrogen atom. While other anabolic steroids are banned
from use, androstenedione is not. What is your opinion of
McGwires use of this performance enhancing substance?
Do you think he should be entitled to keep his record? If
you were a personal trainer to a world class athlete, what
would your advice be regarding the use of androstenedione? Write a supported paragraph on this topic.
67. Compose a letter to the bottlers of Coca-Cola outlining
your opinion of their use of HFCS sweeteners in their
products.
68. You have recently been assigned to the federal government cabinet position of Minister of Health. Draft a statement outlining your official policy on performance
enhancing drugs, such as anabolic steroids.
69. Dr. Harry Jennings invented the first synthetic vaccine.
Other vaccines may cause the inoculated person to contract the disease they are supposed to be protected against.
This is a rare occurrence. Synthetic vaccines do not cause
diseases. Imagine you are a medical researcher. What
other diseases would you suggest for the development of
synthetic vaccines? List the reasons for your choices.

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UNIT

Genetic Continuity

ow does a single cell manage to divide and eventually become a complex multicellular organism, such as an elephant or a giraffe? How
does a species pass all of its special traitsa leopards spots, a zebras
stripes,from one generation to the next? These abilities, found only in
living things, are known as genetic continuity. They are one of lifes great
mysteries. Or at least they were until recently. Scientists are now busy
mapping the chromosomes, genes, and DNAthe hereditary information
inside the nucleus of all
b)
cellsof many organisms including humans.
This new found genetic
knowledge is already
revolutionizing many
aspects of our lives.
Genetic engineering
has been used to create
clones and to develop
designer organisms.

OVERALL
EXPECTATIONS
By the end of this unit,
you will be able to:


demonstrate an understanding of
the necessity of meiosis and
describe the importance of genes
in transmitting hereditary
characteristics, according to
Mendels model of inheritance

perform laboratory studies of


meiosis and analyze the results of
genetic crosses related to the laws
of heredity

outline the scientific findings


and some of the technological
advances that led to the modern
concept of the gene and genetic
technology, and demonstrate an
awareness of some of the social
and political issues raised by
genetic research and reproductive
technology

c)

a) Binary fission in E. coli


produces two cells genetically
identical to the parent cell.

d)

b) The members of three


generations in a family show
shared hereditary characteristics but each person is genetically unique.
Genetic continuity over the
centuries can be observed.
c) A fossil sabre-toothed tiger
d) A modern-day tiger.

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a)

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Genetic screening techniques have been used to detect birth defects in the
developing fetus. Research is being done with gene therapy to cure inherited
disorders such as certain cancers, hemophilia, heart disease, and cystic
fibrosis.
However, the ability to understand and manipulate DNA does have its
downside. How would you feel if you were denied a job because a DNA test
showed that you have a certain genetic defect? What if that blood sample
your doctor ordered fell into the wrong hands and was used to find out everything about you, without you even knowing it? What if a genetically
modified organism multiplied out of control in the wild and drastically altered
the natural ecosystem? These are just a few of the fears some people have
about unlocking the secrets contained in the genes.
Properly assessing the many pros and cons associated with genetic technology requires a good understanding of genetic continuity. In this unit, you
will examine mitosis, the process that ensures genetic continuity within an
individual from cell to cell. You will study meiosis, the process that ensures
genetic continuity from one individual to the next, from generation to generation, within a particular species. You will investigate the science of genetics, the study of how genes operate, and the complex interaction between
genes and their environment. You will look at the various techniques and
technologies that have evolved to study and manipulate DNA. Finally, you will
examine some of the moral and ethical issues that surround these new
technologies. By the time you finish the unit, you will be better equipped to
form your own opinion about the proper use of genetic information.

BIOLOGY HEADLINES


Alzheimers allele unmasked


Scientists at the University of Wales expect to announce the location of a gene thought to be linked
to late-onset Alzheimers disease. In 429 pairs of
siblings over the age of 65 with Alzheimers, all
shared a particular allele of a gene located on chromosome number 10.

Theres gold in them thar genes!


Knowledge of the human genome may hold the
promise of healthier lives in the future, but right
now its all about big egos, competing technologies
and wild stock prices. The race to commercialize
the human genetic code has produced a stock market frenzy.

Genetically altered athletes?


Swedish professor Bengt Saltin, an expert in exercise physiology, suggests that a form of gene therapy used in flies, where genes are removed,
modified, and reinserted, could be applied to athletes as early as the next summer Olympic games.
This could mean bizarre choices for athletes. A
sprinter could benefit from more fast-twitch muscles. A long-distance runner could choose the gene
form that produces more of the hormone erythropoetin to stimulate formation of red blood cells.
A high jumper could even have localized muscle
growth in the take-off leg.

PREVIEW

ACHIEVEMENT TASK
At the end of the unit, you will demonstrate your learning by providing recommendations to an ethics panel
about the potential applications of genetic technologies.
You will analyze the social, ethical, and economic impact of their use and propose a course of action for future application. See page 236.

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CHAPTER 5
SPECIFIC
EXPECTATIONS

Mitosis and Meiosis

By the end of this chapter,


you will be able to:


demonstrate an understanding of
the process and importance of
mitosis (5.1)

explain how the concepts of DNA,


genes, chromosomes, and meiosis
account for the transmission of
hereditary characteristics from
generation to generation (5.2, 5.3)

explain the process of meiosis in


terms of the replication and
movement of chromosomes (5.2
Investigation 1, Investigation 2)

explain the process of meiosis


with reference to your own
investigations with a microscope
(Investigation 1)

organize data that illustrate the


number of chromosomes in haploid
cells and diploid cells, and the
number of pairs of chromosomes in
diploid cells, that occur in various
organisms before, during, and as a
result of meiosis (5.2)

describe and analyze examples of


technologies that were developed
on the basis of scientific
understanding (5.1)

single bacterium elongates, constricts near the middle, and miraculously


divides in two. A half hour later, the two daughter cells also divide in two.
A half hour after that, the four resulting cells divide to become eight. With
cell division continuing at this rate, fifteen hours later there are one billion
bacteria. In this scenario, offspring were produced by what is known as

b)

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FIGURE 5.1 When an egg cell and a sperm


cell fuse they produce a zygote, the first cell of
a new organism. Mitosis is the process that
transforms the single cell into an adult like the
mature elephant. a) Fusion of egg and sperm
b) A mature elephant.

a)

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asexual reproduction. With asexual reproduction, only one parent is required


and each offspring is genetically identical to the parent and to all the other
offspring.
After mating in mid-winter and following a 49- to 56-day gestation period,
a female red fox gives birth to four pups deep inside her den. She and her
mate then take care of the pups until they are old enough to fend for themselves. In this scenario, offspring were produced by sexual reproduction. With
sexual reproduction, two parents are required and each offspring carries genetic traits from both parents. All offspring are genetically different from one
another.
Compared to sexual reproduction, asexual reproduction seems so much
more efficient: you dont have to bother trying to find a mate and you can
produce many, many more offspring. If this is the case, why does Mother
Nature bother with sexual reproduction at all? Would the fact that a species
that reproduces asexually contains members that are all genetically uniform
affect the ability of the species to survive? What if the climate suddenly got
colder? Would a genetically uniform species be able to adapt to new conditions as well as a genetically diverse species can? This chapter deals with the
scientific answers to these questions. You will gain a good understanding of
mitosis, the process of cell division used to reproduce asexually, and meiosis, the process used to reproduce sexually. By the end of the chapter, you
will be able to make an intelligent comparison of the pros and cons of each
of the methods of reproduction.

Discovering Biology
The Chromosome Numbers Game
Imagine an organism that has a characteristic chromosome number, the
diploid number, of six.
1.

On a sheet of paper, sketch one of the cells of this organism and draw six
lines inside the cell to represent the six chromosomes.

2.

Sketch two of these cells to represent the sex cells of this organism,
with each cell containing six chromosomes.

3.

Sketch the results of fertilization involving these two cells. How many
chromosomes does the fertilized egg now contain?

4.

Sketch what would happen if this pattern were repeated for three more
generations.

Predict the effect this sequence of events would have on the characteristics of this imaginary organism.

CHECKPOINT
Draw a comparison chart to
list what you know about
mitosis and meiosis.
Mitosis

CHAPTER 5

Meiosis

Mitosis and Meiosis

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5.1 Mitosis
Key Understandings

When you have completed this section, you will be able to:
 briefly outline the cell cycle and the stages of mitosis
 distinguish between mitosis and cytokinesis
 understand how one technique for cancer treatment depends on the scientific understanding of mitosis

M AT H L I N K
The first cell of a new organism, the zygote, divides by mitosis to produce a ball of cells
known as a blastula. In animals where the egg has little
yolk, the total number of cells
doubles every round of division. How many rounds of division are necessary to produce
a blastula with 1024 cells?
Hint: the mathematical formula
is 2n = x where n is the number
of divisions and x is the total
number of cells.

Research on cell division results in new


discoveries about cell function on an almost daily basis. Cell division is necessary for the growth and development
of any multicellular organism. It also
allows for tissue repair and the replacement of ageing cells.
Cell division does not occur at a fixed
rate. Biologists have shown that cell division occurs rapidly in developing embryos and young organisms. The rate of
cell division is also critical when you consider surfaces of the body that are exposed to daily wear and tear. The cells
on the surface of the skin or the lining
of the gut must replace themselves on
a regular basis as they are worn away
by constant exposure to the environment
or to food materials and enzymes.
On the other hand, muscle and nerve
cells lose the capacity for cell division at
an early age. This means there is no possibility of replacing a cell that breaks

DNA wraps around protein


to make chromatin

DNA

chromatin

down. A current theory suggests that this


loss of function may also account for
the ageing process.

Mitosis and Genetic Continuity


The main function of mitosis has been
clearly identified by biologists. Mitosis
occurs when a parent cell divides to
produce two daughter cells. The daughter cells are genetically identical to each
other. The hereditary information in the
nucleus, the DNA, must be duplicated
and an exact copy must be passed to
each daughter cell. With every round of
mitotic division, the total number of cells
is doubled, but the hereditary information stays exactly the same. The
transmission of the hereditary material
through cell division is called genetic
continuity. Because the hereditary information is stored on the chromosomes
within the nucleus, any consideration of

Chromatin folds up
to make chromosomes

duplicated chromosome

cell

FIGURE 5.2 The chromosomes. The hereditary material in the nucleus is made up of long
strands of DNA that are condensed, folded and, in association with proteins, formed into
chromosomes.

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mitosis must focus on the division and


distribution of these chromosomes
(Figure 5.2).
Chromosomes are made of DNA
(deoxyribonucleic acid) and associated
proteins. The long strands of DNA are
packaged in condensed, folded structures
to make the chromosomes found in the
nucleus of every eukaryotic cell.

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b)

Image
omitted due
to copyright
restrictions.

Image
omitted due
to copyright
restrictions.

The Need for Cell Division


In 1855 Rudolph Virchow stated that all
cells are derived from pre-existing cells.
This statement is accepted as part of the
Cell Theory but there are many questions still to be answered about the
production of new cells. Why is it necessary for a cell to divide? Why do cells
not simply continue to grow to four or
five times their initial size?
Scientists have identified two key
factors that restrict cell growth and initiate cell division. First, as a cell grows,
its surface area and volume do not
change at the same rate. The volume
of cytoplasm and cellular organelles increases at a faster rate than the surface area of the cell membrane. At some
point in cell growth, the transport of materials through the cell membrane is not
enough to satisfy the nutrient requirements of the larger cell volume. When
this happens, the cell becomes inefficient
at performing its tasks. One impetus to
cell division is to keep the surface area
to volume ratio of the cells sufficient for
effective exchange across the cell membrane. Unlike other cells, nerve cells are
large and elongated but they do not
divide. Their long extensions and
infoldings maintain an efficient surface
area to volume ratio.
The second factor that restricts cell
growth involves the nucleus. As a cell
grows larger, the nucleus has difficulty
controlling the activities of the increased
volume of cytoplasm and organelles. Once
again, the efficiency of the cell is
hindered. Cell division maintains the cell
contents at a manageable volume. An
exception to this rule is found in skeletal muscle tissue. The cells are long and

FIGURE 5.3 These large cells have avoided the need to


divide. a) nerve cell b) striated muscle

thin but they maintain nuclear


control by having many nuclei within a
common cytoplasm. Why some cells
need to divide while others do not and
what factors trigger cell division in
different cell types are questions that
continue to challenge researchers.

The Cell Cycle


Cells do not divide continuously. In cells
that are capable of dividing, the period
between cell divisions is termed
interphase. During interphase the cell
undergoes growth, duplicates the hereditary information, and prepares for
mitosis. The length of this period varies,
depending on the organism and cell type.
Once a cell does begin to divide, two
separate processes must occur. The
nucleus must first undergo mitosis, a
process that ensures the distribution of
a complete set of chromosomes to each
daughter cell. Then cytokinesis, the
division of cytoplasm and organelles,
follows. The result is a pair of daughter
cells, each with a genetic makeup identical to the original parent cell.
Most of the life of the cell is spent in
interphase, when hundreds of specific
functions are performed. Obtaining
energy, synthesizing products like
hormones, repairing damage, and fighting
disease, are just a few of these functions.
Interphase has often been misnamed as
CHAPTER 5

INFOBIT
During interphase the cells of
an organism are actively
producing proteins. These
proteins may be used to
produce structures within the
cell or they may act to regulate
processes in the organism.
For example, the cells of the
pancreas produce the protein
insulin that leaves the
pancreas via the bloodstream.
This chemical then influences
the metabolism of glucose in
cells throughout the body.

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Cell growth

G1 phase
Cyt

nes
is
Telop
hase

Cell
division

Anaphase
hase

Metap

nt

se

ha
rop

e p li
catio

is
M it o s

Chromosome
division and
distribution

erphase

oki

G2 phase
Pr

ep

ara

tion

for
m

DN

Ar

S phase

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the resting phase of the cell cycle.


Although the interphase cell is between
mitotic divisions, it is not at rest. It is actively growing and performing its functions. Before mitosis can occur, the
genetic information in the chromosomes
must be duplicated. This duplication
(called replication) occurs during the period of interphase termed the synthesis
phase or S phase. Prior to this S phase,
the cell has been growing and preparing for replication. This is termed the G1
(or first gap) phase. Following the S
phase, the cell enters the G2 (or second
gap) phase as the cell begins its final
preparation for cell division. The cell
cycle is illustrated in Figure 5.4.

The Phases of Mitosis


ito s i s

FIGURE 5.4 The cell cycle can be divided into mitosis, cytokinesis, and the three
phases of interphase

While a cell is in the interphase stage,


the chromosomes are not readily visible
through a microscope. However, the nucleus is easily seen at this time. It has an
outer membrane, the nuclear envelope,
which controls the exchange of
materials between the nucleus and
cytoplasm. Within the nucleus, one or
more nucleoli are visible. These compact

centromere

a)

b)

chromatids

FIGURE 5.5 A human chromosome.

a) A human chromosome as it appears through an electron microscope


b) A chromosome, made up of two chromatids held together by a centromere, as it
appears during late prophase

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spherical bodies are rich in RNA, which


is involved in the production of ribosomes. During interphase, the chromosomes are spread throughout the
nucleus and appear as an irregular network of strands and granules. In this
form, they are called chromatin.
Although mitosis is a continuous
process, it is divided into four stages:
prophase, metaphase, anaphase, and
telophase. The results of mitosis and the
movement of the chromosomes are similar in all eukaryotic cells but there are
differences between different groups of
organisms. Plant cells and yeast cells do
not have centrioles and their division
spindles do not have the asters and
astral rays clearly seen in animal cells.
Yeast cells have structures analogous to
centrioles called spindle pole bodies.
Figures 5.6 through 5.10 show the similarities and differences in cell division
in animals and plants.

Prophase Mitosis in animal cells begins


with the movement of the two pairs of
centrioles to the opposite sides, or poles,
of the cell. The original pair of centrioles
replicated during interphase, along with
the chromosomes. Tiny fibres of protein
called astral rays form around each pair
of centrioles. These astral rays and a
given pair of centrioles take on a starlike appearance and are termed asters.
As the chromatin condenses into shorter,
thicker strands, the chromosomes
become clearly visible. The replication
process that occurred during interphase
is now apparent. These replicated chromosomes appear as strands joined at a
single point called a centromere. Each
identical strand is called a chromatid.
(See Figure 5.5.)
While the chromosomes are condensing, the nuclear envelope breaks
down and the nucleolus decreases in size
and then disappears. More fibres made
of microtubules form between the
centrioles at opposite poles, producing
a network called the mitotic spindle.
Toward the end of prophase, the
spindle fibres attach themselves to the

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chromatids at their centromeres and the


chromosomes begin to migrate to the
centre of the cell. See Figures 5.6 and 5.7.

Metaphase Metaphase is characterized


by the lining up of the chromosomes
across the equator (middle) of the cell.
This is sometimes called the metaphase
plate. The chromosomes are held by
their centromeres midway between the
poles and perpendicular to the spindle
fibres. The chromosomes are now very
condensed and thick. Because metaphase
chromosomes can be seen more clearly
than chromosomes at any other stage,
they are often photographed for study.
The use of metaphase chromosomes to
produce a karyotype is discussed in section 7.1. See Figure 7.1.

WEBLINK

For an animation of mitosis,


go to
www.pearsoned.ca/biology11.

Anaphase Anaphase begins with the separation of the chromatids at the centromere to produce two identical
single-stranded chromosomes. Each separate chromosome is now slowly pulled
toward opposite poles as the protein fibres attached to the centromeres shorten
by a decrease in microtubule sub-units.
Anaphase ends as a complete set of chromosomes arrives at each of the poles.

Telophase Telophase is characterized by


a return to interphase conditions. The nuclear envelope reforms and the nucleoli
reappear. The chromosomes elongate by
uncoiling to become chromatin once again.
The spindle and aster disappear. Two nuclei are visible within the single cell.

Cytokinesis Cytokinesis, the division of


the cytoplasm to form two separate
daughter cells, usually begins during
telophase in animal cells. The cell membrane pinches inward at the equator of
the cell, producing a furrow (Figure 5.8).
This furrow continues to deepen until
two separate daughter cells are formed,
each with its own nucleus. During cytokinesis, the parent cells organelles,
such as ribosomes and mitochondria,
are distributed to the two daughter cells.

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MITOSIS AND CYTOKINESIS


chromosomes
(each a pair of sister chromatids
joined together)

replicated, uncondensed DNA

pair of
centrioles

nucleus

nucleolus

END OF
INTERPHASE
DNA has already duplicated
back in the S phase. Centrioles have
doubled.

spindle fibres
(microtubules)

mitotic
spindle

PROPHASE

metaphase
plate
METAPHASE

Mitosis begins. The chromosomes take


shape as the DNA condenses. The
nuclear envelope begins to break down.
The two pairs of centrioles begin to
move toward the cellular poles,
sprouting microtubules as they go.

Linkage and alignment. The


mitotic spindle consists of
several varieties of
microtubules; some of these
form a football-shaped cage
around the cells former
nucleus, while others attach
to the sister chromatids and
align them at the equatorial
metaphase plate. Each
chromatid now faces the pole
opposite that of its sister
chromatid.

FIGURE 5.6 Mitosis and cytokinesis in animal cells. Note that mitotic cells always have
an even number of chromosomes called the diploid number, although only three
individual chromosomes are shown here and in the diagrams of plant cells in Figure 5.9.

Image omitted due to copyright


restrictions.

Image omitted due to copyright


restrictions.

FIGURE 5.7 Mitosis in animal cells of the


whitefish embryo.

a) Prophase. Early in prophase the chromatin begins to condense.

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b) Metaphase. The metaphase chromosomes line


up on the metaphase plate at the equator of the
mitotic spindle. Asters and astral rays can be seen.

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spindle fibres shortening

cleavage
furrow

separating
chromosome
ANAPHASE
Separation. Sister chromatids are
moved to opposite poles in the
cell by the disassembly of the
microtubules they are attached
to. Each chromatid is now a fullfledged chromosome.

nuclear
envelope
forming
TELOPHASE AND
CYTOKINESIS
Exit from mitosis. Chromosomes
decondense, the mitotic spindle
breaks down, and nuclear envelopes
form around the two separate
complements of chromosomes.
Meanwhile, a cleavage furrow begins
to form near the middle of the cell.

COMPLETION OF
CYTOKINESIS
One cell becomes two.
The cell membrane pinches
together completely, the
membranes on either side fuse
together, and the one cell
becomes two. These two cells
now enter the G1 phase of
interphase.

Image omitted due to copyright


restrictions.

Image omitted due to copyright


restrictions.

c) Anaphase. The chromosomes separate to opposite poles of the mitotic spindle.

d) Telophase. Chromosomes are in two separate


complements. The mitotic spindle is breaking
down. The cleavage furrow is forming.
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Mitosis and Meiosis

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cell plate to form a new cell wall, two


daughter cells are produced.

After Mitosis

Image omitted due to copyright restrictions.

FIGURE 5.8 A dividing frog egg. In animal cells cytokinesis begins with the
formation of a cleavage furrow.

In plant cells, cytokinesis is accomplished by the formation of a cell plate


across the equator of the cell (Figure
5.9). Cell plate formation begins in late
anaphase. As cellulose is added to the

As a result of mitosis, one of each kind


of chromosome from the mother cell is
present in the nucleus of each daughter
cell. The cells of a multicellular organism
are formed through mitosis, so each cell
will have exactly the same number and
kinds of chromosomes as those in every
other cell. If by some chance a cell should
receive an incorrect number of chromosomes due to some malfunction in cell
division, the resulting cell would be
abnormal and might not survive.
How then can cells in the same organism have different forms and functions?
The process of differentiation is
responsible for differences among cells.
This process is studied in the fields of developmental biology and developmental
genetics. Scientists in these fields investigate how some genes are turned on in
cells in one location in an organism,
while remaining inactive in cells in other
parts of the same organism. For example, enzymes specific to liver cells are different from those specific to muscle cells.
Mitosis takes place in the cells we call

CYTOKINESIS IN PLANTS

cell wall

two
daughter
cells

vesicles
cell plate
plasma
membrane
Membrane-lined vesicles
accumulate near the
metaphase plate. The
vesicles contain precursors
to the cell wall.

Vesicles fuse together,


forming a cell plate that
grows toward the parent
cell wall.

The newly formed plasma


membrane and cell wall
fuse with the parent plasma
membrane and cell wall,
forming two distinct
daughter cells.

FIGURE 5.9 Plant cells complete cytokinesis by building a cell wall between the daughter cells.

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cell wall

FIGURE 5.10 Mitosis in plant cells of the hyacinth

a) Prophase. By middle to late


prophase the chromosomes are
condensing. The nuclear envelope
has broken down.

b) Metaphase. Chromosomes
are lined up at the equator of the
cell. Asters are not present.

Molecular Switches
Control Cell Activity
Yoshio Masui spent over 30 years isolating and studying factors in the cell
that control the cell cycle and trigger
cell division. Dr. Masui, along with
the many students that he worked
with at the University of Toronto, designed equipment and techniques to
pursue their studies and stretch a
limited budget. They were able to
identify two key proteins in the cytoplasm of the cell that control the process of cell division in all organisms.
One of these, the maturation promoting factor (MPF), initiates cell division. The second key protein, the
cytostatic factor (CSF), stopped cell
division. The role of each of these
chemicals was identified using
Masuis own microinjection technique
to transfer controlled amounts of
each factor into cells under study. The
contributions of his research to the
understanding of the regulation of cell
division were recognized in 1992

c) Anaphase. Chromosomes separate to the opposite poles of the


cell.

d) Telophase. Chromosomes are


in two separate complements.

when he received the Gairdner


Award (Canadian) and then again in
1998 when he received the Lasker
Award (American). His contributions
to the field of biomedicine are seen
as a major step forward in our attempt to battle cancer. As a professor emeritus at the University of
Toronto, Dr Masui remains actively
engaged in research.
Toronto researchers Josef
Penninger, an immunologist at the
Ontario Cancer Institute, and Peter
Liu, a cardiologist at Toronto General
Hospital, have discovered a protein
that plays a critical role in the

operation of the immune system.


Their findings have been published
in the British journal Nature. The
immune response to an infection
must be controlled or cells may continue to grow, producing a tumour.
Alternatively this overreaction may
cause autoimmune diseases like diabetes or multiple sclerosis. The protein named CD45 found on the
surface of white blood cells is one of
the important off switches for the
immune system. Studies with CD45
will increase understanding of the
mechanism of controlling the immune response.

Image omitted due to


copyright restrictions.

Image omitted due to


copyright restrictions.

a)
FIGURE 5.11 a) Dr. Yoshio Masui

b)
b) Dr. Josef Penninger and his colleague
Dr. Takehiko Sasaki prepare an extract.

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WORD ORIGIN
Karyotype from the Greek,
karyon, meaning a nut,
kernel, or nucleus and tupos,
meaning a stamp, a model or
a pattern.

WEBLINK
Find out how the mitotic
division of cancer cells is
abnormal. Research the
various forms of cancer treatment to determine how they
are directed at this abnormal
cell division in cancer cells.
Identify the success rate of
different methods of treating
various forms of cancer.
Begin your research at:
www.pearsoned.ca/biology11

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somatic cells, that is, all cells of the body


apart from the reproductive cells. Each
type of organism has a characteristic
number of chromosomes present in each
of its somatic cells. Fruit flies have 8
chromosomes, pea plants 14, goldfish
94, and humans 46. Simpler organisms do not necessarily have a lower
number of chromosomes. This number, indicating a complete set of chromosomes, is termed the diploid number.
As mitosis occurs in human cells, a
mother cell with 46 chromosomes will
produce 2 identical daughter cells, each
having 46 chromosomes. The total
chromosome complement, that is, the
number and form of the chromosomes
for any cell, makes up its karyotype.

Image omitted due to copyright


restrictions.
FIGURE 5.12 These cells
are cancer cells from a skin
tumour. They are being grown
for study in the laboratory.
The highlighted cell is undergoing cell division.

Discovering Biology

Mitosis in Onions

The growing tip of an onion root is active in mitosis.


1. Obtain a microscope slide of an onion root tip from your
teacher.
2.

Use a microscope to focus (on high power) on a cell that


was caught in metaphase when the slide was prepared.
Manipulate your slide so that this metaphase cell is in the centre of your field of vision (or at the tip of the eyepiece pointer
if your microscope has one).

3.

Have your teacher check that you have located a cell in


metaphase.

4.

Examine a microscope slide of an onion root that has been


treated with colchicine. Colchicine prevents the formation of
the mitotic spindle so the chromosomes lie free in the cell.
 Compare the appearance of the chromosomes in the
treated and untreated cells.
 What is the diploid number of the onion?

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Mitosis and the


Treatment of Cancer
Cancer is a group of diseases that are
characterized by abnormal cell division.
Researchers have gained a great deal of
information about cancer cells through
extensive experimentation and data collection. Cancer cells are different from
normal cells in two fundamental ways.
First, they are dividing out of control.
This uncontrolled division produces
many wild cells with unusual characteristics. These wild cells may be very
large, very small, have huge nuclei, or
contain an abnormal number of
chromosomes. Thus, cells from a cancer
patient have a unique appearance. Often
this appearance can be useful in distinguishing between the various forms of
cancer. The second unusual feature of
these cells is that they continue to divide
and pile up on one another. This lack
of inhibition combined with rapid division often produces an abnormal lump
of cells called a tumour. Fortunately, not
all tumours are cancerous. If a tumour
shows no tendency to spread, it is
termed benign. However, if a tumour
is capable of spreading, it is termed
malignant. A malignant tumour is
dangerous and capable of metastasis,
moving through the body to invade new
tissues. It is these metastatic growths
that are ultimately life-threatening.
Several forms of treatment, other
than surgery, take advantage of the
knowledge of abnormal cell division in
cancerous tissue. Rapidly dividing
cancerous cells are very susceptible to
any factor that may upset DNA synthesis during replication in the S phase, or
upset the actual mitotic process.
Radiation therapy can be directed at
specific sites in the body to kill cancer
cells by upsetting the mitotic process.
Chromosomes in irradiated cells do not
line up on the metaphase plate properly,
or, in anaphase, migration of chromosomes does not take place. The daughter cells that are produced often have too
much or too little genetic information,
and die as a result. Radiation therapy
thus disrupts cell division. Contd. p.130.

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Decision-Making Skills

Case

Study

The Demand for Human


Tissue

Defining the Issue

Developing Assessment Criteria

Researching the Issue

Analyzing Data and Information

Proposing a Course of Action

Justifying the Course of Action

Communicating Your Proposal

B A C K G R O U N D I N F O R M AT I O N

Advances in biotechnology have created a global


demand for practically every component of the
human body including blood, brain tissue, bone samples, saliva, sperm, eggs, skin, and DNA. These items
are in high demand by academic institutions,
government research labs, and biotechnology
companies.
Some people feel that the human body is sacred
and should not be put up for sale. Doing so reduces
us to mere objects, commodities, or products. Other
people argue that body parts are a natural asset that
individuals should be free to do with as they please.
Advances in the biomedical industry are also
raising questions about ownership. A few years ago
a man sued his doctor and several pharmaceutical
companies for using his blood and tissue samples
without his consent. The samples were used to
create a commercial cell product now estimated to
be worth billions of dollars. The man lost the case
because the court felt that people should not own
the rights to their own tissues because this might
hinder medical progress.
Source: Discover, February 2001 Volume 22, Number 2

Image omitted due to copyright restrictions.

FIGURE 5.13 Human blood products today have a price tag.

Analyzing the Issue


1.

2.

Prepare a consequence map, using the following categories: scientific, social, economic, political, ethical, and
any additional categories that you feel should be
considered.
Research the ethical and cultural perspectives that influence points of view on this issue. Explain how they
affect public opinion and government policy.

3.

What could some of the future social and economic impacts of marketing human tissue be?

4.

Write a position paper to defend your own point of view


on this issue. Use research, as well as your own beliefs, to support your opinion.

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INFOBIT
It is estimated that there were
approximately 132 100 new
cases of cancer and 65 000
deaths from cancer in Canada
in the year 2000. Men
outnumbered women for both
new cases (67 900 versus 64
200) and deaths (34 600 versus
30 400). Three types of cancer
accounted for at least 50% of
these new cases in each sex:
prostate, lung, and colorectal
cancers in males, and breast,
lung, and colorectal cancers in
females. Almost one-third of
the cancer deaths in men and
almost one-quarter of the
cancer deaths in women were
due to lung cancer.

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Chemotherapy involves the use of


a wide range of drugs. Once injected,
these drugs affect the whole body and
all actively dividing cells, not just the
cancerous cells. The majority of these
drugs are effective because they disrupt
DNA replication and eliminate the
cancer cells mitotic ability. Many
chemotherapy patients lose their hair
because normal, actively-dividing hair
follicles are affected by the drugs. Cell
division stops in the hair follicles. The
dead cells produced in chemotherapy
degenerate and their compounds are
eventually reutilized by the body.

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More recently, techniques of


immunotherapy use the bodys own
immune defences to treat cancer. The
use of chemicals produced naturally in
the immune response may someday
replace the chemicals traditionally used
in chemotherapy.
Doctors and researchers are
becoming more optimistic about the
chances of a cure for cancer as they
come to better understand the disease.
In addition, with early diagnosis and
improved treatment, cancer diseases are
being dealt with at earlier stages. As a
result, a higher cure rate has been
attained with many types of cancer.

Section 5.1 Review


Understanding Concepts
1. Why is mitosis necessary? How does
it contribute to genetic continuity?
2. Describe the stages in the cell cycle.
3. In a flow chart summarize the events
that occur in each of the four stages of
mitosis. Include drawings and text.
4. Use a T-chart to contrast mitosis and
cytokinesis in plant and animal cells.
5. If chromosomes do not divide properly during mitosis, the daughter cells
can end up with an abnormal number
of chromosomes (some number other
than the diploid number). Hypothesize
the effect of the abnormal number of
chromosomes on the functioning of the
daughter cell. Put forward evidence to
support your hypothesis.
6. Colchicine prevents the formation of
the mitotic spindle in dividing cells.
What effect would this drug have on
mitosis? Support your answer.

Applying Inquiry/
Communication Skills
7.

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Mitosis ensures that all cells in a multicellular organism contain a complete


set of genetic instructions. Many types
of differentiated cells that are part of a
tissue exist in these organisms.
Research the ways that parts of a cell

become exaggerated in order to carry


out a specific function in nerve cells or
muscle cells, for instance. There is a
negative aspect (in terms of the abilities of the cell) when this type of specialization takes place. What drawback
is there when a cell undergoes differentiation to become part of a tissue?
8. The rate of cell division varies in the
human body, depending on the location of the tissue type considered.
Suggest locations in the human body
where the rate of cell division would
be high and others where it would be
low. Support your suggestions with
evidence.

Making Connections
9. Research immunotherapy using a variety of print and electronic resources.
Explain the proposed advantages of
this form of cancer therapy. Based on
your research, do you believe that
immunotherapy will be a beneficial
treatment. Why? Why not?
10. A knowledge of cell division and the
controls determining the rate of cell division may be important in our understanding of the ageing process. Should
society pursue this type of research in
an effort to lengthen the human life
span? Write a supported opinion.

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5.2 Meiosis
Key Understandings

When you have completed this section, you will be able to:
 explain the need for meiosis in organisms that reproduce sexually
 explain the importance of chromosome number and structure
 describe the key events of meiosis
 distinguish between the formation of egg cells, and sperm cells
 compare mitosis to meiosis

Mitosis ensures genetic continuity of cells


within any multicellular organism. The
specific chromosome number characteristic of the species is maintained by
mitotic division which ensures every cell
within the organism has the same chromosome number. The general body cells
are called somatic cells. When special sex
cells or gametes unite in sexual reproduction the number of chromosomes is
crucial. If two body cells with a full complement of chromosomes were allowed to
unite, each new organism in each new
generation would have twice the number
of chromosomes its parents had. Because
each species has a specific number of
chromosomes, a new kind of life form
would result, if it were to develop at all.
To prevent this type of doubling from
occurring in sexual reproduction, a division process other than mitosis is needed.
This division process is meiosis. A comparison of the processes of mitosis and
meiosis is given on page 142, Table 5.2.

Chromosome Number and


Structure
Human somatic cells contain 46 chromosomes. This is termed the diploid
number and is designated 2n. The 46
chromosomes are not actually 46 distinctively different units. They are arranged in 23 pairs of homologous
chromosomes. One chromosome of each
pair came from the individuals mother
and the other came from the individuals
father. The 23 chromosomes that came
from the mother are called the maternal
set of chromosomes and the 23 chromosomes that came from the father are

called the paternal set of chromosomes.


Each of the homologous chromosomes (homologs) carries information for
the same hereditary traits as its partner.
The information for any specific trait is
in the form of a gene, a hereditary unit
which is, a length of DNA. Each gene has
a particular position or locus (plural loci)
on a chromosome and the two chromosomes of a homologous pair carry genes
for the same trait at the same locus.
The genes for a specific trait are not
necessarily identical. For example, if a
gene on one homolog codes for attached
earlobes, the gene on the other homolog
at the same locus may code for free earlobes. The different forms of the same
gene are called alleles. The earlobes of
the individual involved will result from
the interaction of the alleles present on
the homologs.
Each homologous pair of chromosomes carries genetic information for
thousands of hereditary traits. Mitotic
cells, specially treated so that the
metaphase chromosomes do not separate, allow us to identify the pairs of
homologous chromosomes. Pairs are
FIGURE 5.14

a) A person with
attached earlobes
b) A person with free
earlobes

Image omitted due to


copyright restrictions.

Image omitted due to


copyright restrictions.

a)

b)

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FIGURE 5.15 Homologous


chromosomes. Homologous
chromosomes are the same
size and shape. They carry
information for many traits.
These chromosomes are
double-stranded, as in a
colchicine metaphase preparation. The chromatids of each
double-stranded chromosome
carry identical information.
The other homolog has information for the same traits at
the same gene loci. The homologous chromosomes may
carry different alleles of the
gene at a particular locus: for
example, at the earlobe locus
shown here.

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attached
earlobes

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attached
earlobes

free
earlobes

chromatid
blond
hair

blond
hair

blond
hair

blond
hair

sister chromatids

matched by their length, centromere position, and the patterns of banding that
result from staining the chromosomes.
Figure 5.15 shows the characteristics of
homologous chromosomes in a colchicine
metaphase preparation.
The process of meiosis produces
gametes that contain one of each of the
homologous pairs of chromosomes. The
number of chromosomes in each gamete
is one-half of the diploid number. This is
called the haploid number, designated
n. In humans n is 23. When fertilization
occurs in sexual reproduction in humans,
two haploid gametes, the egg or ovum
(female) and sperm (male), join to make

multicellular
diploid
adults

1n

egg
sperm

fertilization
2n

mitosis and
development

zygote

haploid (1n)
diploid (2n)
FIGURE 5.16 The human life cycle. The diagram relates the roles of meiosis and mitosis in
our life cycle. The diploid phase is shaded blue.

UNIT 2

free
earlobes

centromere

meiosis

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Genetic Continuity

a single diploid cell called the zygote, the


first cell of the new organism. This
zygote is now capable of mitosis and
differentiation. In this new organism, one
homolog of each pair of homologous
chromosomes came from the father and
the other from the mother. Each human
cell contains 23 paternal chromosomes
and 23 maternal chromosomes.

Stages of Meiosis
Meiosis ensures that sex cells have the
right type (one of each homologous pair)
and number (haploid) of chromosomes.
As a result, when the gametes come
together in fertilization, the zygote will
receive the right type and number of
chromosomes. Meiosis occurs only in the
reproductive tissues of sexually reproducing organisms. In humans, sperm are
produced by special cells called spermatogonia in the male testes, while eggs
are produced in the oogonia in the
female ovaries. In plants pollen and
ovules are produced.
Mitosis consists of a single division
of the nucleus. Meiosis is characterized
by two major divisions, called meiosis I
and meiosis II. Each division is further
subdivided into prophase, metaphase,
anaphase, and telophase. Meiosis I and
meiosis II show some similarities to mitosis but also have some unique features.
Study Figure 5.18 as you read the description of meiosis. The diploid number
for the hypothetical organism shown in
Figure 5.18 is 4. Compare this number
with the diploid number of 46 in humans.

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First Meiotic Division (Meiosis I) The


genetic material has been synthesized
in the S phase before meiosis
(pre-meiotic S). This is a similarity to
mitosis where, the chromosomes replicate prior to prophase. In prophase I of
meiosis, the chromosomes begin to condense and shorten and become visible.
Homologous chromosomes come
together in a process termed synapsis,
so that they lie side by side along their
entire length. When the homologs come
together, they often break and rejoin at
several places. As the chromosomes
shorten and thicken, it can be seen
that the replicated chromosomes are
composed of two identical chromatids
joined by a centromere. The unit formed
by each homologous pair of chromosomes now consists of four chromatids
and is called a tetrad. The points where
chromatids break and reunite are called
chiasmata. Breakage and reunion allows chromosomes to exchange genetic
material. This process is known as genetic recombination or crossing over
because at the point of recombination,
the genetic material on the chromosome
crosses from one homolog to the other.
This process allows for greater genetic
variation in a population of a species
because it recombines genes in new
combinations. (See Figure 5.17.)
The activities in the rest of the cell
at this time are similar to those during
mitosis. The nuclear membrane and nucleoli have disappeared, and in animal
cells the centrioles have migrated to the
poles to produce the asters and spindle.
2 chromatids

tetrad

a chiasma

FIGURE 5.17 Chiasmata visible in the first division of meiosis in the grasshopper. The tetrad is
composed of four chromatids.

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Plant cells and yeast do not have centrioles as part of their division spindles.
In late prophase I, the tetrads move
toward the equator of the cell.
As metaphase I begins, the tetrads
(homologous pairs) move onto the spindle and line up with their centromeres
at an equal distance from the equator of
the spindle. Anaphase I now begins. In
mitosis, the chromatids of a single chromosome move apart at this point. In
meiosis, the chromatids do not separate
in meiosis I. Instead, the homologous
pairs move apart as they separate, with
one chromosome going to each pole.
During telophase I, the chromosomes
condense slightly and a nuclear membrane may form. At the end of the first
division of meiosis, there are two daughter cells, each with exactly half the number of chromosomes of the parent cell.
As a result, meiosis I is often called the
reduction division because the number
of chromosomes has been reduced by
half: from 2n to n or, in the example
shown in Figure 5.18, from four chromosomes to two.

Investigation
Refer to page 147,
Investigation 1

Second Meiotic Division (Meiosis II) In


most organisms, the interphase after
meiosis I is very brief, while in some it
is totally lacking. There is no duplication
of chromosomes in the interphase
between meiotic divisions. The second
meiotic division may be similar to mitosis, but it begins with half the genetic
material of mitotic cells. Each cell has
the n number of double-chromatid chromosomes. When the spindle forms at the
end of prophase II, each chromosome,
made up of two chromatids, lines up on
the equator. The centromeres split and
one chromatid of each chromosome is
pulled to each of the opposite poles of
the cell. The number of chromosomes
per cell remains the same. In telophase,
the nuclear membrane begins to reform
as the meiotic process nears completion.
Each of the cells produced will contain
the haploid number of chromosomes. As
a result of meiosis, one diploid cell can
produce four haploid cells.

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MEIOSIS I
Diploid

END OF
INTERPHASE
DNA has already
duplicated

PROPHASE I

Microtubules
move homologous
chromosomes
to metaphase plate.

Crossing over
occurs.

Independent
assortment
occurs.

Two very important


sources of genetic
variation

CROSSING OVER
Exchange of parts of non-sister chromatids.
duplicated
maternal
chromosome

duplicated
paternal
chromosome

tetrad

sister
chromatids
non-sister
chromatids

FIGURE 5.18 Stages of meiosis

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METAPHASE I

Homologous
chromosomes
link as they
condense, forming
tetrads.

ANAPHASE I
Microtubules
separate homologous
chromosomes
(sister chromatids
remain together).

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MEIOSIS II
Haploid

cytokinesis

cytokinesis
TELOPHASE I
Two haploid
daughter cells
result from
cytokinesis.

PROPHASE II

METAPHASE II

(Brief)

Sister chromatids
line up at new
metaphase plate.

ANAPHASE II
TELOPHASE II
Sister chromatids
separate.

Four haploid
cells result.

INDEPENDENT ASSORTMENT
Random alignment of
maternal/paternal
chromosomes at the
metaphase plate.

METAPHASE I

METAPHASE II

TELOPHASE II

Homologous chromosomes
lined up this way in this
meiosis ...

... but they could have


lined up this way, yielding
a different outcome.

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Mitosis and Meiosis

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Contents

WEBLINK

To view a simulation of meiosis,


go to
www.pearsoned.ca/biology11.

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Random Assortment of
Chromosomes
During the separation of the doublestranded chromosomes at anaphase I of
meiosis, there is no necessity for chromosomes that came from the father (the
paternal set) to stay together or for chromosomes that came from the mother
(the maternal set) to stay together.
In other words, there is random
assortment of the chromosomes (Figure
5.19). Some gametes may receive all
paternal chromosomes. Some may
receive all maternal chromosomes.
These results are unlikely according to

meiosis

FIGURE 5.19 Random assortment of chromosomes in organism with 2n = 6

Discovering Biology
Random Assortment of Chromosomes
During meiosis chromosomes assort randomly. Model random
assortment of chromosomes during meiosis in an organism with
2n = 8. Use modelling clay, pipe cleaners, strips of differentcoloured paper, or materials of your choice. Make the four
chromosome pairs different lengths and use a different colour for
maternal and paternal sets. Demonstrate the different possible
combinations of chromosomes in gametes.

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probability. Others may receive a mixture


of maternal and paternal chromosomes.
The number of different possible kinds of
gametes produced by random assortment
of chromosomes is 2n where n is the haploid number of chromosomes in the organism. How many possible different
gametes can you get from meiosis when
2n = 46?
Meiosis is therefore an important
source of genetic variability. There are
two ways that meiosis produces variability. The first way is through random
assortment of chromosomes. Because
maternal and paternal sets of chromosomes do not need to stay together, an
organism with a diploid number of 10,
that is, 5 pairs of chromosomes, can produce 25 or 32 different combinations of
chromosomes. Any one of these 32
different combinations in an egg could
come together with any one of the 32
possible combinations in a sperm. What
are the total possible combinations for
that species, depending on random
assortment alone?
The second way that meiosis produces variability is from crossing over
or genetic recombination as a result of
breakage and reunion of chromatids
during prophase of meiosis I. Genetic recombination from breakage and reunion
may occur at different points along the
chromosomes, and so each chiasma will
affect different genes. The number of
possible gene combinations that result
from genetic recombination is extremely
large, and that is in addition to the variety of combinations resulting from random assortment of chromosomes. This
enormous potential variability explains
why some siblings may look very much
alike while others in the same family
look very different.

Sperm and Egg Cells


At the end of meiosis in male animals,
four functional cells called spermatids
are produced. These spermatids then
undergo differentiation to become sperm
cells. Sperm cells are characterized by
having a head (containing the nucleus),

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a tail (flagellum) for movement, and a


middle piece containing mitochondria
that provide energy for the beating of
the tail. The sperm of various species
are quite different. However, they are
always quite small relative to the female
gamete as seen in Figure 5.20.
The nuclear events in the production of the female gamete, tetrad formation, crossing over, anaphase I and
anaphase II separations, are exactly the
same as those occurring in the male, but
the events in the cytoplasm are different. In meiosis I in the female, the division of the cytoplasm is unequal,
producing one large cell (a secondary
oocyte) containing nearly all the nutrients and cytoplasm, and one small cell
(the first polar body) containing only the
nucleus. In meiosis II, the secondary
oocyte divides unequally once again. One
large ovum or egg, and a second, small,
polar body result. The first polar body
may divide, but usually it simply deteriorates. At the end of meiosis in the
female animal, only one functional egg
is produced in contrast to the four sperm
cells produced in the male. The unequal
cytoplasmic divisions ensure that the
mature egg will have enough cytoplasm
and nutrients to support development of
the zygote following fertilization. See

Sperm Banks
Reproductive technologies pose ethical, moral, and legal questions for
individuals, as well as society as a
whole. For example, the use of
sperm banks is a controversial issue.
Couples who are unable to conceive because the male is infertile
may consider obtaining donor sperm
from a sperm bank. In such cases,
offspring will receive 50% of their
genetic make-up from the mother
and 50% from the sperm donor.
Genetic information about sperm

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FIGURE 5.20 Hundreds of


sperm cells are attempting to
fertilize this single egg cell. The
relative size of the two sex cell
types is clearly illustrated.

Image omitted due to copyright


restrictions.

Image omitted due to


copyright restrictions.

a)

Image omitted due to


copyright restrictions.

b)

FIGURE 5.21 The second division of meiosis in the egg of a marine worm.

a) Metaphase II as seen from the pole of the spindle


b) Anaphase II. The first polar body can be seen.

Figure 5.22 on the next page for the differences in gamete formation in animals.

donors and their family histories are


carefully recorded. Usually the sperm
of a male who is similar in characteristics to the sterile male is used.
In this way the child may possess
characteristics similar to both members of the couple. Some geneticists
have expressed concern that if many
children are conceived in this way, it
is possible that two individuals who
are genetically related might unknowingly marry and produce
children.
In a highly controversial case in
the late 1970s, Robert K. Graham
opened the Repository for Germinal
Choice, a sperm bank Graham
claimed had Nobel Prize Winner
sperm for sale. Eventually, Graham

said that the majority of the sperm


came from professionals and young
scientists. The repository was
clouded in secrecy and rumour until
it closed in 1999. It claimed to be responsible for the birth of 229 children spread across 7 countries.
Graham was criticized extensively by
the genetic community for his attempt
to produce so-called genius babies
or designer babies. Geneticists
viewed this as unacceptable interference in the characteristics of the
next generation.
Reproductive technologies are a
matter for societal consideration, requiring the thoughtful attention of scientists, ethicists, religious leaders,
and individual citizens.

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SPERMATOGENESIS

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OOGENESIS

oogonium

spermatogonium

primary
oocyte

primary
spermatocyte

meiosis I

polar
body

secondary
spermatocytes

secondary
oocyte

meiosis II

spermatids
polar bodies
(will be degraded)
a)

b)

FIGURE 5.22 Gamete formation in animals. In sperm formation diploid


spermatogonia divide by mitosis to produce primary spermatocytes that pass
through meiosis to produce four spermatids. In egg formation oogonia divide by
mitosis to produce primary oocytes that pass through meiosis to form one egg
and two or three polar bodies. Sperm and egg cells both have the haploid number
of chromosomes. Four functional sperm result from meiosis in the male while only
one functional ovum results from meiosis in the female.

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egg

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Chromosome Numbers

Complete the table to show the number of chromosomes present in different


stages of cell division in a variety of species.
TABLE 5.1 Number of Chromosomes Present at Different Stages of Cell Division

Cabbage

Number of
Chromosomes
in Daughter
Cells of Mitosis

Diploid
Number

Haploid
Number

Number of
Pairs of
Homologous
Chromosomes

Number of Chromosomes Present in Meiosis


at Beginning of Each Phase
Prophase I

Prophase II

Telophase II

18

18

18

Trillium

Black Bear

38

Human

23

Fruit fly
Peanut

8
40

Mistakes in Meiosis
Meiosis is an elegant process but in any
organism errors in meiosis sometimes
occur. These errors may be the result of
mistakes in separation of the chromosomes during division or of an incorrect
exchange of genetic information during
chiasma formation. Many genetic disorders in humans can be traced back to
errors in the formation of the gametes in
meiosis. Mistakes in meiosis can result
in an abnormal number of chromosomes
in an egg or sperm cell. If this egg or
sperm is then involved in fertilization, the
zygote will exhibit an abnormal number
of chromosomes. The child produced
from this zygote (following mitosis and
differentiation) will have cells with too
few or too many chromosomes, a
condition known as aneuploidy. Down
syndrome is an example of aneuploidy.
In another abnormality, chromosomes exchange information incorrectly
during the crossing-over process of
meiosis. The resulting sex cells, and
ultimately the fetus produced from
fertilization involving these cells, will

have the correct number of chromosomes, but the genetic information may
be altered or the chromosomes may
contain duplications or deletions of
genetic material.

Abnormal Chromosome Number


Aneuploidy is caused by a mistake in the
meiotic process known as nondisjunction. If the homologous chromosomes
fail to move apart properly during
meiosis I, or the sister chromatids do not
separate during meiosis II, the resulting
gametes will have either extra or missing chromosomes. If fertilization involves
a sex cell that is missing a chromosome,
the resulting child will have only one
copy of a particular chromosome, a
condition known as monosomy. If
fertilization involves a sex cell that has
an extra chromosome, the resulting child
will have three copies of a particular
chromosome, a condition known as
polysomy. In either case, if the child
survives, he or she will show effects
associated with the genetic information
carried on the chromosome involved in
the aneuploidy. Down syndrome is a type

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Image omitted due to


copyright restrictions.

FIGURE 5.23 deVries in his

genetic garden

Investigation
Refer to page 148,
Investigation 2

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of polysomy that results from an extra


chromosome 21 (trisomy 21). This
condition and several other numerical
abnormalities are described in Chapter
7. The effects of nondisjunction in the
meiotic process are illustrated in Figure
5.24.
In a more severe disruption of the
meiotic process, an abnormal male or
female gamete produced from the nondisjunction of all of its chromosomes may
unite with a haploid gamete to produce a
zygote with three sets of chromosomes
(69 in humans). This zygote has a chromosomal alteration known as polyploidy.
In this case the zygote produced would
be described as triploid or 3n. Accidents
of this sort are extremely rare in the
animal world because the zygote usually
doesnt complete its development.

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However, polyploidy does occur more


frequently in plants.
In the early years of the twentieth
century the geneticist Hugo de Vries was
studying the evening primrose Oenothera
lamarkiana. de Vries discovered the
possibility of polyploidy in plants. In
autopolyploidy, nondisjunction during
meiosis results in gametes that are diploid.
Self-fertilization produces a tetraploid
(4n) offspring. Such offspring can self-fertilize or mate with other tetraploids to produce viable offspring (offspring that
survive to maturity).
If the tetraploid mates with the original (2n) species the combination of an n
gamete with a 2n gamete results in a
triploid organism. This organism may be
viable but is not fertile. It cannot produce
normal gametes.

FIGURE 5.24

Nondisjunction results
in an abnormal
chromosome number.
Nondisjunction, the
abnormal separation of
chromosomes, can
occur in either meiosis I
or meiosis II. If
nondisjunction happens
in meiosis I all the
gametes will be
abnormal in number.
If it happens in meiosis
II, only half of the
gametes will be
abnormal in number.

nondisjunction
in meiosis I

normal
meiosis I

normal
meiosis II

nondisjunction
in meiosis II
gametes
24

24

22

abnormal number of
chromosomes
100%

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22

23

23
normal
50%

22

24

abnormal number
of chromosomes
50%

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The original diploid form and the


new tetraploid form can co-exist but they
cannot produce fertile offspring.
Therefore they are different species. As
a result of the original nondisjunction, a
new species has been formed. This situation is called sympatric speciation.

Abnormal Chromosome Structure


Sometimes during the crossing-over process that occurs during meiosis I, the
pieces of genetic information that are exchanged do not reattach properly to the
chromosomes involved. A deletion
occurs if a chromosome fragment fails
to reattach to the homolog and is somehow lost. If this segment reattaches to a
complete homolog, then the resulting
chromosome will have a duplication. If
this segment reattaches to the correct
homolog but in the reverse order, then
the chromosome is said to have an
inversion. In the fourth type of incorrect
reattachment, the segment of DNA

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attaches to a nonhomologous chromosome producing a translocation. If


fertilization involves a gamete that has
one of these alterations, the child
produced may exhibit a wide range of
symptoms depending on the severity of
the genetic alteration and the specific
genetic information involved. Figure 5.25
illustrates each of these alterations to
chromosomal structure.

Meiosis versus Mitosis


Mitosis and meiosis are different. Mitosis
is essential for the development and
maintenance of each individual. Meiosis
is essential for gamete production and
the continuation of the species into the
next generation. They are similar in that
DNA is replicated, a division spindle is
required, and different phases are observed. The processes are summarized
in Table 5.2.

normal chromosomes
A B

C D

V W

A B

C D

V W

duplication
C D

V W

A B

C D

V W

A B

C D

V W

A B

C D

V W

inversion
C D

V W

A B

A B

C D

V W

A B

C D

WORDORIGIN
Sympatry from the Greek Sun
meaning together and
patria meaning father land:
refers to species that co-exist
but cannot produce fertile
offspring.

a) a duplication causes the


repetition of a segment.

b) a deletion causes the


removal of a segment.
c) an inversion reverses the
proper sequence of the
genetic information.

translocation

A B

Canadian wheat. Our common


bread wheat, Triticum aestivum
is an example of polyploidy
resulting from a cross of
T. monococcum (goat grass
with a diploid number of 14)
and T. dicoccon (Emmer wheat
with a diploid number of 28).
This cross produces bread
wheat with a
chromosome number of 42.
This variety of wheat exhibits
large kernels and produces
excellent pasta and stock feed.

FIGURE 5.25 Alterations


caused by improper crossing
over. The colours indicate the
regions involved in the improper rearrangement of chromosomes. The letters
represent the location and sequence of genes along the
chromosome.

deletion

A B

INFOBIT

V W

C D

V W

CHAPTER 5

d) a translocation moves a
segment from one chromosome to a nonhomologous
one.

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Mitosis

Meiosis

Function of Process

ensures genetic continuity within the individual


from cell to cell
for growth, repair, and maintenance

ensures genetic continuity from one generation to


the next for a given species
to prevent the doubling of chromosome number
from one generation to the next

Location of Process

in all body (somatic) cells, with the exception of


reproductive organs

only in the reproductive organs in designated cell

Number of Divisions

1 division

2 successive divisions
Meiosis I reduction division
Meiosis II similar to mitosis

Number of Cells
Produced in Animals

2 identical daughter cells

male 4 functional sperm cells


female 1 functional egg cell or ovum (in humans,
for example)

Number of
Chromosomes per Cell
at End of Process

diploid number 2n
46 in humans

haploid number n
23 in humans

TABLE 5.2 Comparison of


the processes of Mitosis and
Meiosis

Section 5.2 Review


Understanding Concepts
1. In your own words, outline the process
of meiosis.
2. Why are the number and shape of
chromosomes important to a species?
3. How are homologous chromosomes the
same? different?
4. Explain the origin of each homolog
within any given homologous pair of
chromosomes.
5. Meiosis has an essential role in organisms that reproduce sexually.
Explain.
6. Make a diagram of the human life cycle
to demonstrate the relationships
between the terms diploid and haploid and the processes of meiosis,
mitosis, and fertilization.
7.

Briefly outline the events of the first


and second meiotic divisions. Why is
the first meiotic division described as
reduction division? How is the second
meiotic division similar to the mitotic
process?

8. Compare and contrast the production


of gametes in female and male animals.
9. Describe the disruption in the meiotic
process that would cause:
a) aneuploidy b) polyploidy c) a deletion d) a translocation.
10. Write a paragraph to highlight the similarities and differences between
mitosis and meiosis.

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Applying Inquiry/
Communication Skills
11. A diploid cell contains 4 pairs of chromosomes designated #1, #2, and #3
#4. Each pair contains a paternal and
maternal chromosome (1p and 1m, 2p
and 2m, 3p and 3m, 4p and 4m).
Illustrate the possible combinations
of chromosomes that could be observed
in the haploid gametes resulting from
meiosis in this cell. Use a diagram and
a table.
12. An organism has a diploid number of
10. Calculate the probability that
a gamete will contain five paternal
chromosomes.

Making Connections
13. Geneticists can intentionally disrupt the
meiotic process in plants and animals
to produce new mutations or abnormal
chromosome numbers in the sex cells
of these organisms. The intent is to
produce a new organism that possesses
a new desirable combination of traits.
Should scientists be tampering with life
in this manner? Should consideration
be given to the type of organism that
undergoes this manipulation? In paragraph form outline two advantages and
two disadvantages that could result
from this type of research. Support
your statements with research.

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5.3 Sexual versus Asexual Reproduction


Key Understandings

When you have completed this section, you will be able to:
 explain how genetic continuity is maintained in asexual reproduction
 describe several different methods of asexual reproduction
 explain the importance of genetic recombination and the necessity of meiosis
 describe the advantages and disadvantages of asexual and sexual reproduction

Asexual Reproduction and


Genetic Continuity
In some organisms, one parent alone is
capable of producing a new individual.
The hereditary information is transmitted from one generation to the next
through a process termed asexual
reproduction. The single parent may
split, bud, or fragment to produce a new
individual. The genetic information in any
new individuals will be identical to the
original parent (unless a chemical change
in the DNA, called a mutation, occurs).
As a result, asexual offspring will display traits very similar if not identical to
one another and to the original parent.
Asexual reproduction may produce
many offspring very rapidly; as an extreme example: if bacteria divide every
20 min, one bacterial cell could give rise
to more than 2 million bacteria in 7 h.
Genetic continuity is maintained in asexual reproduction, but the chance of variability is very low. Forms of asexual
reproduction are reviewed in Table 5.3.

Characteristics of Sexual
Reproduction
Meiosis produces haploid gametes containing one of each of the homologous
pairs of chromosomes. The products of
meiosis are different from each other
because of the random assortment of
chromosomes and also because of the
genetic recombination that occurs during prophase I. There are thousands of
possibilities for each gamete. When

fertilization occurs in sexual reproduction, a diploid zygote results. This zygote


contains all of the genetic information
required to produce an individual of the
species involved.
Regardless of which organism we
consider, if sexual reproduction is utilized, two parents and two different
sex cells are required. Two gametes from
among the thousands possible come
together to form a unique offspring. As
a result, the offspring produced will contain a mixture of hereditary information
from both parents and will not look
exactly like either parent. The characteristic chromosome number and form
for the species are maintained, but
individuals produced in each successive
generation will show variation. They will
not be exactly the same. Meiosis and
sexual reproduction mean variation.

Sexual versus Asexual


Reproduction
Some organisms are capable of both sexual and asexual reproduction. This is quite
common in the plant kingdom. Why do
different organisms display two types of
reproduction? Asexual reproduction involving one parent produces identical
copies (clones) in a relatively short time.
This appears to be the easiest means of
reproducing. Why dont all living organisms use this approach to reproduction?
Sexual reproduction requires a much
greater amount of time and energy. Is the
ability to produce offspring with genetic
variation a significant advantage?

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TABLE 5.3 Methods of Asexual Reproduction

Method of
Asexual
Reproduction

Organisms
Utilizing This
Method

Description

Binary Fission

Bacteria

. Bacteria lack organelles for mitosis and the


bacterial chromosome remains attached to
the cell membrane. Under ideal conditions
occurs once every 20 min.
Parent cell undergoes cell division to produce two new individuals.
Parent organism is lost in process.

Amoeba
Paramecium

Illustration

a) A micrograph of an Amoeba completing


binary fission.

Budding

Yeast

Hydra

Fragmentation

Flatworms
Sea stars

Nuclear material undergoes mitotic division


Cytoplasm divides but smaller cell
(bud) remains attached to the larger cell
(parent).
Bud will eventually separate from parent.
Budding begins as a bulge growing from the
parent.
The multicellular bud eventually separates
from the parent.

b) Budding in Hydra. The genetically identical bud will eventually separate from the parent Hydra to form a new individual.

Body of parent breaks into several pieces.


Each piece regenerates missing parts to produce a whole organism.

c) A sea star can regenerate a complete


organism from a piece of one arm.

Vegetative
propagation

Wide range of
plants

New plant is formed from a piece of root,


stem, or leaves of the parent plant.

d) In addition to sexual reproduction, a


Kalanchoe plant can produce complete small
plants along the edges of its leaves.

Spores

Ferns
Bread moulds
Mushrooms

Specialized spores contain genetic information inside of tough outer casings. They may
be stored in spore cases, called sporangia,
until released.
If a spore lands where conditions are
favourable the spore will grow into a new organism.
e) Sporangia containing spores on the back
of a fern leaf.

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FIGURE 5.26 What advantage might this human


population gain by having
such a wide variety among
its members?

Image omitted due to copyright restrictions.

The answers to these questions lie


in a consideration of evolution and the
environment. When the environment is
not changing, asexual reproduction will
allow a well-adapted organism to rapidly
produce a new generation of similarly
well-adapted organisms. But what if the
environment changes? Then the asexual organism will have difficulty in
adapting to the changing environment.
When the environment changes, any
species that shows variation from one
generation to the next will have a better
chance of survival. Sexually produced
offspring are all slightly different. Some
individuals may be better adapted to the
new conditions. They will live to perpetuate the species. Biologists say that
the species has undergone adaptation.

A Theory of Sexual
Reproduction
Many theories have been put forward attempting to account for the importance
of meiosis and the advantages of sexual
reproduction. Success of a species is a
different thing from the life of an individual of the species. Sexual organisms
may not produce many offspring but

those they do produce are unique and


may respond differently to different environmental conditions. If the environment changes, there is the possibility that
at least some of the offspring may survive to thrive under the new conditions.
Asexual organisms produce many
identical offspring but they are all the
same. Therefore an environmental
change that negatively affects one of the
offspring affects all the members of the
population in the same way. The whole
population may be wiped out by one environmental change.
Sexual reproduction can still be
risky. There is the problem of finding a
mate. The risk that a mate may not be
found in a species whose members are
at a low density means the risk that no
offspring will be produced. Also, parental
genes sometimes combine in ways that
are not beneficial. However, in sexual reproduction, offspring can sometimes be
better adapted to their environment than
their parents are. If this is the case, the
offspring will most likely survive. In
terms of evolution and the survival of the
species over time, it is the probability of
passing on genes to the next generation
and the future that counts.
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Image omitted due to copyright restrictions.

Image omitted due to copyright restrictions.

a) Penguins

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b) Gannets

FIGURE 5.27 Populations and variability. These populations do not appear to have
a great deal of variety in external appearance. However, each individual is unique in
its combination of internal physiology and chemical makeup. What advantage might
these populations gain by maintaining diversity among their members?

Section 5.3 Review


Understanding Concepts
1. Describe how genetic continuity is
maintained in asexual reproduction.
2. Explain why individuals resulting from
any form of asexual reproduction are
identical to the parent.
3. What general differences exist between
sexual and asexual reproduction?
Communicate your ideas in a graphic
organizer.
4. Outline the process of genetic recombination and describe the outcome of
this process.
5. Make a list of environmental conditions
that would benefit:
a) organisms that reproduce
sexually.
b) organisms that reproduce
asexually
6. Define the term adaptation. Describe
how sexual organisms adapt.

Applying Inquiry/
Communication Skills
7.

Horses have a diploid number of 64


and donkeys have a diploid number of
62. Mules result from crossing a male
donkey with a female horse. Mules are
usually sterile. How many chromosomes will a mule cell contain? If mules
could be crossed with each other, what
chromosome problem would exist?
Prepare a diagram of the diploid state
of the two animals, the make-up of any
gametes formed, and the chromosome
problems found in the mule.

Making Connections
8. Reproductive technologies are becoming more common in todays society.
List the ethical issues raised by the use
of these technologies. Propose an argument for and against the use of reproductive technologies. Write an
argued, supported paragraph that expresses your point of view.
9. Couples who have the potential to produce a child with a serious genetic defect should be discouraged from having
children. Do you agree or disagree
with this statement? Present your answer as a supported opinion.

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Inquiry Skills

Investigation 1

(Section 5.2)

Observing Cells in the Process of Meiosis

Initiating and Planning

Applying Technical Skills

Using Tools, Material, Equipment

Conducting and Recording

Analyzing and Interpreting

Concluding and Communicating

Cells undergoing meiosis can be preserved on microscope slides. Photography through the microscope allows study of the stages of meiosis and the comparison
of plant and animal material. Figure 5.18 illustrates
the events in hand-drawn pictures.

4.

Fill in the chart that you have produced with the


appropriate information. Use the information in the
booklet provided to describe the key events in
the microslide view. Take care to sketch the
chromosomes and their arrangement as accurately
as possible.

Problem

To identify stages in meiosis in plant and animal cells


using photomicrographs and prepared microscope
slides.

Compare what you have drawn to the illustrations


provided in Figure 5.18.

6.

Obtain one of the plant microslides from your


teacher. Observe each of the stages illustrated on
this microslide. Note any differences you see in the
process of meiosis or cytokinesis from comparable
stages you saw in the animal microslide. Add this
information to your chart.

Materials
 animal LAL1
meiosis and plant meiosis microslide and
microslide viewer
 microscope slides of spermatogenesis in grasshopper testes
 drawing materials

Part B Spermatogenesis in Grasshopper Testes


7.

Obtain a microscope and a microscope slide of


grasshopper testes that has cells undergoing meiosis.

Procedure

8.

Prepare a full-page chart similar to the one you prepared for Part A.

Part A Microslides of Animal and Plant Meiosis

9.

Examine your slide to find cells undergoing meiosis. Using high-power magnification, make drawings of cells in the eight stages of meiosis that you
identified in the microslide material used in Part A.

1.

Obtain one of the animal meiosis microslides and


a microslide viewer from your teacher.

2.

Read the introduction in the microslide booklet.


Observe each of the eight views provided on the
microslide strip. The photomicrographs in the microslide will help you to recognize the stages of
meiosis described in Figure 5.18.

3.

Produce a full-page chart in your notebook. Use the


headings indicated below.

1
2
3
4
5
6
7

11. Make a diagram of a tetrad with one chiasma. How


many recombinant gametes will result?

Analyzing and Interpreting

TABLE 5.9

Name of Stage
Shown

10. Observe chiasmata in cells in late prophase of meiosis I. Carefully draw one tetrad in which one
chiasma is visible and one tetrad in which several
chiasmata are visible. See Figure 5.17.

Description of Key
Events

Sketch of the Stage


Shown

1. Which of the stages in meiosis are easiest to identify in the microslide material and the grasshopper
material? Why?
2. What was the diploid number for the animal and
plant shown on the microslides, and for the
grasshopper? What was the haploid number for
each?
3. Meiosis differs in plant and animal cells. Highlight
the differences in the process of meiosis in the plant
cells and the animal cells that you observed.


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(continued)

Concluding and Communicating

crossing over occurs at the tetrad or four-strand


stage of meiosis.)

4. What is the relationship between the frequency of


crossing over (chiasma formation) and the number
of recombinant cells formed? (Hint: remember that

5. Are the cells at the end of the meiotic process ready


for fertilization? Explain.

Inquiry Skills

Investigation 2

(Section 5.2)

Illustrating Mistakes in Meiosis


In section 5.2, you read about several mistakes in the
meiotic process. The mistakes may result in abnormal
numbers of chromosomes in the gametes or in gametes
with chromosomes that have abnormal structures.
Abnormal structures may include duplication, deletion,
and rearrangement of genetic material. Fertilization of
these gametes may result in genetic defects. In this exercise, you will investigate abnormalities of number
and structure. You will produce illustrations of these
mistakes in meiosis using materials of your choice.

Initiating and Planning

Applying Technical Skills

Using Tools, Material, Equipment

Conducting and Recording

Analyzing and Interpreting

Concluding and Communicating

3.

For the purposes of your model assume that the organisms sex is to be determined the way it is in
humans, with X and Y chromosomes. Choose a low
diploid number for the species and chromosome
sizes and centromere positions to simplify the modelling process.

4.

Consider any other aspects of meiosis important to


your model. Have the teacher approve your design
before you begin your model.

5.

Clearly describe the abnormality in the sex cells


that are formed when each of the mistakes occurs.

Problem
How can you illustrate mistakes in meiosis? How can
you determine whether an abnormality will result after
fertilization involving these gametes?

Experimental Design

148

1.

Identify the mistake in crossing over and the mistake in segregation of the chromosomes that you
wish to illustrate.

2.

Design a method of illustrating these errors in


meiosis. Choose any materials that you feel will
allow you to show the process effectively. Your final
product will be posted on a bulletin board for display. Write a list of materials required.

UNIT 2

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Analzying and Interpreting


1. What abnormalities in number and/or structure resulted in your investigation?
2. Is it possible that either of the mistakes that you illustrated may not lead to a genetic defect? Explain.

Concluding and Communicating


3. Briefly explain how you distinguished between
a) the different homologous pairs b) maternal and
paternal chromosomes.
4. Explain why you chose the materials that you used
in your model.

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C H A P T E R S U M M A RY
Key Terms
adaptation
anaphase
aneuploidy
asexual reproduction
asters
cancer
cell cycle
cell plate
centromere
chiasmata
chromatid
chromatin
chromosome number

clone
crossing over
cytokinesis
daughter cells
deletion
diploid, 2n
DNA
duplication
fertilization
gametes
gene
genetic continuity
genetic recombination

haploid n
homologs
interphase
inversion
locus
meiosis
metaphase
mitosis
monosomy
nondisjunction
oogonia
polar bodies
polyploidy

polysomy
prophase
reduction division
replication
sexual reproduction
spermatogonia
S phase
synapsis
telophase
tetrad
translocation
zygote

Essential Understandings
5.1 Mitosis


Mitosis ensures genetic continuity from cell to cell


within an organism, for growth, repair, and development.

Mitosis is subdivided into four stages: prophase,


metaphase, anaphase, and telophase.

Mitosis produces two diploid cells that are geneticaly identical.

Meiosis is necessary to produce haploid gametes for


sexual reproduction and to ensure that the chromosome number of a species is maintained.

Meiosis is characterized by two nuclear divisions,


called the first and second meiotic divisions.

The first meiotic division is called reduction division


because this part of meiosis reduces the number
of chromosomes in the sex cells by half.

In humans, the net outcome of the meiotic process


is four haploid sperm cells in the male and one haploid ovum in the female.

If nondisjunction occurs during meiosis, sex cells


with an abnormal number of chromosomes may be
produced.

5.3 Sexual Versus Asexual Reproduction

5.2 Meiosis


Asexual reproduction ensures genetic continuity


from one generation to the next.

Asexual reproduction produces offspring genetically


identical to the parent.

Binary fission, budding, fragmentation, and


vegetative propagation are means of asexual
reproduction.

Sexual reproduction produces offspring that show


variation relative to the parents and to each other.
This variation may help the species adapt in an
environment that is changing.

Consolidate Your Understanding


1.

Revisit your T-chart from the Checkpoint on page 119.


Revise your work based on what you learned in this
chapter.

2.

Create a concept map to summarize the main concepts


in the chapter. Use the Key Terms for this map.

3.

Evaluate how society is affected by the evolution of scientific knowledge.

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CHAPTER 5 REVIEW
Understanding Concepts
1. The
a)
b)
c)
d)

5. A tetrad is made up of:


a) two chromatids from one chromosome
b) one chromatid from two homologous chromosomes
c) four chromatids from two homologous chromosomes
d) one chromatid from one chromosome

second meiotic division:


is identical to the first meiotic division
is similar to mitosis
is called reduction division
produces 2 diploid cells

6. At which point in the cell cycle does replication of the


genetic information occur? Why is this process so
important?

2. An organism with a diploid number of 32 would produce gametes with ____ chromosomes.
a) 16
b) 32
c) 64
d) a variable number of

7. Describe the number and type of cells that result from


meiosis.
8. Explain why the first meiotic division is referred to as
reduction division. Support your answer with an
example.

3. In a changing environment, a sexually reproducing organism may gain an advantage because:


a) it can produce many identical offspring
b) it reproduces very rapidly
c) its offspring show variation and may be adaptable
d) its offspring contain the same genetic information
as the parents

9. What effect do crossing over and linkage have on the


genetic variation of the offspring?
10. Outline the sequence of events in the cell cycle.
11. Describe the different types of genetic defects that can
result from nondisjunction during meiosis.

4. Uncontrolled cell division is a characteristic of:


a) cancer
b) mitosis
c) cytokinesis
d) meiosis

Organism

cotton
fruit fly

Diploid
Number

Haploid Number of
Number Chromosomes
in Daughter Cells
of Mitosis

Number of
Chromosomes
in Meiosis at
Prophase I

Number of
Chromosomes
in Meiosis at
Telophase I

Number of
Chromosomes
in Meiosis at
Telophase II

4
64

toad

18

chicken

78

goldfish

UNIT 2

Number of Pairs
of Homologous
Chromosomes

52

horse

150

12. Copy the following table and then complete it to show


the number of chromosomes present at different stages
of cell division in a variety of organisms.

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13. Draw a cell in the following phases of mitosis or meiosis. Clearly indicate the number of chromosomes and
chromatids present.
a) metaphase of mitosis for a cell with 2n = 6
b) anaphase of meiosis II for a cell with 2n = 8
c) telophase of meiosis I for a cell with 2n = 6
14. Explain why an organism would gain an advantage if it
could reproduce both sexually and asexually.
15. Produce a concept map entitled The Human Life Cycle
relating the roles of mitosis, meiosis, cell differentiation,
diploid number, haploid number, fertilization, sexual reproduction, gametes, and genetic continuity.
16. Look at the dividing cells in Figure 5.28
a) Is the organism an animal or a plant? Explain your
answer.
b) Identify the stage of division in cell A.
c) Identify the stage of division in cell B.
d) Identify the stage of division in cell C.

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18. Suppose that during meiosis I, the paternal chromosomes


always went to one pole and the maternal chromosomes
always went to the other. How would this affect the
genetic variability of the offspring? Would children tend
to look more like the parents? Explain.
19. Following fertilization in multicellular organisms, a
zygote divides rapidly by mitosis in a process called
cleavage. If this were the only process to occur in
development, the distinctive characteristics of each
species would never develop. The developing embryo
must also undergo differentiation. Research an explanation of how cells are directed to follow the various
routes of differentiation. Present your research in a written report that includes flowcharts and diagrams.
20. What would happen if the human zygote received any
23 chromosomes from each parent rather than one of
each homologous pair?

Making Connections
A
B

21. An increased risk of contracting cancer has been linked


to both hereditary and environmental factors. List the
environmental factors that are thought to increase a persons risk. Which of these factors can be reduced by a
change in lifestyle? Which cant? Where could you obtain information about each environmental factor that
you have listed? How does society deal differently with
the hereditary aspect of cancer risk?
22. Statistics show that approximately one in six couples in
North America have difficulty in conceiving and/or carrying a child to term. State several reasons for this high
incidence of infertility in society today. What methods are
available today to help these couples have children?

FIGURE 5.28

Applying Inquiry/
Communication Skills
17. The oxygen-carrying red blood cells in our bodies are
replaced approximately every 120 days. New cells are
produced in the red bone marrow by mitosis. Calculate
how many red blood cells are produced each day. Blood
contains about 5 million red blood cells per
cubic millimetre and an average person has about 5 L
(5000 cm3) of blood in their body. To calculate this value,
determine the number of red blood cells in the body and
assume that this number would be totally replaced over
a 120-day span.

23. The incidence of lung cancer in North America has risen


significantly since the 1930s. In the 1930s and 1940s
there were many causes suspected for this increase. At
the time, there was a notion that smoking may be responsible for the increase. Science, however, is not based
on notions. How did science ultimately clarify the link
between smoking and an increased incidence of cancer?
(Note: Today the area of science investigating possible
links like this is called epidemiology.)
24. Why is knowledge of asexual and sexual reproduction
so important to scientists working in the fields of agriculture and horticulture today?
25. Asexual reproduction methods produce clones of the parent organism. A knowledge of these methods has existed
for many years. Why is the topic of cloning much more
controversial today than it was 20 years ago?

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CHAPTER 6
SPECIFIC
EXPECTATIONS

Genetics and Heredity

By the end of this chapter,


you will be able to:


describe and explain the process of


discovery that led Mendel to
formulate his laws of heredity (6.1)

explain, using Mendelian genetics,


the concepts of dominance,
co-dominance, incomplete
dominance, recessiveness, and
linkage (6.1, 6.2, 6.3)

solve basic genetic problems


involving monohybrid crosses,
incomplete dominance,
co-dominance, dihybrid crosses,
using the Punnett square method
(6.2, 6.3)

explain how the concepts of


chromosomes and meiosis account
for the transmission of hereditary
characteristics (6.2)

predict the outcome of various


genetic crosses (6.2)

compile qualitative and


quantitative data from a laboratory
investigation on monohybrid and
dihybrid crosses, and present the
results. (Investigation 1,
Investigation 2)

summarize the main scientific


discoveries of the nineteenth and
twentieth centuries that led to the
modern concept of the gene. (6.1,
6.2, 6.3)

ikeness between human parents and offspring has intrigued scientists and
physicians through the ages. Descriptions of many physical characteristics, which we now know to be inherited, have been documented for thousands of years. However, these descriptions were almost always given without
any insight into how the characteristics were inherited. For example, ancient

FIGURE 6.1 A Inheritance of physical characteristics is obvious in parents and their offspring.

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Egyptians made statues of very short individuals with short extremities and
unusually shaped skulls, which we now recognize as the characteristics of an
inherited disorder called achondroplasia. These statues preceded descriptions of this disorder in scientific literature by some 3000 years.
The tendency for a defect to recur within families went apparently unnoticed for generations. One wide-spread explanation of malformations in a
newborn was the idea of maternal impressions. If the mother saw some
ugly or frightening sight during her pregnancy, it might influence the development of her unborn baby. For this reason, many mothers in ancient Greece
spent their time gazing at beautiful statues around the city, hoping that the
features of their unborn infants would be as attractive.
Probably the earliest inkling that diseases could be inherited through families is recorded in ancient Hebrew writings, where it was stated that brothers and male cousins of boys with bleeding disorders were not to be
circumcised. Obviously, some implications about the inheritance of hemophilia
were recognized.
It is only in the last 50 years or so that we have truly understood how
these family traits are passed from generation to generation. The explanation of this transmission of traits is the basis of the branch of science called
genetics, the study of heredity. When Gregor Mendel outlined his nowfamous laws of heredity in the 1800s, he had no knowledge of chromosomes
and the process of meiosis. Today, knowledge of the process of meiosis is key
to our understanding of the inheritance of traits. Mendels laws and the patterns he described can be used to explain inheritance through dominance,
co-dominance, incomplete dominance, recessiveness, and X-linkage. They
also explain the patterns of inheritance of many human genetic disorders.

Discovering Biology
A Human Characteristic
Hold your thumb and hand in a position that you would use if you were hitchhiking. Note the shape of your thumb. If the last joint of your thumb bends
backwards you have inherited a hitchhikers thumb. If it does not bend
backwards then your thumb is described as being straight. Pool the data
for your whole class.


How many of your classmates are hitchhikers and how many are
straight? The inheritance pattern of this trait is explained by a simple
scheme of inheritance first outlined by Gregor Mendel in the 1860s.
Although the inheritance of many traits in humans is complex, numerous traits can be explained using Mendels patterns of inheritance.
If you were to study seven of these types of traits in your classmates,
where each student is described in one of two ways for each trait, how
many different combinations of traits would exist for the seven traits that
you study?
Would you expect any two of your classmates to possess the same combination of traits for the seven studied? Explain your answer.

CHECKPOINT
Scientific discovery is a
process that follows a
particular methodthe
scientific method. In a
sequence diagram, show
the steps involved in
researching a hypothesis.
Researching a
Hypothesis

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6.1 The Origins of Genetics


Key Understandings

When you have completed this section, you will be able to:
 explain why Mendels attempts to explain inheritance patterns were successful
 describe the steps in Mendels work
 use correct terminology to explain dominance, recessiveness and Mendels laws of
inheritance

Many early attempts to explain patterns


of inheritance suggested that traits were
determined by the blending of information received from both parents.
Today geneticists know that this is not
the case. Hereditary information is
passed from generation to generation in
distinct packets called genes. It is possible that some genes may not be expressed for several generations but
remain intact as distinct units that can
then appear as their information is expressed in future generations.
In the seventeenth and eighteenth
centuries, controlled experiments delving
into inheritance patterns were restricted
or frowned upon by the general population and in particular by religious groups.
The use of quick breeding and prolific an-

Image omitted due to copyright restrictions.

FIGURE 6.2 Every organism inherits certain traits from its parents. What traits do
you think the baby moose inherited from its mother?

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imals such as rats and mice was not acceptable: that would be breeding vermin!
What about plants? Their pollination
could be controlled easily, but no one used
plants for scientific purposes before 1750.
One of the major stumbling blocks was
that scientists of the time had to become
accustomed to the notion that plants had
sex! Religious naturalists who expected
to learn good morals from nature wrote
of their surprise in finding such an abundance of pollen grains (males) and so
few seed chambers (females). In spite of
a doubting society and religious restrictions, written accounts of inheritance
patterns started to appear more frequently in the 18th century.
In the 1800s there were numerous
attempts made to account for the transmission of specific traits from one generation to the next. One of the most
strongly supported explanations was that
there was some information in the blood
of both parents that was mixed at conception. Therefore offspring would be
expected to show some combination of
parental features. Although this belief
was eventually discounted, we still use
the term bloodline to indicate relationship between two individuals. This
concept was not based on careful scientific observation and experiment.
Although our knowledge of inheritance patterns has expanded rapidly in
the last 200 years, a great deal of debate
still exists when people consider explanations of heredity. Differing opinions
also exist when society considers the
ethics of the many possible applications
of genetic knowledge.

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Mendels Success
It is believed that the first scientific attempt to explain the scheme of inheritance was made in the middle of the
nineteenth century by a Moravian monk
named Gregor Mendel. Mendel spent
several years at the University of Vienna
studying science in order to become a
high school teacher. He eventually returned to a monastery in what is now
the Czech Republic, where he performed
his famous experiments in genetics.
Mendels success in demonstrating
the basis of heredity is not surprising.
He was armed with some of the most advanced scientific and mathematical
knowledge of the day. He knew that duplicating his experimental crosses thousands of times would lend validity to his
results and his explanations as well.
Mendels applications of mathematics,
and in particular of probability, were
rare in the field of science in the mid1800s. However, a consideration of probability strengthened his work. Although
Mendel observed crosses in mice, bees,

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and several plants, he centred his attention on the common pea plant, Pisum
sativum. Because the common pea plant
is normally self-pollinating, Mendel
found it easy to control the parental
crosses. (See Figure 6.4.) In addition,
this annual plant was easily grown and
matured quickly, producing many seeds.
In this way, many generations could be
studied over a relatively short period of
time. Most important was the fact that
pea plants show several pairs of obvious, contrasting traits. For example,
some plants grow tall while others are
dwarf plants and some have round,
smooth seeds while others have wrinkled seeds. These contrasting traits are
shown in Figure 6.5.

INFOBIT
Most of society in the 1860s
supported two notions about
inheritance. The blending
theory of inheritance
suggested that the seeds
that controlled hereditary traits
were blended together from
generation to generation.
Pangenesis suggested that
hereditary traits could be
modified throughout a persons
lifetime. If a person practised
a particular skill throughout his
or her lifetime then his or her
offspring would inherit the
improvement in this skill. The
work of Gregor Mendel would
eventually refute both of
these notions.

a) Stamens
removed from
purple flower

b) Pollen from
stamens of white
flower transferred with paint
bush to carpel of purple flower

Image omitted due to copyright


restrictions.
c) Seeds set and mature
as peas in the pod

d) Plant these peas


e) Examine F1
generation: all purple

FIGURE 6.3 Moravian monk and naturalist


Gregor Mendel is often referred to as the
Father of Genetics.

FIGURE 6.4 Mendel was able to control the crosses of different varieties of pea
plants by using an artists brush to transfer pollen (the male sex cell) from one plant
to the egg-bearing carpel of another plant. The seeds produced in this cross could
then be planted to observe the next generation.

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Character
Studied

Previous Section

Dominant Trait

Next Section

Recessive Trait

Stem Length

Tall

Dwarf

Seed Shape

Smooth

Wrinkled

Seed Color

Yellow

Green

Inflated

Wrinkled

Green

Yellow

Flower
Color

Purple

White

Flower
Position

On stem

At tip

Pod Shape

Pod Color

FIGURE 6.5 This chart illustrates the seven pea plant characteristics studied by
Mendel. Note that the two forms of each trait are easily distinguished from one
another.

Mendels Experiments
Mendel eventually identified and used the
seven pairs of contrasting traits shown
in Figure 6.5. Observable characteristics
or traits are called phenotypes. Mendel
spent several years self-pollinating the
pea plants in order to establish pure
lines or purebred plants. Tall plants
were repeatedly self-fertilized until
Mendel was sure that he had tall plants
that would yield only seeds that would
produce tall plants. The same process
was carried out with the dwarf plants.

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Plants that produced seeds that grew


into plants identical to the parent were
termed pure-breeding. Mendel also
chose among his pure breeding lines to
set up his crosses. He used lines that
had the same viability. This meant that
the different lines could be expected
to produce approximately the same
number of plants for every 100 seeds
planted. This was important for his
mathematical analysis of results.
Mendel understood the value of having controls in his experiments. For this
reason he began by studying crosses
between pure-breeding plants that were
different for only one contrasting pair
of traits. These parent plants were
called the parent generation or the
P generation. When crossing a pure tall
plant with a pure dwarf one, all the resulting plants were called hybrids. All
of the hybrids in this first filial
(offspring) generation, called the
F1 generation, were tall. There was not
one dwarf plant in the F1 generation.
(See Figure 6.6.)
The same pattern was observed in
the crosses involving the other contrasting characteristics. For example,
when purebred plants with round seeds
were crossed with purebred plants with
wrinkled seeds, only round-seeded
plants resulted in the F 1 . Although
Mendel wasnt surprised by these results, other researchers in the 1800s
would have predicted that the F1 generation would display an intermediate
phenotype such as medium height. Since
the traits of tallness and round seeds
seemed to dominate the traits of dwarfness and wrinkled seeds, Mendel called
them the dominant traits. The trait that
was not expressed in the F1, he called
the recessive trait. (See Figure 6.6.)
Next, Mendel crossed his F1 generation plants. He wished to determine if
the F1 tall plants were identical to the
P generation tall plants. If they were
identical, then an F1 cross would produce
only tall plants. Mendel found that the
resulting F2 generation (second filial
generation) yielded about three tall

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plants for each dwarf plant, a mathematical ratio of 3:1. This meant that the
hybrid tall plants were somehow different from the purebred tall plants. (See
Figure 6.6.) Mendel carefully repeated this
experiment for each of the other six pairs
of contrasting traits. In every case the results were similar. The F2 generation displayed a phenotypic ratio very close to
3:1. For each of the seven traits studied,
3/4 of the F2 generation exhibited the
dominant trait and 1/4 exhibited the recessive trait. His findings are summarized
in Table 6.1. The average ratio for all of
the traits in the F2 generation was 3:1.

Mendels Law of Segregation


Mendel observed a very obvious pattern
in his experimental results. He now attempted to account for this pattern by
describing a mechanism of inheritance.
He suggested that units of inheritance,
which he called factors, were involved.
We now call these factors genes. For any
given characteristic, there were several
different forms of these genes. These different forms are now called alleles. For
example, the gene for plant height has
two different alleles, a dominant tall
allele and a recessive dwarf allele.
Mendel could not account for his results
if each plant had only one factor that determined its phenotype. He suggested
that each plants phenotype was determined by a pair of alleles that could be
identical or different. Once Mendel established this key idea, he was able to
make generalizations about heredity.
From his numerical results, he saw
that one allele of a pair has the ability
to express itself while the second one
is not expressed. The allele expressed in
the F 1 is dominant, the allele not expressed in the F1 is recessive. If a pea
plant possesses one of each of the alleles for height, it will be tall. The only way
for a plant to develop as a dwarf plant is
if both of its alleles are the recessive type.
Mendel suggested that when sex
cells or gametes are produced, the members of each pair of alleles segregate or

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TABLE 6.1 Results of Mendels Crosses.

Characteristic

Dominant
Trait

Recessive
Trait

F2 generation
Dominant:
Recessive

Mathematical
Ratio

Flower colour

purple

white

705:224

3.15:1

Flower position

on stem-axial

at tip-terminal

651:207

3.14:1

Seed colour

yellow

green

6022:2001

3.01:1

Seed shape

smooth/round

wrinkled

5474:1850

2.96:1

Pod shape

inflated

wrinkled

882:299

2.95:1

Pod colour

green

yellow

428:152

2.82:1

Stem length

tall

dwarf

787:277

2.84:1

separate into different reproductive cells.


A gamete could contain an allele for tallness or an allele for dwarfness, but not
both. When fertilization occurs, these alleles unite to give the zygote the necessary pair of alleles.
Mendels Law of Segregation: members of a pair of alleles for a given trait
are segregated (separated) when gametes are formed.
So far we have only referred to the
observable traits in pea plants, the phenotypes. Once Mendel had formulated the
law of segregation he was able to describe
the gene makeup, or genotype, of a plant
or a gamete. Mendel used letters of the
alphabet to represent genes. Capital letters represent the dominant allele and
lower case letters represent the recessive
allele. For example, the allele for tallness
would typically be represented by T and
the dwarf allele by t.
We can now describe Mendels
experiments genotypically. Purebred tall
plants would be represented by TT and
purebred dwarf plants by tt. Genotypes
with identical alleles are called
homozygous. When segregation occurs in these P generation plants, the sex
cells of the TT plants would contain only
one dominant allele
while those of
the tt plants would contain only one
recessive allele,
. After fertilization
CHAPTER 6

INFOBIT
Inheritance in animals as well
as plants can be explained
by the principles discovered
by Mendel. The first
demonstration of this came in
1902 from William Batesons
experiments with chickens.
Bateson was the first person
to use the term genetics.

WORDORIGIN
Genotype from the Greek,
genos meaning race or kind
and tupos meaning model or
pattern
Phenotype from the Greek
phainein meaning to show
or to appear and tupos
meaning model or pattern

Genetics and Heredity

157

Contents

Generation

Previous Section

Genotypes

Next Section

Phenotypes

Parental
P Cross
tall  dwarf
both purebred

TT

tt

homozygous  homozygous

tall

Gametes
formed

all t

all T

dwarf

Tt
F1

F1 all tall hybrids

heterozygous

Dominance is
operating.
Tt

F1 Cross
Gametes
formed

F1 Cross a monohybrid cross

Tt

Law of Segregation in effect

TT
Tt
Tt
tt
homo- hetero- hetero- homozygous zygous zygous zygous

F2

3/4 tall
Ratio in F2

Genotypic ratio of 1 : 2 : 1
1TT : 2 Tt : 1 tt

1/4 dwarf

Phenotypic ratio of 3 : 1
3 tall : 1 dwarf

FIGURE 6.6 A summary of Mendels cross involving tall and dwarf pea plants. T
represents the tall allele and t the dwarf allele.

Investigation
Refer to page 182,
Investigation 2

158

UNIT 2

occurs, we can see that there is only one


F1 combination possible, Tt. This nicely
accounts for the F1 generation all looking the same (tall). These hybrid plants
in the F1 generation that possess a genotype with different alleles are said to
be heterozygous. (See Figure 6.6.)

Genetic Continuity

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In the next generation, when two


heterozygous F1 plants are crossed in
what is termed a hybrid or monohybrid
cross, each F1 plant produces two types
of gametes,
and . This produces
different results from the original P generation cross. Figure 6.6 illustrates
theoretically why we would expect 3/4
of the F2 generation to appear tall and
1/4 dwarf, as Mendel observed. Thus the
expected phenotypic ratio resulting from
the F 1 cross is 3:1 (3 tall for every 1
dwarf) while the expected genotypic ratio
is 1:2:1 (1 homozygous tall: 2 heterozygous tall: 1 homozygous dwarf).

Mendels Law of Independent


Assortment
Once Mendel established that the pattern of dominance and segregation was
followed by all seven pairs of contrasting traits, he turned his attention to what
would happen if more than one pair of
characteristics were used in a cross. He
began with a P generation cross involving a dwarf plant with purebred
round seeds (ttRR) and a purebred tall
plant with wrinkled seeds (TTrr). As a
result of this series of experiments
Mendel outlined his second major law.
Law of Independent Assortment: When
two or more pairs of characteristics
are considered at one time, each pair
shows dominance and segregation
independently of the other.
In the P generation cross, each
parent plant can produce only one type
of gamete. The first plant produces
gametes with a genotype of
and
the second plant produces gametes with genotype of
. The only
genotype possible in the F1 generation
is TtRr (a dihybrid). All F1 generation
plants are tall with round seeds. Mendel
then crossbred two of these F1 plants in
what is termed a dihybrid cross,
TtRr  TtRr. His Law of Independent
Assortment would allow each parent
plant to produce four different gamete

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combinations,
,
,
and
.
When two F1 plants were crossed, 16 or
(4  4) combinations had to be considered. Mendel observed an F2 generation
with 9/16 of the plants tall with round
seeds (2 dominant traits), 3/16 tall with
wrinkled seeds (1 dominant and 1 recessive trait), 3/16 dwarf with round
seeds (1 recessive and 1 dominant trait),
and 1/16 dwarf with wrinkled seeds (2
recessive traits).
This ratio of F 2 phenotypes of
9:3:3:1 is found in all dihybrid crosses
that involve fully dominant and
recessive alleles. Figure 6.7 shows the
result for the dihybrid cross of smooth
yellow seeds with wrinkled green seeds.
Mendels laws are summarized in
Table 6.2.
Mendel first presented his findings
in 1865 to the Natural Science Society
and published his formal paper shortly
thereafter. It was ignored for the most
part because at that time few scientists
could grasp the mathematical reasoning
and implications of his research. It is interesting to note that at that time the
work of Charles Darwin in his On the
Origin of Species (published 1859) had
scientists looking at the importance of
gradual change and small differences instead of sharp discontinuities such as
those seen in Mendels tall and dwarf
peas. The significance of Mendels results was not realized until after 1900,
when independent experiments carried

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Investigation

P generation

Refer to page 180,


Investigation 1
smooth
yellow

wrinkled
green

WEBLINK

crosspollination
x

Do research on the Internet to


find out more about Mendel
and the history of genetics.
Complete a summary page of
the information that you locate.
Begin your research at:
www.pearsoned.ca/biology11.

F1 generation

100% smooth yellow


self-fertilization
F2 generation

315
9
smooth
yellow

101
108
32
3
:
3
:
1
wrinkled
smooth
yellow
green

wrinkled
green

FIGURE 6.7 In one dihybrid


cross, Mendel crossed plants
that had smooth yellow seeds
with plants that had green
wrinkled seeds. All the F1
plants had smooth yellow
seeds. When he crossed two
of these F1 plants in a dihybrid cross, the F2 generation
had phenotypes in the ratio
9:3:3:1.

out by three prominent scientists, Carl


Correns, Hugo de Vries, and Erich von
Tschermak led to the same conclusions
that Mendel had come to. Gregor Mendel
died without knowing that one day his
explanations would become the basis of
our understanding of genetics.

TABLE 6.2 Mendels Laws

Mendels Laws
Mendels First Law The Law of Segregation
During gamete formation two alleles of a gene pair segregate or separate from each other. A heterozygous plant that is Tt forms gametes that are
and
in equal numbers. The gametes are not
a blend of the two traits.
Mendels Second Law The Law of Independent Assortment
Segregation for different pairs of alleles occurs independently. A plant that is heterozygous for two
pairs of alleles, for example Tt Rr, can form four types of gametes:
,
,
and
.

CHAPTER 6

Genetics and Heredity

159

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Section 6.1 Review


Understanding Concepts
1. Describe an explanation of heredity
common in the 1800s that was not
based on proper scientific observation
and experiment.
2. Explain why Gregor Mendel was successful when others had failed in their
attempts to explain inheritance. List
five reasons for Mendels success.
3. What are purebred pea plants? How did
Mendel ensure that he had a purebred
pea plant?
4. Distinguish between the following pairs
of terms:
a)
dominant and recessive
b)
phenotype and genotype
c)
heterozygous and homozygous
5. What is a monohybrid cross? What
phenotypic and genotypic ratios result
from such a cross?
6. State the two laws formulated by
Gregor Mendel.

7.

What is a dihybrid cross? What


phenotypic and genotypic ratios result
from such a cross?

Applying Inquiry/
Communication Skills
8. Explain how Mendels Law of
Segregation is actually based on meiosis. Use diagrams to illustrate your
answer.
9. In a flow chart, outline the process of
experimentation used by Mendel.

Making Connections
10. Why do you think it was so difficult for
society of Mendels time to grasp and
accept his explanations of heredity?
11. If Mendels findings had been accepted
immediately, do you think that our
knowledge of genetics and genetic technologies would be more advanced
today? Outline several points to support your argument.

6.2 Genetic Analysis


Key Understandings

When you have completed this section, you will be able to:
 understand how Punnett squares can be used to illustrate Mendels findings
 construct Punnett squares to solve problems involving monohybrid and dihybrid crosses
 explain the importance of meiosis to the inheritance patterns outlined by Mendel

INFOBIT
The Punnett square approach
to genetic problems is named
for the geneticist Punnett who,
with his colleague Bateson,
investigated the genetics of
chickens in the early years of
the 20th century.

Punnett squares illustrate the possible


outcomes (offspring) of a particular
cross. They aid in understanding and
clarifying difficult concepts. Consider the
Punnett squares that follow as you read
the text material.

WORD ORIGIN
Allele, a shortened form of the
term allelomorph, from the
Greek allele meaning one another and morphe meaning
form

160

UNIT 2

Constructing
Punnett Squares
Mendels experiments began with a cross
between a purebred tall plant (TT) and
a purebred dwarf plant (tt). These

Genetic Continuity

parental genotypes are indicated on two


sides of the square. The possible genotypes of the gametes of each parent are
then placed on the exterior of the
squares as indicated. This number of different types of gametes possible from
each parent determines the dimensions
of the Punnett square. The 1  1 Punnett
square in Figure 6.8 is the simplest
Punnett possible. The possible combinations of gametes following fertilization
are shown within the grid of the Punnett.
In this cross because each parent

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produces only one type of gamete, all


members of the F1 generation have the
genotype Tt.

A 1 1 Punnett Square: The P generation


cross Consider the cross TT tt. The
steps to set up the Punnett square are:
1. Determine the parental genotypes
TT and tt.
2. Determine the genotypes of the gametes that are possible,
and
. Therefore a 1 1 Punnett is
required.
3. Fill in the interior and interpret the
genotype and phenotype of the next
generation.
tt

Gametes
t

TT

Gametes

Tt
Tall

FIGURE 6.8 A 1  1 Punnett square. All the


F1 plants will be Tt genotype and show the tall
phenotype.

A 2 2 Punnett Square: The F1 generation


cross If two F1 plants are considered in

a cross, a 2 2 Punnett square is


required.
Consider the cross Tt Tt. The steps
to set up the Punnett square are:
1. Determine the genotypes: both are
heterozygous tall parent plants, so
the genotype is Tt.
2. Determine possible genotypes of gametes. Two types are possible from
each parent,
or
. This determines that the Punnett is 2 2.
3. Fill in the genotypes and phenotypes
of the F2 generation and interpret.

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Tt
Gametes

Tt
Gametes

TT
Tall

Tt
Tall

Tt
Tall

tt
Dwarf

FIGURE 6.9 A 2  2 Punnett square


Phenotypic ratio (tall:dwarf) = 3 : 1
Genotypic ratio (TT:Tt:tt) = 1 : 2 : 1

The Sutton-Boveri
Hypothesis
The rediscovery of Mendels work
around the turn of the twentieth century,
together with cytological studies of meiosis, led scientists to the understanding
that the segregation of Mendels factors
mirrored the movement of chromosomes
in meiosis. Contributions by a number
of investigators resulted in the SuttonBoveri hypothesis of 1902. This
hypothesis suggested that genes were
carried on the chromosomes and that
segregation and independent assortment
of factors were the results of the physical process of meiosis. The members of
pairs of alleles segregate or separate independently of other pairs of alleles during gamete formation. The different
chromosome pairs also separate independently of each other during meiosis
due to the random orientation of the
tetrads on the spindle at metaphase of
meiosis I. Sutton and Boveris chromosome theory of heredity was a major
breakthrough because it pointed out the
physical basis for Mendels rules.
Experimental data in support of this
hypothesis came a few years later when
in 1910, T. H. Morgan demonstrated that
the inheritance of a particular trait of
eye colour in male fruit flies was associated with a particular chromosome.

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Genetics and Heredity

161

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Discovering Biology

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Colour in Corn Kernels

Each kernel in an ear of corn represents an offspring that resulted from a separate
fertilization. Working with a partner, count the number of purple and yellow
kernels on an ear of genetic corn. Mark row 1 with a coloured pin or thumbtack
and count along the rows in an orderly sequence.
 What ratio of purple to yellow kernels does your ear of corn have? Compare
your ratio with the ratios found by several other groups. Is there any agreement between the ratios?


Try to explain why your ear has more kernels of one colour and fewer of the
other. Compare your explanation with that of several other groups.

EXAMPLE 1
Single Trait Analysis
In humans, the ability to taste phenylthiocarbamide (PTC), T, is dominant to nontasting, t. Determine the expected genotypic and phenotypic ratios resulting from
a cross between a heterozygous taster and a non-taster.
Given: T is dominant to t. Therefore, a heterozygote is Tt and a non-taster is tt.
The parental genotypes are Tt and tt.
Required: The genotypic and phenotypic ratios expected in the offspring
Analysis:
The cross is Tt  tt
Produce a Punnett square of the offspring.
Solution:
T tasting

t non-tasting

parental genotypes Tt and tt

Tt produces 2 types of gametes

and

with a probability of 1/2 for each

tt produces only 1 type of gamete


Punnett Square
Tt
Gametes

PRACTICE PROBLEM
In humans, the allele A, for
pigment formation is dominant to the allele a, for inability to form pigment. aa
individuals are albino.
Determine the expected genotypic and phenotypic ratios
expected from a cross between two individuals heterozygous for this trait.

162

UNIT 2

Genetic Continuity

tt
Gametes

1/2

1/2

Tt

1/2

tt

1/2

Taster

Non-taster

Two types of genotypes and phenotypes result in the F1 generation.


Statement:
Genotypic ratio 1:1 (Tt : tt)
Phenotypic ratio 1:1 (tasters : non-tasters)

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The Chromosomal Basis


of Heredity
Gregor Mendel had no knowledge of the
process of meiosis upon which to base
his explanations. Instead, his explanations were based on extensive experimentation and observation and a
knowledge of probability. Mendel did not
realize that his Law of Segregation was
actually a reflection of the division of genetic information in the meiotic process
as homologous chromosomes separate
in the first meiotic division.
We now know that one of each of the
pairs of factors (genes) determining a
trait in the pea plant is located on each
chromosome of a homologous pair. Each
gene is found at a specific place or locus
on the chromosome. In this way, each
gamete can only contain one of the alleles of a gene for any given trait, because
each gamete contains only one of each
homologous pair of chromosomes.
If a pea plant with a Tt genotype
produced 400 gametes, meiosis would

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produce 200 with the T allele and 200


with the t allele. We can describe this in
terms of probability. Because half of the
gametes produced contain the T allele,
there is a probability of 1/2 that this gene
will be passed on by a Tt parent plant.
The results of gamete formation in a Tt
plant are illustrated in Figure 6.10. Pea
plants contain seven homologous pairs
of chromosomes, but only the pair carrying the gene for height is shown in
Figure 6.10.
Of the gametes produced, 1/2 carry
the allele T, 1/2 carry the allele t.
Many genetics problems can be
solved using a paper-and-pencil method
that follows a sound scientific approach.
Once you have clearly identified the
letter codes that you are going to use to
represent the different forms of genes,
you can develop a hypothesis, an educated guess, to explain the results observed. Then the data can be interpreted
in a Punnett square and inferences can
be drawn. Note the steps in reasoning
used in Example 2.

WEBLINK
For links to sites that show
examples of genetic analysis
using Punnett squares, go to
www.pearsoned.ca/biology11.

1/2

with T

1/2

with t

T
T
T

T
T
t

T
t

t
t
t
t

prophase I

anaphase I

metaphase II

gametes

FIGURE 6.10 The segregation of chromosomes and alleles. The gametes formed during
meiosis in a Tt plant will either contain T (probability of 1/ 2) or t (probability of 1/2 ). Notice
that each homologous chromosome has replicated and that pairing (synapsis) has occurred to
form the tetrad. The tetrad is made of two chromosomes each made up of two chromatids as
the chromosomes enter prophase 1.

CHAPTER 6

Genetics and Heredity

163

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EXAMPLE 2
Recognizing Hybrids
A geneticist crosses two parent plants that have the dominant trait of purple
flowers. When the resulting seeds are planted the geneticist observes that 145 of
the F1 plants have the recessive trait of yellow flowers and 430 of the F1 plants
have purple flowers. How can you explain these results? What are the genotypes
of the parent plants and the F1 plants?
Given: F (purple flowers) is dominant to f (yellow flowers). Both of the P1 plants
possess at least one F gene: F__ F__
Required: The genotypes of the parents and F1 plants
Analysis:
The key to this question is the appearance of the ff (yellow plants) in the F1.
Produce a Punnett square of the offspring.
Solution:
The appearance of the recessive trait in the phenotype of the F1 plants can only
occur if they are homozygous recessive (ff). This can only happen if both of the purple parent plants are heterozygous and each parent contributed the recessive
allele to these yellow plants. In addition, recognize that the ratio of purple plants
to yellow plants is approximately 3:1. This ratio indicates a monohybrid cross.
Ff
Gametes
F

1/2

1/2

1/4

1/2

FF 1/4

Ff

1/2

Ff

ff

Ff
Gametes

PRACTICE PROBLEM
In mice, G for grey coat colour
is dominant to g. The gg individuals are black. Two grey
mice are mated to produce
nine grey mice and two black
mice. Explain these results.

These observations are the result of a monohybrid cross. Both parents are
Ff. The 145 F1 plants with yellow flowers are homozygous recessive (ff) while
the 430 F1 plants with purple flowers are either heterozygous (Ff) or homozygous dominant (FF). You would expect 1/3 of the purple-flowered plants
to be homozygous dominant and 2/3 to be heterozygous. This prediction is
based on the Mendelian genotypic ratio of 1:2:1.

When Mendel made a dihybrid cross


involving two pea plants with the genotypes TtRr, he used his Law of
Independent Assortment to account for
the production of four different gametes,
UNIT 2

Genetic Continuity

1/4
(145 given)

Statement:

A 4 4 Punnett square for a dihybrid cross

164

1/4

,
,
, and
. This result is simply a reflection of how genetic material
that is carried on chromosomes separates in meiosis. As long as the genes for
plant height (T,t) and seed type (R,r) are
on different homologous pairs of

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Previous Section

chromosomes, gamete formation occurs


as illustrated in Figure 6.12.
The gametes formed by a TtRr plant
could contain
(probability of 1/4 ),
( probability of 1/4),
(probability
of 1/4) or
(probability of 1/4). The
combinations produced are determined
by the way the tetrads line up during
metaphase in meiosis I. Note that we
must consider two different outcomes
where each outcome has an equal chance
of occurring as shown in Figure 6.12.
The results of this dihybrid cross can
also be summarized in a Punnett square.
This Punnett square is illustrated in
Figure 6.11. The fractions included represent the probability or chance of the
formation of a particular gamete by a
parent plant or a particular genotype in
a plant in the next generation.
The 16 inside squares in the Punnett
square in Figure 6.11 represent the genotypes of the F2 generation for Mendels
dihybrid cross. If you consider each F2
individual phenotypically, then the expected phenotypes can be determined.

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TtRr
Gametes

TR

Tr

tR

tr

1/4

1/4

1/4

1/4

TR 1/4

TTRR

TTRr

TtRR

TtRr

1/16

1/16

1/16

1/16

Tr 1/4

TTRr

TTrr

TtRr

Ttrr

1/16

1/16

1/16

1/16

tR 1/4

TtRR

TtRr

ttRR

ttRr

1/16

1/16

1/16

1/16

tr 1/4

TtRr

Ttrr

ttRr

ttrr

1/16

1/16

1/16

1/16

TtRr
Gametes

FIGURE 6.11 A 4  4 Punnett square The expected phenotypes in the


F2 generation of a dihybrid cross are: 9/16 tall round plants
3/16 tall wrinkled plants
3/16 dwarf round plants
1/16 dwarf wrinkled plants

line of first
meiotic division

Next Section

gametes
produced
T

1/4

1/4

1/4

1/4

meiosis
t

t
r

R r

T
r

meiosis
t

t
R

CHAPTER 6

FIGURE 6.12 Segregation


of genes and random assortment of chromosomes in
meiosis in a dihybrid
organism.

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165

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The Test Cross

ttrr (dwarf, wrinkled)


Gametes

dividual, whose genotype is being tested,


to a recessive individual. The recessive
individual must be homozygous and so
can only produce one type of gamete.
To test one of his dihybrid tall, round
plants Mendel crossed it to a dwarf,
wrinkled plant. The dwarf, wrinkled
plant showed both recessive traits and
so its genotype was known to be ttrr. The
cross is TtRr  ttrr. The dihybrid can
produce four types of gamete while the
homozygous recessive produces only one
type, as shown in Figure 6.13.

The validity of any scientific theory is seen


through experiments based on that theory. Mendel was able to verify his prediction of independent assortment by the
use of test crosses, sometimes called back
crosses. A test cross is the cross of an in-

FIGURE 6.13 The Punnett


square for the test cross of
the recessive homozygous ttrr
to the dihybrid, TtRr

TtRr (tall, round)


Gametes
TR

Tr

tR

tr

1/4

1/4

1/4

1/4

TtRr

Ttrr

ttRr

ttrr

1/4 Tall,
Round

1/4 Tall,
Wrinkled

1/4 Dwarf,
Round

1/4 Dwarf,
Wrinkled

Quit

tr 1/4

The genotypic and phenotypic ratios


in the offspring of a test cross are
1:1:1:1.

EXAMPLE 3
Questions Involving More Than One Trait
In mice, grey coat colour, G, is dominant to white coat, g, and long tail, T, is
dominant to short, t. What fraction of F1 mice would you predict to have grey coats
and short tails when a male ggTt parent is crossed with a female GGtt parent?
Given: G is dominant to g. T is dominant to t. Therefore:
GG or Gg grey coat
g g white coat TT or Tt long tail

tt short tail

Required: The fraction of F1 mice expected to have grey coats and short tails;
that is, to be of genotypes GGtt or Ggtt

PRACTICE PROBLEM
In pea plants tall (T) is dominant to dwarf (t) and round
seeds (R) is dominant to wrinkled seeds (r). Use a Punnett
square to determine what
fraction of the offspring produced in each of the following
crosses you would expect to
be tall with wrinkled seeds.
a) TtRr  TtRr (This is a dihybrid cross! Use your
ratios.)
b) TtRr  ttrr
c) TtRr  TTRr
d) TtRr  Ttrr
e) TtRr  ttRr
f) TTrr  ttRR

166

UNIT 2

Genetic Continuity

Analysis:
The cross is ggTt  GGtt.
Produce a Punnett square.
Solution:
The ggTt parent produces two types of gametes

and

The GGtt parent produces only one type of gamete


The dimensions of the Punnett square are 2  1.
ggTt
Male gametes
gT
GGtt

Female Gt 1
gametes

1/2

gt

1/2

GgTt 1/2

Ggtt 1/2

Grey long

Grey short

Statement:
In the F1 mice that are produced, half of the mice will be expected to have
the genotype Ggtt and as a result, half of the F1 mice will exhibit the grey
coat and short tail phenotype combination.

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A knowledge of probability is important


in any analysis of genetic crosses.
Probability means the ratio of the number of times a desired event is expected
to occur to the total number of events.

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For example the probability of picking a


king from a deck of cards is 4/52 = 1/13.
This means that we expect to pick a king
from a deck of cards 1 in 13 times.

Section 6.2 Review


Understanding Concepts
1. How can Punnett squares be used to
illustrate Mendels findings?
2. How many different types of gametes
would each of the following parent
plants be capable of producing? List
the possible combinations.
a) TT
e) ttRr

b) Tt
c) TtRr
d) TTrr
f) TtRrSs (a trihybrid)

3. What determines the dimensions of a


Punnett square? State the dimensions
of a Punnett for:
a) a monohybrid cross
b) a dihybrid cross
c) a trihybrid cross
d) a cross: AaBbcc x aabbCc
4. Use diagrams to explain the relationship between independent assortment
of genes in a dihybrid cross and random assortment of chromosomes during meiosis, if the genes are carried on
different chromosomes.
5. How might family practitioners use
Punnett squares as a tool to explain
inheritance patterns to patients and patients families?

Applying Inquiry/
Communication Skills
6. The product rule of probability states
that the probability of a series of events
occurring simultaneously is the product of each of the individual probabilities. Use this rule to calculate the
probability of each of the following:
a) The probability of an AaBbCcDd
parent producing a gamete with the
genotype ABCD
b) The probability of an AabbccDd parent producing a gamete with the
genotype Abcd
7.

In humans, the ability to taste PTC, T,


is dominant to non-tasting, t.
Determine the expected genotypic and
phenotypic ratio resulting from a cross
between:

a) a homozygous taster and a nontaster


b) two heterozygous tasters
c) a heterozygous taster and a homozygous taster
8. In mice, grey coat colour, G, is dominant
to white coat, g, and long tail, T, is
dominant to short, t. The genes for the
two traits are located on different chromosomes. What fraction of F1 mice resulting from each of the following
crosses would you expect to have grey
coats and short tails?
a) Ggtt Ggtt
b) ggtt GGtt
c) GgTt GgTt
d) GgTt ggTt
9. For the A trait, A is dominant to a
and for the B trait, B is dominant to
b. The genes for the two traits are located on different chromosomes.
Construct a Punnett square to show the
results of a cross between parents with
genotypes Aabb (parent #1) and AaBb
(parent #2). Determine each of the following:
a) What fraction of the offspring is expected to have the same genotype
as parent #1?
b) What fraction of the offspring is expected to have the same phenotype
as parent #2?
c) What fraction of the offspring is expect to be dihybrid?
10. In a certain animal black fur (B) is
dominant to white fur (b). Two blackfurred animals produced 51 white furred and 147 black-furred offspring.
What were the probable genotypes of
the parents? What fraction of the blackfurred offspring would you expect to
be heterozygous? Why?

Making Connections
11. In your opinion, should all family practitioners have a general background in
genetics? Explain.

CHAPTER 6

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6.3 Genetics After Mendel


Key Understandings

When you have completed this section, you will be able to:
 describe incomplete dominance and co-dominance
 explain the inheritance of blood types in the ABO blood group system in humans
 explain what is meant by multifactorial inheritance
 outline the effects of linkage and crossing over on inheritance patterns
 solve problems involving incomplete dominance and co-dominance

Mendels laws of segregation and independent assortment established that the


two members of a gene pair separate in
the formation of the gametes and that
different gene pairs assort independently
of each other. These principles are still
the basis of our understanding of heredity. The Sutton-Boveri hypothesis that
genes are carried on chromosomes was
a physical explanation of Mendels rules.
It suggested a way to look for the material basis of heredity. The combination
of these approaches has led to the
modern concept of the gene.

Incomplete Dominance

RR
Red

rr
White
P
generation

Rr
100% pink

F1
generation

Mendel had used the concept of dominance to explain his results in pea plants
but he saw instances in nature where
strict dominance did not apply. In other
species of plants that he experimented egg
sperm
R
R
with, the patterns observed were distinctly different from those seen in the
pea, Pisum sativum. In one species of
r
r
RR
snapdragon, when he crossed whiteflowered plants with red-flowered plants,
the F1 plants that resulted were neither
Rr
Rr
red- nor white-flowered plants, as he
would have predicted. All of the F1 plants
were pink.
F2
Under dominance the dominant
generation
rr
allele can hide the expression of a recessive allele in the heterozygous condition. However, in the determination of
1
:
2
:
1
some traits, the different alleles of a gene
red
pink
white
may be expressed in the heterozygous
FIGURE 6.14 Incomplete dominance. Notice
condition to produce an intermediate
how the red and white phenotypes disappear in
phenotype. When neither gene is comthe F1 generation but reappear in the next
generation.
pletely dominant over the other, we say
168

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Genetic Continuity

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that there is incomplete dominance. One


of the clearest examples of incomplete
dominance is found in the colours of the
same snapdragon flowers that puzzled
Mendel.
Snapdragons are either red or white
in the homozygous conditions, RR and
rr. Neither colour dominates the other
when a pure red (RR) is crossed with a
pure white (rr). The F1 plants (Rr) show
an intermediate flower colour of pink.
In an RR plant, enough red pigment
protein is produced to give the flower a
red appearance but in the Rr plant there
is only sufficient red pigment produced
to make the flower appear pink.
On the surface it would appear that
the genetic information has been blended.
However, if we cross two of these F 1 ,
plants (Rr) this idea is disproved. In the
F 2 generation, white and red flowers
reappear. See Figure 6.14. The alleles for
red or white must remain as distinct
units. They came together in the F1 generation, but then were able to separate
in the F2 generation. The law of segregation operates. The ratio of flower
colours observed in the F2 is a familiar
Mendelian ratio that can be explained in
a Punnett square. If we breed two of the
pink plants from the F1 generation, we
observe a 1:2:1 phenotype ratio in the F2
generation: 1 red flower to 2 pink flowers to 1 white flower. The genotypic and
phenotypic ratios that result from this
cross are the same. We dont observe this
in cases where dominance is in effect.
Many traits in humans show incomplete
dominance. These include the inheritance
of most hair, skin, and eye colours.

Co-dominance
A slightly different form of inheritance is
observed in horses and shorthorn cattle where two alleles are expressed at the
same time. If one parent is homozygous red and the other homozygous
white, the offspring will be a pinkish
colour termed roan, a blend of red and
white. However, in this instance, each individual hair in the coat of the animal

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FIGURE 6.15 This close-up


of the roan coat found in
horses clearly shows that the
allele for red and the allele
for white have both been
expressed. Some hairs are
white while others are red.

Image omitted due to copyright


restrictions.

is either completely white or completely


red. The two alleles have been expressed
at the same time, a type of inheritance
termed co-dominance. In this condition,
neither allele dominates the expression
of the other. Capital letters with superscripts or simply capitals are often used
to represent genotypes when co-dominance is in effect. A roan calf (RW or
CRCW) results from crossing a white parent (WW or CWCW) with a red parent (RR
or CRCR). If we cross two roan cows, then
the phenotypic and genotypic ratios in
the next generation will both be 1:2:1.
Geneticists have identified that
human blood types in the ABO blood
group system show co-dominance. The
possible blood types in this system are
A, B, AB, and O. Your blood type in
this system is determined by a pair of
alleles. In this case, however, there are
three different alleles that may be found
at the locus on either of the homologous
chromosomes. When there are more
than two alleles possible for a given gene
(remember Mendel suggested that there
were two), the condition is termed
multiple allelism. Multiple alleleism results in a larger number of possible
genotypic combinations and a greater
variety of phenotypes. However the principle of segregation still operates.
In human blood types the alleles for
A (represented by IA) and B (represented
by I B ) are both co-dominant over the
allele for O (represented by i). Neither IA

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Knowledge of another blood


group system, the Rh system, is
critical in preventing a potentially life-threatening condition
in newborns called haemolytic
disease of the newborn (HDN).
This disease is more commonly
known as Rh disease. The late
Dr. Bruce Chown of the
University of Manitoba developed techniques for the diagnosis, treatment, and prevention of HDN. His work has
resulted in the prevention of
most Rh disease in Canada and
elsewhere in the world.

Next Section

nor IB can dominate the other. If a person has the genotype IAIB, then his or
her phenotype is blood type AB. The possible genotypes and corresponding phenotypes in the ABO blood group system
are listed in Table 6.3.
TABLE 6.3 Co-dominance and Multiple Allelism
in the ABO Blood Group System

Genotype

Phenotype

IAIA or IAi

Type A

IBIB or lBi

Type B

IAIB

Type AB

ii

Type 0

WEBLINK

Multifactorial Traits
In humans and other higher organisms,
most traits show a very wide range of
phenotypic expression. In large families,
characteristics such as height or hair
colour show a large number of different
phenotypes. Multiple allelism cannot
explain this wide range of variation. The
term multifactorial is used for traits
whose phenotypic expression is
controlled by genes found at many loci
(polygenic). The expression of a multifactorial trait is often influenced by other
contributing factors including the persons internal and external environments. Many multifactorial traits show
a continuous distribution of phenotypes
(for example, heights from 140 cm to
200 cm for the students in your school),

FIGURE 6.16 Graphs to


demonstrate phenotype expression in simple Mendelian
inheritance versus multifactorial inheritance.

a) Discontinuous distribution
of phenotypes occurs when
one pair of alleles showing
dominance is involved.
b) Continuous distribution of
phenotypes occurs in multifactorial inheritance.

170

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Genetic Continuity

while traits where only one pair of alleles is involved show discontinuous distribution (for example, tall or dwarf
peas, red, pink, or white flowers in snapdragons, or blood types in the ABO system).
A satisfactory genetic interpretation
of traits with a wide range of expression was in fact first suggested by
Mendel. In addition to his famous
experiments with peas, he performed
crosses between white and purple-red
flowering beans. The hybrids had flowers with less intense coloration than the
purple-red parent. In the second generation resulting from a hybrid cross,
Mendel did not find two phenotypes in
a simple 3:1 ratio. Instead he obtained
a whole series of different colours, ranging from white through pale violet to
purple-red. His tentative explanation was
that more than one pair of genes determined flower colour. Mendel realized
that other possible systems apart from
the complete dominance seen in pea
plants might exist. The hypothesis of
multifactorial inheritance was tested in
the early 1900s in an analysis of seed
pigmentation in wheat crosses. A multigenic model was perfected.

Gene Interactions and the


Effects of Environment
A more complete understanding of the
functions of our genes must include the
role of the environment. You have now
seen that in multifactorial traits several
genes can interact to produce what we

100

Percent phenotype in F2

Research to find examples of


nature/nurture studies that
have been carried out in the
last five years. Briefly outline
the purpose of each study,
the results, and the potential
applications of this information.
Begin your research at
www.pearsoned.ca/biology11.

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dominant
phenotype
75
50
recessive
phenotype
25
0

aa

AA or Aa
Distribution of phenotype

average
phenotype

Number of individuals

INFOBIT

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Distribution of phenotype

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perceive as a single characteristic. Some


genetics studies have identified alleles
that determine the same phenotype
under all external conditions. Other studies have shown that some alleles
produce different phenotypes under different external conditions. These external conditions are termed the
environment. The extent to which a
characteristic is determined by heredity
(nature) or by the environment (nurture)
is a fascinating question which has created a great deal of controversy in recent times. There is no question that the
environment is a key factor in many
multifactorial traits.
The role of the environment in determining some traits is quite obvious.
The genes for tallness will not be fully
expressed in a person who is deprived
of a properly balanced diet during the
growth years. Chemicals such as alcohol or medicines to prevent epileptic
seizures, if taken by a pregnant woman,

The Use of
Identical Twins

Identical twins are often studied to test


the competing effects of nature (genetics) and nurture (environment) on
phenotypic expression. Identical twins
usually result when a single fertilized egg separates into two distinct
embryos. The two children resulting
will have identical sets of chromosomes in their cells. These twins with
identical genotypes resemble each
other very closely. Any differences observed between identical twins are
due to the effects of their environment.
Such twins have become a valuable
source of information in assessing the
relative importance of heredity and

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may damage the developing brain of a


fetus and prevent the child from developing its intellectual potential.
Researchers have demonstrated that the
administration of a dietary supplement
of folic acid to women who have a family history of neural tube defects reduces
the incidence of these types of defects in
their offspring. In the absence of the required nutrients and energy, a plant will
not reach its potential size, regardless
of its genotype.
One of the most studied and debated
areas in nature/nurture involves a consideration of intelligence. Is intelligence
genetically determined or is it shaped by
the environment? Most experts have arrived at the conclusion that it is based
on contributions from both our genetic
make-up and environmental influences.
Geneticists realized that such a complex
trait must have a basis in the genetic
make-up of an individual. They define
heritability as the proportion of the total

the environment. Studies first carried


out in the 1930s have shown that
identical twins display a very close
correlation in height (differing by less
than 2 cm) even if they are reared
apart and in different environments.
This implies a heavy emphasis on the
genetic component in the expression
of this phenotype. On the other hand,
most comparisons involving intelligence tests in identical twins seem to
indicate that educational background
can make a significant difference.
Identical twins reared apart are much
more dissimilar (on I.Q. tests) than
identical twins reared together. These
types of studies were intensified in the
early 1980s when a large number of
identical twins who were separated at
birth (by adoption) were reunited and
subjected to extensive comparisons.
This study continues to provide valuable information on the roles of the
environment and heredity in determining phenotype expression.

INFOBIT
The fact that genes work
together in some complex
interaction is illustrated clearly
by the condition known as
tuberous sclerosis. Although
this is a single-gene defect,
people who suffer from this
disease develop benign
tumours in many areas of the
body including the brain, eyes,
heart, kidney and skin. They
are also characterized by their
epileptic seizures and
delayed development. This
non-functioning gene has
influenced the expression of
many other interrelated genes.
When one gene causes many
effects like this, the result is
termed pleiotropy.

Image omitted due to


copyright restrictions.

FIGURE 6.17 What could produce different phenotype expression in these identical twins?

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Genetics and Heredity

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variation in the phenotype that is due to


total variation in the genotype. It is not
surprising then that geneticists today are
looking for smart genes, genes that
somehow contribute to the intelligence
of an individual.
Robert Plomin, an intelligence researcher working out of the Institute of
Psychiatry in London, England, was the
first to publish evidence of smart genes
in 1998. His initial studies have raised
many ethical questions about how this
genetic information should be used.
Plomin compared I.Q. scores in twins
that had been raised in the same environment and twins that had been raised
apart. In addition, he compared I.Q.
scores in adopted children with those of
their biological parents and their adoptive parents.
He suspects that intelligence is a complex trait governed by hundreds of
genes. It is probably one of the most
heritable mental attributes known.
Plomin suggests that 50% of the differences among peoples I.Q. scores is a result of a difference in genetic makeup.
He has already identified three genetic
sites on chromosome 4 linked to high
I.Q. scores.

A Gene Today
Since the time of Mendel geneticists have
been working toward a definition of the
gene. Science progresses by defining
units, but these are helpful tools that
may be modified as more information
becomes available. In the 1940s Beadle
and Tatum suggested that one gene determines one enzyme. Today geneticists
know that a sequence of nucleotides on
the DNA may code for a protein chain
that may act as a structural component
of tissues, a regulatory chemical, or an
influence on other structural or regulatory proteins. The role of a protein may
be influenced by many factors in the environment. Many interactions within the
genome remain to be clarified.

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Thomas Hunt Morgan and


the Concept of Linkage
There are far more genes in a cell than
the total number of chromosomes. It is
estimated that humans possess somewhere between 27 000 and 40 000
genes on our 46 chromosomes in each
body cell. Thus each chromosome must
contain hundreds of different genes. The
genes that are located on the same chromosome tend to be inherited together.
When genes occur on the same chromosome we say that gene linkage is in
effect. When two different traits are
determined by genes that are linked, the
linked genes do not assort independently
in the way Mendel suggested in his Law
of Independent Assortment.
The Sutton-Boveri hypothesis that
genes (Mendels factors) were carried at
physical locations on the chromosomes
raised the possibility that some genes
would be located on the same chromosome. These genes would be linked together and tend to stay together during
meiosis. Thomas Hunt Morgan was one
of the more important geneticists of
the 1900s. His meticulous studies with
the common fruit fly, Drosophila
melanogaster began in 1904, and eventually won him the Nobel prize in 1934.
Morgan in 1911 considered a cross
between grey-bodied, normal-winged
flies heterozygous GgWw, for the two
dominant alleles, and black-bodied,
small-winged flies homozygous for the
recessive alleles, ggww. This is a test
cross so that the expected ratio of
phenotypes is 1:1:1:1. If the genes assorted independently, we would expect
the results shown in Figure 6.18.
Four different phenotypic combinations are possible in the flies resulting
from this cross. The expectation that the
four types will appear in equal numbers
assumes that the genes for body colour
and wing shape are on separate chromosomes and that during meiosis, random assortment takes place.

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Morgans results were significantly


different, as shown in Figure 6.18. The
majority of the F1 flies showed either
normal wings with grey bodies (41.5%)
or small wings with black bodies
(41.5%). The combinations of normal
wings with black bodies and small wings
with grey bodies each appeared in only
8.5% of the F1.
Morgan concluded that the genes for
body colour and wing type were somehow linked so that they could not assort
independently. He coined the term link-

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age groups to describe these packages


of genes that tended to be inherited together. Today we know that these linkage groups are simply chromosomes. In
any given species the number of linkage
groups is the same as the number of
pairs of homologous chromosomes.
Humans have 23 linkage groups. Gene
linkage reduces the number of sex cell
genotypes possible in a parent organism
and so reduces the variety of phenotypes
observed in the offspring of the next
generation.

GgWw
Gametes

ggww

Gametes

GW

gw

GgWw

Ggww

ggWw

ggww

1/4

1/4

1/4

1/4

Phenotype

grey, normal

grey, small wing

black, normal

black, small wing

Expected percent

25

25

25

25

1/4

Gw

1/4

gW

1/4

1/4

gw

if independent
Observed

41.5

8.5

8.5

FIGURE 6.18 Morgans


experiment showed linkage
and recombination between
genes for body colour and
wing length.

41.5

percent

chromosomes of parents

gametes possible
If A is linked with B
and a with b

A
B

A
B

a
b

a
b

A
B

A
B

a
b

a
b

A
b

A
b

a
B

a
B

meiosis

If A is linked with b
and a with B

A
b

A
b

a
B

a
B

only two types


of gametes
1/2
AB

1/2

ab

only two types


of gametes
1/2
Ab

meiosis
1/2

aB

CHAPTER 6

FIGURE 6.19 Linked genes


do not assort independently.

Genetics and Heredity

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chromosomes of parents

Aa

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four possible gamete types

a
meiosis

Bb

FIGURE 6.20 If crossing


over occurs during meiosis,
linked genes can be separated. This increases the variety of gene combinations
possible in the gametes.

Linkage with recombination

WEBLINK

Crossing Over Notice that linkage does

Research sites that show gene


maps for the human genome
or for some other organism.
Begin your research at:
www.pearsoned.ca/biology11

174

UNIT 2

If A is linked with B and a with b and the genes are


far enough apart that crossing-over is possible

not explain all of the results of Morgans


experiment. While 83% of the F1 flies
had gene combinations like one of the
parents, 17% of the F1 had new combinations that could not be accounted for
through linkage. Morgan and his associate Alfred Sturtevant proposed that
these new combinations, termed recombinants, were the result of a process called crossing over. In this process
they suggested that homologous chromosomes somehow exchanged genetic
information, producing recombinants
different from the original linkage
groups. We now know that during the
first meiotic division, when homologous
chromosomes line up in tetrads, the
homologs may exchange genetic information (see sections 5.2, 5.3). This
exchange will result in a greater variety
in the gene combinations of the gametes.
In the absence of crossing over, genes
on the same chromosome will always be
passed on as a unit, no matter how the
chromosomes assort in meiosis. Crossing
over between chromosomes allows the
breaking up of these linkage groups so
that new combinations can occur in
the gametes. Morgans results can now
be completely explained. The 17% of the
flies that were recombinant forms, grey,

Genetic Continuity

2 parental
gametes
A B and a b

2 recombinant
gametes
A b and a B

small wing and black, normal wing were


the result of crossover events.

Gene Mapping
Sturtevant extended his studies of fruit
flies to create gene maps that identified
the location of genes on specific chromosomes. He reasoned that genes at opposite ends of a chromosome are more
likely to be separated by crossing over
than genes that are located close together. The farther apart two linked
genes are, the greater the chance of a
crossover. The frequency with which certain genes turned up together in the fruit
flies enabled Sturtevant to determine the
extent to which these genes were linked.
If two traits always appeared together,
he assumed that these genes were on
the same chromosome and very close together. If these two traits appeared together in 90% of the fruit flies, it would
suggest that although the two genes
were linked, some crossing over had
taken place between them, allowing recombinants to appear 10% of the time.
In 1915, Sturtevant who was a
university student at the time produced
the first gene map outlining the location
of 85 genes on the chromosomes of the
fruit fly. By studying linkage and

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crossover frequencies, geneticists today


have been able to produce maps of chromosomes showing the approximate location and order of genes. These genetic
maps have been produced in detail for
numerous organisms including the common fruit fly (Figure 6.21) and humans.

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Drosophila chromosomes I-IV

III

II

IV

Gene Mapping in Humans


Mapping of genetic characteristics in humans requires a technique different from
the recombination maps of the early geneticists. It is not possible to make experimental crosses in humans. Until the
time that biochemical methods of recognizing particular genes became possible, information was obtained from the
study of pedigrees in families who
showed some recognizable trait.
Sometimes a biochemical characteristic
appeared to be linked to a gene for a
particular genetic disorder. The biochemical characteristic was then used
as a marker in the diagnosis of families
at risk for the disorder.
With the improvements in molecular biological techniques of gene isolation and sequencing, mapping of the
human genome became possible. The
Human Genome Project (See Chapter 7)
began in 1990. The goal of the project
is a complete cataloguing of our entire
genetic makeup. This huge endeavour,
involving hundreds of scientists in labs
around the world, will involve the sequencing of perhaps as many as 35 000
genes. In February 2001, scientists announced that the total number of genes
in the human genome was many fewer
than had previously been believed:
30 000 to 35 000 rather than close to
100 000.
Researchers suggest that a
better understanding of the human
genetic code will allow scientists to
pinpoint defective genes easily. The
knowledge gained could be useful in
developing effective cures. In fact, some
researchers say that the Genome Project
may ultimately make it possible to
perform genetic surgery to replace

WILD TYPE

MAP UNITS

MUTANT

0
long
aristae

short
aristae

13
long
wings

long
legs

grey
body
red
eyes
full
wings

short
wings

31

48.5
54.5

67

short
legs

black
body
purple
eyes
miniature
wings

75.5
straight
wings

curved
wings

FIGURE 6.21 A genetic map of a chromosome. The map units reflect the frequency of recombination between genes not the physical distance between them.

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defective genes in an adult or even in a


developing fetus in the womb.
Since Mendel first studied his pea
plants in 1856, many scientists have contributed to our understanding and explanations of patterns of inheritance.
Their work led to the modern concept
of the gene. Some of the key contributions
are outlined in Table 6.4.

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Geneticists will soon know the loci of


all human genes on the chromosomes
but they will still use crossover frequencies to determine the sequence of linked
genes in other plant and animal species.
Example 4 on page 177 shows how this
information is used.

TABLE 6.4 The History of Genetics

Year

Scientist(s)

Contribution to the Field of Genetics

1856-63

Gregor Mendel

carried out his famous experiments with pea plants

1866

Gregor Mendel

published his work on the principles of genetics

1871

Fredrich Miescher

isolated a substance from the nucleus that he called nuclein (now known as DNA)

1900

Hugo de Vries, Carl Correns,


Erich von Tschermak

independently found the same patterns of inheritance described by Mendel

1902

Walter Sutton, Theodor Boveri

proposed the chromosome theory of heredity

1910

Thomas Hunt Morgan

identified the first X-linked gene in fruit flies, where a trait was linked to the sex of the fly;
experimental support for the chromosomal theory of heredity

1911

Thomas Hunt Morgan

described gene linkage where the genes for different traits were on the same
chromosome

1913

Alfred Sturtevant

outlined a technique for determining gene maps

1928

Frederick Griffith

described a substance responsible for giving bateria new hereditary information; called
this agent the transforming principle

1931

Harriet Creighton,
Barbara McClintock

demonstrated that genetic recombination reflects exchange of chromosome segments;


the first cytological demonstration of the chromosome theory of heredity

1944

Oswald Avery

showed Griffiths transforming principle was DNA

1951

Barbara McClintock

described transposition, the first demonstration that a gene could move through the
genome; the forerunner of the concept of transposons

1953

Rosalind Franklin

obtained X-ray diffraction patterns of DNA modules

1953

James Watson, Francis Crick

described a double-helix model for the structure of DNA

1989

Lap Chee Tsui and associates

discovered the genetic site for gene for cystic fibrosis , a fatal autosomal recessive condition

1990

James Watson, many other


scientists

started the Human Genome Project in an effort to map and sequence the entire human
genome

1996

International research group

published the first complete description of DNA sequence in an organism a species


of yeast

2001

The International Human Genome


Mapping Consortium

published the initial sequencing of the human genome

176

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Genetic Continuity

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EXAMPLE 4
A Mapping Problem
Genes A, B, C, D, E, and F are known to be linked. The following information has
been determined experimentally. What is the sequence of the genes on the chromosome?
B crosses over with A 20% of the time
A crosses over with F 10% of the time
F crosses over with C 15% of the time
B crosses over with D 15% of the time
C crosses over with E 35% of the time
E crosses over with F 20% of the time
C crosses over with B 25% of the time
D is at one extreme end of the chromosome
Given: A combination of crossover frequencies for the six linked genes.
Required: To identify the correct sequence of the six linked genes. Because D is
at one extreme end of the chromosome the final answer will be in the form
D __ __ __ __ __ with the letters A, B, C, E and F being placed in the blanks in the
appropriate sequence.
Analysis: The solution is based on the relationship between crossover frequencies
and linkage. The larger the crossover frequency, the more crossovers occur and
the further apart the linked genes must be.
Solution:
Construct a horizontal line that will represent the length of the chromosome where
these six linked genes are found. Measure off equal units starting with 0 at one end
(0, 5, 10, 15, 20, 25 ) and up to 55 or 60 at the other end. Place D at 0; its
location has been identified at one extreme end.
D
0

10

15

20

25

30

35

40

45

50

55

60

Let the crossover frequencies represent a distance on your number line. Start with
genes that can be placed easily on the number line. For example B crosses over
with D 15% of the time. This information places B at 15 on the number line. As
you satisfy each piece of information about crossover frequencies, put a tick mark
beside it. B crosses over with A 20% of the time. This means that A must be placed
at 35 on the line because there is no room to the left on the line. In the same
manner, C must be at 40 on the number line. At this point your line looks like this.
D
0

B
5

10

15

20

25

30

35

40

45

50

55

60

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The placement of genes F and E is a little more difficult. A crosses over with F 10%
of the time. This means that F could be at 25 or at 45. Write F at both of these locations below the line.
D

10

15

20

25

30

35

40

45

50

55

60

F crosses over with C 15% of the time. In order to satisfy this piece of information
F must be located at 25 on the number line. Your line now looks like this.
D

10

15

F
20

25

30

35

40

45

50

55

60

In a similar fashion, E crosses over with F 20% of the time. This means that E could
be at 5 or at 45. Write E at both of these locations below the line.

10

15

F
20

25

30

35

40

PRACTICE PROBLEM
Genes A, B, C, D, E and F are
known to be linked. The following information has been
determined experimentally.
What is the sequence of the
genes on the chromosome?
A crosses over with B 10% of
the time
B crosses over with C 20% of
the time
D crosses over with C 10% of
the time
F crosses over with D 15% of
the time
F crosses over with E 10% of
the time
E crosses over with B 15% of
the time
A crosses over with E 25% of
the time
A is at one extreme end of the
chromosome

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Genetic Continuity

45

50

55

60

However, note that C crosses over with E 35% of the time. In order to satisfy
this piece of information, E must be located at 5 on the number line. Your
line now looks like this. Your answer is complete.

D E
0

B
10

15

F
20

25

30

35

40

45

50

55

60

Keep in mind that your line does not pinpoint the loci for each of the six linked
genes on the chromosome. All you have identified is the correct sequence of
these genes and the relative location of the six. The correct arrangement of
these six linked genes on the chromosome is D, E, B, F, A, C.

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Section 6.3 Review


Understanding Concepts
1. Identify 5 types of inheritance where
simple dominance does not operate.
Briefly outline how each affects
patterns of inheritance.
2. List the genotypic and phenotypic ratios observed in offspring produced by
parents who are heterozygous for different alleles, if incomplete dominance
is in effect.
3. When do geneticists observe a continuous distribution of phenotypes for
a particular trait?
4. What effect do linkage and crossing
over have on gamete variety and
phenotypic expression in the next
generation?
5. Explain why a knowledge of probability is important in the study of
genetics.

Applying Inquiry/
Communication Skills
6. Two genes are linked on the same
chromosome. In spite of this, they
assort independently. What can you
conclude about their relative locations
on the chromosome?
7.

What percent of crossing over will produce results identical to independent


assortment? Explain.

8. The colour of feathers in birds is often


determined by genes that exhibit incomplete dominance. For example the
gene for black feathers, B, may be incompletely dominant to the gene for
white feathers, b. The heterozygous
condition produces a bird with blue
feathers. Determine the genotypic and
phenotypic ratios that will result from
each of the following crosses:
a) blue x white
b) black x blue
c) blue x blue

Parent Set

Children

1. O x O

AB

2. AB x O

3. A x O

4. AB x A

10. A farmer crosses two plants with the


genotypes AaBb and aabb and plants
1000 seeds that result from the cross.
How would you explain each of the following phenotypic ratios?
a) 240 show both recessive traits, 255
show the dominant trait A with the
recessive trait b, 245 show the recessive trait a with the dominant
trait B, and 260 show both dominant traits.
b) 490 show both recessive traits, 510
show both dominant traits.
c) 495 show the recessive trait a with
the dominant trait B, 505 show the
dominant trait A with the recessive
trait b.
d) 450 show both recessive traits,
45 show the dominant trait A with
the recessive trait b, 55 show the
recessive trait a with the dominant
trait B, and 450 show both dominant traits.

Making Connections
11. Predict the social, political, and
economic impact of the Human
Genome project.
12. Most nature/nurture studies involve reuniting identical twins that have been
brought up in different environments.
The identification of suitable twins for
this type of study by geneticists requires
a search of personal medical and adoption records. The twins often dont even
know about the existence of their identical sibling until they are contacted by
the researchers. What problems or ethical issues could arise when this type
of research is allowed?

9. Use your knowledge of the inheritance


patterns of the ABO blood types to
match the following parent sets to the
correct child.

CHAPTER 6

Genetics and Heredity

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Inquiry Skills

Investigation 1

(Section 6.1)

Mendelian Inheritance Patterns


The patterns of inheritance outlined by Mendel apply
to many traits observed in a wide range of organisms. Corn is an excellent study subject, as it exhibits
several obvious traits. In addition, each kernel on a cob
of corn represents a single fertilization, where a pollen
grain (male gamete) has fertilized an ovule (female
gamete). As a result, each cob represents a whole
generation of offspring that can be analyzed for their
combinations and ratios of phenotypes.

Problem
To study the inheritance of several traits in corn.

Materials LAL1
 3 different cobs of corn: 1) purple and white kernels
(a monohybrid cross) 2) purple with smooth (starchy)
kernels and white with wrinkled (sweet) kernels (a
dihybrid cross) 3) purple with smooth (starchy) kernels and white with wrinkled (sweet) kernels (a dihybrid back cross to the homozygeous recessive)
 T pins
 Calculator or Graphic Calculator with Lists function

Type of
Cross

Parental Expected Expected Observed


Genotypes Phenotypic Phenotypic Phenotypic
Ratio
Ratio for
Ratio
Number of
Kernels
Counted

#1
#2
#3

Cross #1 This cob illustrates the result of a monohybrid cross involving the trait of kernel colour. Purple
kernels are the result of the production of the pigment
anthocyanin. Purple in kernels is dominant to yellow
kernels. Use the symbols R for the purple allele and r
for the yellow. A homozygous purple plant was crossed
with a yellow plant in the parental cross. Two of the
resulting F1 plants were then crossed to produce the
F2 cob that you will study. Fill in the first three columns
of your chart for this cross.

Initiating and Planning

Applying Technical Skills

Using Tools, Material, Equipment

Conducting and Recording

Analyzing and Interpreting

Concluding and Communicating

Cross #2 This cob illustrates the result of a dihybrid


cross involving two characteristics, purple versus yellow and starchy versus sweet kernels. The gene for
starchy kernels is dominant to the gene for sweet
kernels. Use the symbols S for starchy and s for sweet.
Starchy kernels are full and rounded and are often described as smooth, while sweet kernels look wrinkled.
A homozygous purple, starchy kernel plant was crossed
with a yellow, sweet kernel plant in the parental cross.
Two of the resulting F1 plants were then crossed to produce the F2 cob. Fill in the first three columns of your
chart for this cross.
Cross #3 This cob illustrates the result of a test cross.
One of the F1 plants from cross #2 has been crossed
with a plant that had yellow sweet kernels. Fill in the
first three columns of your chart for this cross.
1.

Procedure
Copy the chart below into your notes. Record your observations as you study the three different cobs of corn.

2.
3.

Count at least 400 kernels on each of the three cobs


that you have been given. Work with a partner, one
student counting the kernels and one student
recording the results. Keep a tally of each of the
phenotypes that you expect to observe for each
cross. In cross #1 you will record the number of
purple kernels and the number of yellow kernels.
Use the T pins to keep track of the rows counted.
Add your results for each of the three cobs to a table
of class results on the blackboard.
Use the class results to fill in the expected and observed phenotypic ratios in your chart.

Analyzing and Interpreting


1. Examine your own data and the class data. State
whether the result of each cross fits the expected
result
2. How would you explain any a) small differences between your expected ratios and the observed ratios
b) significant differences between your expected ratios and the observed ratios?
3. Write a clear statement of the Mendelian principles
illustrated by each of the three crosses.

Concluding and Communicating


The Mendelian ratios that you have studied in this
lab are predictions based on segregation, independent
assortment, and random fertilization. Because these


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UNIT 2

Genetic Continuity

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(continued)

are all influenced by chance, your observed results may


differ from the expected results.

The chi-square test Scientists have a method of evaluating to what degree observed ratios deviate from the
expected ratios (often called the norm). They must
determine if this deviation is by chance or due to
uncertainty in their assumptions. This method is called
a chi-square test and is represented mathematically by
the equation:
2 =  (oe)2/e

where o = observed value


e = expected value
(oe) = deviation
 = the sum of

If the observed frequencies are close to the expected frequencies, then the chi-square value will be
small, less than a predetermined value obtained from
a chi-square table. In this case, there is no reason to
reject the explanation of the pattern of inheritance suggested. When the chi-square value is higher than the
value obtained from the tables, then there may be reason to reject your hypothesis.
A sample chi-square calculation is illustrated below
for hypothetical monohybrid and dihybrid crosses.
a) Monohybrid Cross with 1000 individuals tested
Expected Observed
phenotypic (o)
ratio
numbers
of each
phenotype
3/4
740
1/4

260

Expected
(e)
numbers
of each
phenotype
3/4 1000
= 750
1/4 1000
= 250

Deviation
(oe)

740 750
= 10
260 250
= +10

Total = 1000

(oe)2 (oe)2/e

(10)2 100/750
= 100
= 0.13
(+10)2 100/250
= 100
= 0.40
2 = 0.53

b) Dihybrid Cross with 1000 individuals tested


Expected Observed
phenotypic (o)
ratio
numbers
of each
phenotype
9/16
578
3/16
3/16
1/16

Expected Deviation
(e)
(oe)
numbers
of each
phenotype
563
+15

197
187
167
187
58
63
Total = 1000

+10
20
5

(oe)2 (oe)2/e

225

Interpreting the chi-square value The chi-square value


calculated for the dihybrid cross is higher than the
value for the monohybrid cross. For these two
hypothetical cases, this is as you might expect. The
greater the number of phenotype categories (two for
the monohybrid and four for the dihybrid), the more
deviation is expected due to chance. This factor is taken
into account by determining the degrees of freedom
(d/f). The degrees of freedom are equal to (n1) where
n is the number of different phenotypes that may result from a given cross. The d/f for the monohybrid
cross is 1 and the d/f for the dihybrid cross is 3. The
following critical values obtained from chi-square
tables for p (probability) equal to 0.05. This means that
we would expect a calculated value of deviation for one
degree of freedom to be greater than 3.84 only 1 in 20
times. This is the critical level of deviation often used
when considering a scientific hypothesis. A chi-square
value greater than 3.84 for one degree of freedom
would indicate relatively low probability that the deviation is due to chance and therefore a low probability
that the data support your hypothesis.
Chi-square values

degrees of freedom
Chi-square value

1
3.84

2
5.99

3
4
7.82 9.49

In both of the examples above, the chi-square value


is less than the table value: 0.53 is less than 3.84
(1 degree of freedom for the monohybrid cross) and
3.48 is less than 7.82 (3 degrees of freedom for the
dihybrid cross) As a result, you can accept the hypothesis that the outcome of each of these two crosses
is the result of segregation, independent assortment,
and random fertilization.
4. What was the hypothesis used to explain the outcomes of each corn cross in your investigation?
5. Calculate the chi-square value for results of the F1
crosses represented by each of your three corn cobs.
Are these values greater or less than the table
values given in the example calculations? What
do these chi-square values tell you about your
hypothesis? You might use the Lists function on a
graphing calculator.
6. What explanations would a geneticist use if the
chi-square values exceeded the critical values?

0.40

100
0.54
400
2.14
25
0.40
2 = 3.48

Extending
7. Why did you use the results tabulated for the
class rather than those from your single cob of
corn?
8. Scientists often use statistical methods like the chisquare test to analyze their data. What advantages
are gained by using these types of calculations?

CHAPTER 6

Genetics and Heredity

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Inquiry Skills

Investigation 2

(Section 6.1)

Human Traits Following Mendels


Patterns of Inheritance
Section 6.1 focused primarily on the transmission of
traits in the common pea plant. Many human traits follow the same patterns as Mendel described. In this investigation you will have the opportunity to study some
human traits.

Problem
What human traits follow the patterns of inheritance
outlined by Mendel?

notebook
LAL1
calculator or graphing calculator
grid papers
PTC test paper

Experimental Design
1.

2.

Produce a chart to record results for yourself and


25 students. You will have to record the traits you
have selected, the dominant and recessive allele for
these traits, the possible phenotypes for each trait
studied, your phenotype, your genotype, and the
number of students in your study.
Two sample traits will get you started.
a) Obtain a piece of PTC test paper from your
teacher. People who can taste PTC (phenylthiocarbamide) in small amounts are called tasters while
those who require a high concentration or totally
lack tasting ability are called non-tasters. Place
the strip on your tongue towards the back of your
mouth where bitterness is sensed. A description of
your phenotype should be clear once the strip is
moist (1015 s). Discard the strip. Record your personal information and data for 25 classmates on
your chart. (The allele for tasting, T, is dominant
over the allele for non-tasting, t.)
b) Clasp your hands together as you normally do
in a comfortable fashion. Record which thumb is
on top. Record your personal information and data
for 25 classmates on your chart. (The allele for
left on top, L, is dominant to the allele for right on
top, l.)

182

UNIT 2

Initiating and Planning

Applying Technical Skills

Using Tools, material, Equipment

Conducting and Recording

Analyzing and Interpreting

Concluding and Communicating

3.

Research in order to identify five additional human


traits that follow the relatively simple patterns outlined by Mendel. Record information in your chart
for your own phenotype and genotype and for the
phenotypes of 25 classmates.

4.

Develop some graphical method of representing


your data to summarize the results for the 25 study
subjects.

Analyzing and Interpreting

Materials





Genetic Continuity

1. For how many of the traits do you show the dominant phenotype? the recessive phenotype?
2. When is it possible to identify your genotype as a
single specific combination? When is it possible that
you have one of two genotypic combinations but you
cannot specify which one? In the latter situation,
how could you determine your specific genotype?

Concluding and Communicating


3. Is it likely that you would show the same seven phenotypes as one of your classmates? Explain. (Hint:
How many different combinations of phenotypes
exist when you describe all seven phenotypes?)
4. Is it likely that you would show the same seven
genotypes as one of your classmates? Explain. How
does your answer here compare to the answer to
question 3 above?
5. Study the class results. Is the dominant trait the
one most frequently observed? Is this what you
would expect? Explain.
6. How effective is your graphical representation of
the results of your student survey for the five traits?
What patterns are conveyed by this representation?

Extending
7. Select any one of the traits that you have studied
and produce a pedigree for this trait covering as
many generations as possible. If your family is small
or this information is difficult to obtain, use the family of one of your classmates.

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C H A P T E R S U M M A RY
Key Terms
allele
co-dominance
continuous distribution
crossing over
dihybrid (cross)
discontinuous distribution
dominant trait
environment
F1 generation

F2 generation
gene
gene map
genetics
genotype
heredity
heterozygous
homozygous
Human Genome Project

incomplete dominance
law of segregation
law of independent
assortment
linkage
linkage groups
monohybrid (cross)
multiple allelism
multifactorial inheritance

phenotype
P generation
pleiotropy
Punnett square
purebred
recessive trait
recombinant

Essential Understandings


6.1 The Origins of Genetics

A test cross is a way to determine a genotype. It is


the cross of the individual being tested to a homozygous recessive individual.

Gregor Mendel performed extensive scientific experiments in the mid-1800s on the common pea
plant in order to determine patterns of inheritance.

Mendel formulated two laws of inheritance, the


law of segregation and the law of independent
assortment.

Homozygous parents of differing phenotypes will


produce offspring with an intermediate phenotype
if incomplete dominance is in effect.

A hybrid cross involving dominance produces offspring that have a 3:1 phenotypic ratio and a
1:2:1 genotypic ratio in the F2 generation.

The ABO blood group system exhibits multiple


allelism and co-dominance.

A dihybrid cross involving dominance produces offspring that exhibit a 9:3:3:1 phenotypic ratio in F2.

Some traits determined by multifactorial inheritance,


like height in humans, show a continuous distribution in phenotypic expression.

Although Gregor Mendels explanations were not


immediately accepted, they eventually became the
basis of the branch of science called genetics.

Human traits such earlobe shape follow Mendels


laws of inheritance.

Linked genes do not assort independently. As a


result, linkage reduces the number of different
gametes possible in a parent organism and thus
reduces the variety of offspring phenotypes
observed.

Crossing over promotes recombination and variety among offspring.

Knowledge of linkage and crossing over has helped


geneticists produce gene maps.

6.3 Genetics After Mendel

6.2 Genetic Analysis




A Punnett square can be used to outline the possible outcomes (offspring) that could result from a
particular cross.

Mendels Law of Segregation and Law of


Independent Assortment are accounted for in the
events of meiosis.

Consolidate Your Understanding


1.

Review your sequence diagram of the scientific process


from page 153. How would you revise it, based on what
you have learned?

2.

Summarize the key concepts in the chapter in a concept


map.

3.

Consider the timeline of scientific discovery in genetics


and the role of women. What impact did society have
on the participation of women?

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Genetics and Heredity

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CHAPTER 6 REVIEW
Understanding Concepts
1. If A is linked with B and a is linked with b, how
many different phenotypic combinations would be observed
in the offspring resulting from the cross AaBb  aabb?
a) 1
b) 2
c) 4
d) 6
e) 8
2. The genotype of an individual that shows the dominant
phenotype can be determined by crossing it with an individual that is:
a) heterozygous dominant
b) heterozygous recessive
c) homozygous dominant
d) homozygous recessive
3. If a male produces 400 sperm cells and his genotype is
AABb, on the average, how many sperm of each kind
will he produce? The A gene and the B gene are not
linked.
a) 200 AB, 200 Ab
b) 300 AB, 100 Ab
c) 100 aB, 100 ab, 100 Ab, 100 AB
d) 100 AB, 300 Ab
4. If a gene b is lethal in the recessive condition bb, then
from a cross AaBb  AaBb, how many offspring out of
16 would you expect to die? The genes are not linked.
a) 1
b) 4
c) 8
d) 16
5. Alleles for the same trait separate during:
a) fertilization
b) mitosis
c) meiosis I
d) meiosis II
6. The relationship of a genotype to a corresponding phenotype is sometimes compared to the relationship that
exists between a blueprint and the appearance of the
building produced from the blueprint. Why do you think
this is a good comparison?
7. Distinguish between the following pairs of terms:
a) purebred and hybrid
b) heterozygous and homozygous
c) dominant and recessive
d) phenotype and genotype
8. Explain why it is not necessary to produce a Punnett
square whenever you are asked about the phenotypes
that result from a dihybrid cross.
9. If a trait shows incomplete dominance, what type of
expression is observed in the hybrid?
10. How many different types of gametes would an organism
with the genotype AaBbcc produce? List the different

combinations. What is the probability that one of these


combinations would be passed on to the next generation?
11. If you crossed a brown-eyed dark-haired homozygous
female with a light-haired blue-eyed male, given that
dark hair (A) and brown eyes (B) are dominant to light
hair (a) and blue eyes (b) respectively, what is the correct genotype of the offspring?
12. If a couple has three children, all girls, what is the probability that the next child will be a girl? Explain.
13. Outline how a geneticist would explain each of the following observations.
a) continuous distribution of phenotypes in traits such
as human height
b) intermediate expression
c) identical twins brought up in different environments
are very different for a particular trait.
14. Explain why Mendel suggested that two factors rather
than one determined each of the pea plant traits
studied.
15. Explain the difference in phenotyphic expression between Mendelian inheritance with dominance and
multifactorial inheritance. Illustrate this difference
graphically.

Applying Inquiry/
Communication Skills
16. Genes A, B, C, D, E and F are known to be linked. The
following information is provided.
A is at one extreme end of the chromosome
A crosses over with C 35% of the time
B crosses over with C 5% of the time
B crosses over with F 20% of the time
A crosses over with E 10% of the time
B crosses over with E 30% of the time
E crosses over with D 35% of the time
D crosses over with F 25% of the time
What is the correct sequence of the genes on the
chromosome?
17. Determine the genotypes of the parents in each of the
following crosses involving the ABO blood group system.
Parental
Phenotypes

UNIT 2

Genetic Continuity

Types of Offspring Observed


B
AB
O

a) B x A
b) B x A

1/4

1/2

1/2

1/4

1/4

c) B x O

1/2

d) AB x B

1/2

e) B x B

3/4

f) AB x B

184

1/4

1/2

1/4
1/2

1/2
1/4
1/4

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18. In a certain plant, tall (T) is dominant to short (t) and


red flowers (R) are dominant to white flowers (r).The results of a cross of a TtRr plant with a ttrr plant are shown
in the table.
Phenotype Tall, White Tall, Red Short, White Short, Red
Number of
offspring 415

95

85

405

Is this what Gregor Mendel would have expected? Which


of his laws cant be applied to this situation? How can
these data be explained?
19. Logically, one would expect the dominant trait to
appear in a larger percentage of individuals than the
recessive trait. Discuss the validity of this statement.
20. You have studied the ABO blood group system. This is
just one of many such systems. Two other examples
are the MN system and the Rh system. The MN system
shows co-dominance and the Rh system shows dominance according to the following charts.
MN
Corresponding Rh
phenotypes genotypes
phenotypes

Corresponding
genotypes

MM

Rh  (positive)

RR, Rr

NN

Rh  (negative)

rr

MN

MN

The identities of 4 babies in a hospital nursery are confused during an evacuation of the hospital. Using your knowledge of the
three blood group systems (ABO, MN and Rh), match the parent
sets to the proper child.
Baby

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and height. Explain how two below average height


parents could produce an above average height child.
22. In studies of a vegetable, plants with crinkled leaves are
crossed. The F1 genotype is raised and two other phenotypes appear in the offspring in the numbers shown
in the table below.
Phenotype of
Plant

Straight
Leaves

Crinkled
Leaves

Curly
leaves

Number of
Offspring

192

410

214

a)
b)
c)
d)

Construct a hypothesis to explain these results.


Outline further crosses that could be made to test
your hypothesis.
How might you use a chi-square table to test the validity of your hypothesis?
Set up a chi-square table, as shown below, to
make the calculation of how far the results observed
differ from what you would expect from your hypothesis.

Expected Observed
phenotypic numbers
ratio
(o) of
each
phenotype

Expected Deviation (oe)2 (oe)2/e


numbers (oe)
(e) of
each
phenotype

2=

Total =

Making Connections

Parental Pairs

A. AB/N/Rh+

1. O/MN/Rh-

B/M/Rh+

B. O/MN/Rh+

2. AB/N/Rh+

AB/MN/Rh+

C. B/M/Rh-

3. A/MN/Rh-

AB/MN/Rh-

D. A/MN/Rh-

4. AB/N/Rh-

A/N/Rh+

21. Polygenic inheritance can be illustrated by a hypothetical inheritance of height. Assume height is determined
by five pairs of genes found at five different loci. Capital
letters(A,B,C,D,E) represent alleles that contribute to
height, while lower case letters (a,b,c,d,e) represent alleles that do not. The table shows the relationship between the presence of a capital letter in the genotype
Height

Number of Capitals in the


Genotype

Example

Above average

610

AABbCcDDEe

Average

AaBbCcDdEe

Below average

04

aaBbccDdEe

23. Measure and record the heights of at least 50 individuals of the same sex in your age group (within one
year). Produce a graph (number of people versus height)
for your data. Explain the shape of your graph in terms
of the genetics involved for this trait.
24. Pretend that you are about to interview Gregor Mendel
in 1866 just after the publication of his work. Design ten
questions to ask him in order to write a news article outlining his thoughts and work. Write an article that could
have appeared in a paper at the time.
25. Studies in human genetics are much more difficult to
carry out than studies in plants or fruit flies. Give five
reasons why this is so.
26. Many scientists including Mendel have had their work
go unnoticed by other scientists of their time. Give an
explanation why new discoveries are often ignored by
the rest of the scientific community.
CHAPTER 6

Genetics and Heredity

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CHAPTER 7
SPECIFIC
EXPECTATIONS

Genetics and Society

By the end of this chapter,


you will be able to:


explain how the concepts of DNA,


genes, chromosomes, and meiosis
account for the transmission of
hereditary characteristics from
generation to generation (7.1)

explain how the sex of an


individual can be determined
genetically (7.1)

demonstrate an understanding that


the expression of a genetic
disorder linked to the sex
chromosomes is more common in
males than in females (7.1)

describe genetic disorders in terms


of the chromosomes affected,
physical effects, and
treatment (7.1, 7.2, 7.3)

research genetic technologies


using sources from print and
electronic media, and synthesize
the information gained (7.2, 7.3
and Achievement task)

identify and describe examples


of Canadian contributions to
knowledge about genetic
processes (7.1, 7.2, 7.3)

describe and analyze examples


of genetic technologies that
were developed on the basis of
scientific understanding (7.1, 7.3,
Investigation 1, Investigation 2)

hen you look at the world around you, you see a great diversity of different animals and plants. What makes one different from another?
Why is a cat different from a dog, or a worm different from a human? The
biological answer lies in the genes, the chromosomes, and specifically the
DNA. The power of the DNA molecule to self-replicate and to direct the
formation of other cell compounds make genetic continuity possible.

[CATCH GEN 41- figure for chapter


opener - Karyotype of Cri-du-Chat syndrome identical to figure 12.8 b) in
Krogh. P.U. as is.
Caption: Figure 7.x.

FIGURE 7.1 Karyotypes are important diagnostic tools. The karyotype illustrated
here is of a male with a rare condition known as Cri-du-Chat (cry of the cat). This
condition results from the deletion of part of chromosome 5, as indicated by the
arrow.

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Chromosomes carry the genes from generation to generation. Chromosomes


are organized in a particular pattern for each species and any change from
what is standard for the species is usually disadvantageous to the individual.
Research is continuing into the genetic causes of many disorders. This knowledge has allowed geneticists to better understand the stuff of life. Techniques
developed today may someday make it possible to alter hereditary information in order to cure some genetically transmitted diseases. While our knowledge of genetics creates a better understanding, many of the techniques in
genetic engineering challenge society to consider risks and benefits of applying that knowledge and the ethical and moral issues it presents.

Discovering Biology
Advances in Genetics
The media tend to portray each genetic advance today as an incredible landmark in biotechnology. In groups of four to six, identify several examples of
genetic advances that have received a great deal of attention in the media. Is
the impact of these dramatic cases being exaggerated? As a group, come to
consensus about the degree of impact and present your opinion to the rest
of your class in a one- to two-minute presentation.

CHECKPOINT

Image omitted due to copyright restrictions.

In groups, brainstorm
genetic advances that are
in the news. Create a web
to summarize your
discussion.

Genetics

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7.1 Genes, Chromosomes, and DNA


Key Understandings

When you have completed this section, you will be able to:
 explain how the number and form of the chromosomes identify a species and how
karyotypes are used
 explain how sex is determined in humans
 use Punnett squares to explain why a disorder linked to the sex chromosomes is more
common in males than females
 describe the history of DNA research and how the understanding of the structure of
DNA led to the modern concept of the gene
 explain the key role of DNA replication in mitosis, meiosis, and the transmission of
hereditary characters

WORD ORIGIN
Chromosome from the Greek
chroma, meaning colour, and
soma meaning body, derives
from the fact that chromosomes take up stain quickly
and become obvious coloured
bodies while the other cell
structures remain faint.

Each species of organism has a specific


number of chromosomes in each diploid
body cell. Humans have a diploid number of 46 and these 46 chromosomes are
arranged in 23 homologous pairs with
one homolog of each pair coming from
each parent. The vast majority of

organisms studied to date have a diploid


number between 10 and 50. For example, pea plants have 14 chromosomes,
while the common mouse has 40.
Striking exceptions to this pattern are
the radiolarian (a marine protist) with
1600 chromosomes and a particular

10

11

12

13

14

15

16

17

18

19

20

21

22

centromere position

satellite

FIGURE 7.2 The human karyotype serves as a reference to the draft of the complete map of the
human genome. Each chromosome shows a distinctive banding pattern and centromere position.
Chromosomes 13, 14, 15, 21, and 22 have satellites.

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three types of chromosomes

Sex Determination
satellite
centromere

(a)

(b)

(c)

FIGURE 7.3 The three types of human chromosomes based on centromere placement:

a) metacentric
b) submetacentric
c) acrocentric. The knobs on the acrocentric
chromosomes are called satellites.

species of roundworm that has only 2


chromosomes. Other organisms besides
humans have 46 chromosomes but this
does not mean they share a common appearance with humans. The features of
a particular species are not determined
simply by the chromosome number but
rather by the specific information carried on the chromosomes.
Chromosomes can only be seen in
cells that are actively dividing. During
the other phases of the cell cycle the
hereditary material is not condensed and
appears grainy. In this state it is called
chromatin. Scientists wishing to study
chromosomes stimulate cultured cells to
multiply actively. The cells are then
treated with colchicine, a chemical that
stops mitosis at metaphase. The cells are
then fixed (killed without disrupting the
chromosomes), stained, and prepared
for microscopic examination and photography. Chromosomes that have been
treated in this manner can be counted
and studied easily.
The homologous pairs of chromosomes vary enough to be distinctive. In
humans each homologous pair has a
special banding pattern (resulting from
the stain), length, shape, and knobs or
constrictions. See Figure 7.3.

Once the chromosomes have


been photographed, they can
be sorted into homologous
pairs based on their distinctive features (size, shape, type,
banding pattern). The resulting chart is called a
karyotype. See Figure 7.4.
Karyotypes are useful for
determining whether or not the chromosomes are normal in number and
structure. Early studies of karyotypes revealed that some organisms possessed
one pair of homologs that were not identical in size and shape. This pair was
somehow related to the sex of the individual. The cells of females in many
species possess two identically shaped
X chromosomes, while the males possess a single X chromosome and a
smaller Y chromosome. Human males
therefore have 22 pairs of autosomes
(non-sex chromosomes) plus one X and
one Y, while females have 22 pairs of autosomes plus two X chromosomes. The
male genotype is designated XY while
the female genotype is XX.
In both the male (XY) and female
(XX), only one sex chromosome can
be passed on in a mating. The possibilities for sex of the offspring of any
mating are shown in Figure 7.5 on page
190. Figure 7.6 shows the results in the
form of a Punnett square.

Image omitted due to copyright


restrictions.

FIGURE 7.4 A normal male

karyotype

INFOBIT
It is interesting to note that the
ratio of male newborns to
female newborns is not 50:50
as most people assume. The
world average for births over
the last 20 years is 106 boys
for every 100 girls, that is,
51.5% of newborns are sons.
However, statistics for Canada
show that this rate has fallen
over the same period with a
decrease of 2.2 males per
1000 births. Studies of this sort
were launched following an
explosion of a pesticide plant
in Italy in 1976 that coincided
with a significant increase in
girls born to families that were
exposed to the pesticide.

Discovering Biology
Preparing a Human Karyotype
A karyotype is a chart of the chromosome makeup of any cell.
1. Obtain a photograph of a colchicine metaphase preparation of
a human cultured cell.
2.

Prepare a karyotype of this cell by arranging pairs of chromosomes side by side in descending size from chromosome
1 to chromosome 22.
Decide the chromosome number and sex of the individual
whose cells were being cultured. Explain whether this is a normal or abnormal karyotype.

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Sex Linkage
MOTHER

FATHER

XX

XY
meiosis I

X
meiosis II

fertilization

XX

XY

DAUGHTER

SON

FIGURE 7.5 Sex determination in humans. Note that the sex of any child is determined by the father. If a sperm cell with the Y chromosome fertilizes the egg, a son
will result. On the other hand, if the fertilizing sperm cell contains an X chromosome, a daughter will result.

Thomas Hunt Morgan, through his


meticulous studies with the common
fruit fly, Drosophila melanogaster, introduced the idea of sex linkage when
he observed that the inheritance of
certain traits was linked to the sex of the
fruit fly.
The human X chromosome is quite
large and contains many genes while the
Y chromosome contains only a few.
Genes on the Y chromosome are involved
in determining maleness. Any traits controlled by genes on the X chromosome
are called X-linked traits. This form of
linkage gives results contrary to Mendels
Law of Independent Assortment. A gene
on the X chromosome in the male has
no matching allele on the Y chromosome.
Therefore any gene on the X chromosome, whether dominant or recessive, is
expressed in males. The most common
examples of traits illustrating X-linked
inheritance in humans are hemophilia
(bleeders disease, affecting 1 out of
every 4000 males) and colour blindness
(affecting 8 out of every 1000 males).
Males with the most common form of
colour blindness, red-green colour blindness, cannot distinguish between the
colours of the dots in Figure 7.7 in order
to see the number 5.

XY (father)
Gametes
X 1/2

XX (mother)
Gametes

Y 1/2

X 1/2

XX
female

XY
male

X 1/2

XX
female

XY
male

F1 chance female child: 1/2


chance male child: 1/2

FIGURE 7.6 Punnett square to demonstrate


sex determination

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FIGURE 7.7 Test for red-green colour blindness

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These X-linked afflictions have a


readily recognizable pattern of inheritance as affected individuals are almost
PIG-A
Paroxysmal nocturnal
hemoglobinuria
DMD
Duchenne muscular
dystrophy

ATP7A Menkes syndrome

IL2RG
X-linked severe combined
immunodeficiency (SCID)
TNFSF5 Immunodeficiency
with hyper-IgM
FMR1 Fragile X syndrome
MeCP2 Rett syndrome
ALD Adrenoleukodystrophy
HEMA Hemophilia A
FIGURE 7.8 Some of the genes mapped on the
human X chromosome, showing their relative
locations. The rare abnormal form has been
indicated. The characteristic banding pattern is
shown and the centromere location is indicated.

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exclusively male. In addition, X-linked


traits like hemophilia that are determined
by a recessive gene tend to appear in
every other generation. The disease skips
generations. This pattern is explained in
the Punnett squares below. Gametes are
highlighted in blue and the allele for
hemophilia is circled.

X Linkage in Hemophilia Look at the pattern of inheritance in the family shown


below. The parental cross was between
a male with hemophilia and a female homozygous for the normal allele for blood
clotting. In such a cross there are three
possible gametes involved, with two
possible genotypes for males and three
possible genotypes for females as shown
in Table 7.1. Hemophilia is expressed
only in the males in this family, and its
expression skipped a generation. It is
not seen in the F1 generation.
Possible gametes involved in
hemophilia are:
X H normal dominant allele
usually simply designated X
Xhrecessive allele for hemophilia
Ylacks the gene for this trait, no
locus for information for this trait

TABLE 7.1 Genotypes and Phenotypes Possible in Inheritance of Hemophilia

Males

Females

Genotypes

Phenotypes

Genotypes

Phenotypes

XY

normal male

XX

normal female

XhY

affected male, hemophiliac

XXh

normal female (carrier)

h h

XX
P cross

affected female (very rare)


Xh Y
Gametes

Xh Y  XX

Xh 1/2
XX
Gametes
F1 generation

F1 cross

XY  X Xh
X Xh
Gametes
F2 generation

1/2

X 1/2

X Xh 1/4

XY 1/4

X 1/2

X Xh 1/4

XY 1/4

all daughters carriers, show normal phenotype


all sons normal
XY
Gametes
X

1/2

1/2

X 1/2

XX

1/4

XY

1/4

Xh 1/2

X Xh

1/4

Xh Y 1/4

1/4 chance of an affected son

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Genetics problems can involve traits


that are determined by genes on the autosomes (autosomal inheritance) or by
genes that are on the X chromosome
(X-linked inheritance). Care must be

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taken when answering problems that involve a combination of the two types of
inheritance. A model solution and strategy is given below for one of these types
of questions.

EXAMPLE 1
Human Genetics Problem In humans the gene for normal blood clotting is
dominant to the gene that causes hemophilia. This trait is X-linked. The gene for
tasting PTC is dominant to the gene for non-tasting. This trait is autosomal. A
heterozygous taster woman who is also heterozygous for blood clotting is married to a non-taster man who has normal blood clotting. What is the chance that
they will produce a non-taster hemophiliac son?
Given From the phenotypes, you can determine the genotypes of both parents.
The mother is TtXXh and the father is ttXY. Notice that the father cannot have the
recessive Xh allele or he would be affected with hemophilia.
Required These parents must be crossed to produce the F1 generation. Then
you can determine the probability of this couple producing a non-taster hemophiliac son. This son will have a genotype of ttXhY.
Analysis Use the following steps to produce a Punnett square to show the cross
and the children in the F1 generation.
1. Establish the coding you are going to use. Write this at the top of your answer.
2. Outline the genotypes of the parents based on the information given.
3. Determine the number of different combinations that can be passed on in the
egg and sperm cell. The number of combinations will determine the dimensions of your Punnett square. The genes for tasting and blood clotting are on
separate pairs of homologous chromosomes. They will assort independently.
4. Construct a Punnett square showing the parents and the gamete combinations
possible.
5. Carefully fill in the different possibilities for the F1 generation.
Solution
1.

Blood clotting (X-linked)


Tasting (autosomal)
X normal clotting allele on X
T
tasting
t
non-tasting
Xh recessive allele for hemophilia
Y Y chromosome with no allele for blood clotting

2)

Father ttXY

Mother TtXXh

3)

Father, ttXY

two possible combinations in the sperm he produces.


each has a 1/2 chance of being produced.

Mother, TtXXh

four possible combinations in the eggs she produces.

produced.

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each has a 1 / 4 chance of being

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4)

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The dimensions of the Punnett square required are 2  4.


ttXY
Gametes
tX

1/2

tY

PRACTICE PROBLEM
1/2

TX 1/4
TtXXh
Gametes

tX 1/4
TXh 1/4
tXh 1/4
ttXY
Gametes

Each of the 8 squares in


the F1 generation has an
tY 1/2
tX 1/2
equal chance of occurTX 1/4
TtXX 1/8
TtXY 1/8
ring. As a result, each of
tX 1/4
ttXX 1/8
ttXY 1/8
the 8 squares has a probTtXXh
Gametes
ability of 1 / 8 . Note that
TtX Xh 1/8
Tt Xh Y 1/8
TXh 1/4
this probability can also
ttX Xh 1/8
tt Xh Y 1/8
tXh 1/4
be calculated for each
square in the F1 by multiplying the probabilities of each type of gamete being
formed (1/2 1/4 = 1/8).

5)

Statement The only square that represents a non-tasting hemophiliac son

is the one in the bottom right of the Punnett square. Therefore the correct answer for this problem is 1/8.
Note Remember this value represents a probability and does not necessarily have to happen. This couple could have 16 children with no nontasting hemophiliac sons.

Duchenne Muscular
Dystrophy

One of the more important gene loci


to be mapped on the X chromosome
is the locus that can contain the defective allele for Duchenne muscular dystrophy. The gene responsible
for this X-linked condition was pinpointed in 1987 at the Hospital for
Sick Children in Toronto by a team
led by Dr. Ronald Worton. The gene
was identified and cloned. The ability to identify the gene locus in cells

allowed doctors to study the inheritance pattern of this trait and to


understand the disease better.
Geneticists are able to identify the
presence of this allele in heterozygous normal females who have the
potential to produce sons with
Duchenne muscular dystrophy.
Males with the allele for
Duchenne muscular dystrophy
undergo loss of size, strength, and
activity in muscle. Winnipeg scientist
Dr. Judy Anderson recently discovered a method of triggering muscle
growth. Dr. Anderson discovered that
nitric oxide released from muscle
fibres is the trigger to muscle growth.
She hopes that her research will lead
to a way to make muscles grow as
needed and improve the quality of life
for those with muscular dystrophy.

Use the method outlined to


answer the following practice
problem.
In humans the gene for normal colour vision is dominant
to the gene for colour blindness. This trait is X-linked.
The gene for tasting PTC is
dominant to the gene for nontasting. A non-tasting woman
who is a carrier for colour
blindness is married to a heterozygous tasting, normal
man. What is the chance that
they will produce each of the
following children?
a) a son
b) a non-tasting son
c) a non-tasting colourblind son
d) a tasting colour-blind
daughter

Image omitted due to


copyright restrictions.

FIGURE 7.9 Dr. Judy Anderson researches


the control of muscle growth.

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Dr. Murray Barr and


the Barr Body
Dr. Murray Barr attended the
University of Western Ontario and
received his MD in 1933. He was
responsible for starting a new era
in research and diagnosis of genetic
disorders. In 1948 he was conducting
a clinical investigation to study
whether increased nerve cell activity
produced structural changes in the
nerve cells. A chance examination of
the sections of nerve tissue from cats
revealed that the cell nuclei in some
of the cats contained a prominent
mass of chromatin while the cell
nuclei in other cats lacked this
mass. Further research, which Barr
described as curiosity-driven,
clearly showed that this chromatin
mass was present in the nuclei of

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female cats and absent in those of


male cats. This mass of sex
chromatin, found only in females, is
now known as the Barr body.
Further studies in 1961 by Mary
Lyon and Lillian Russell showed that
the Barr body was an inactive X chromosome in a female XX cell. Cells
in females have two X chromosomes
while those of males have only one.
Females compensate for having two
copies of the X chromosome by
condensing one of them into an
inactive form. Which X chromosome
is condensed is a matter of random
chance in each cell.
The discovery of this extra
information through Barrs studies
resulted in a new area of genetics
called human cytogenetics. The as-

ogy of karyotyping for diagnosis developed from this understanding. For


example, a Turners syndrome female
who has only one X chromosome will

For over 100 years scientists have studied the molecules of the cell in an attempt to reveal some of lifes deepest
secrets. Today molecular geneticists have
a basic understanding of how life forms
are able to reproduce themselves and
produce new cells. The key to this understanding is the molecular structure
of chromosomes. All chromosomes are
made of deoxyribonucleic acid, (DNA)
and proteins. Knowledge of the role and
structure of DNA has developed over a
period of time beginning in the 1800s.
In 1869, a German chemist named
Frederich Miescher isolated a substance
from the pus collected from infected
wounds and boils. He called this substance nuclein because he found that it
was concentrated in the nucleus of the
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Genetic Continuity

not have a Barr body despite being


female. This condition is referred to
as X0. A Klinefelters syndrome male
who is XXY, and so has one more X
chromosome that usual, will show a
Barr body despite being male. Today
geneticists use a knowledge of Barr
bodies to improve diagnosis and
treatment of individuals with sex
chromosome abnormalities.

Image omitted due to


copyright restrictions.

sociation between chromosomal


abnormalities and developmental
defects was shown. The technol-

DNA

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FIGURE 7.10 A typical female cell showing a


Barr body

cell. Later, in 1880, nuclein became


known as nucleic acid because it
exhibited acidic properties. The important role of this substance and its structure were not known at this time.
In 1928, the British scientist
Frederick Griffith performed experiments on several strains of a form
of bacteria called Pneumococcus.
Bacteriologists had identified one strain
of Pneumococcus that lacked a smooth
outer capsule. As a result this rough
form is easily destroyed by a host organisms immunological defences. This
form that cannot cause disease is termed
non-virulent. A second strain, which
does have a smooth outer coating,
is quite capable of producing a lifethreatening form of pneumonia and is
termed virulent. Griffith injected a

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combination of dead smooth bacteria


and live rough bacteria into mice.
Although he suspected that this would
be a harmless combination, all the mice
died of pneumonia. Samples of blood
taken from the dead mice were swarming with virulent smooth bacteria that
were still capable of killing other mice.
Somehow the hereditary information for
a smooth capsule had been passed from
the dead smooth bacteria to the living
rough bacteria.
In 1944, Oswald Avery, and his coworkers, McLeod and Macarty, identified
the transforming principle in Griffiths
experiments as DNA. For the first time,
a glimpse of the key role of DNA had been
obtained. A functional model of the structure of DNA was first proposed by two
scientists, Francis Crick (an Englishman)
and James Watson (an American). Their
outline of DNA structure presented in
1953 earned them the Nobel Prize. In the
early 1960s many studies, including
those of Marshall Nirenberg and Har
Gobind Khorana, resulted in an interpretation of the language of the instructions encoded in DNA. This can be
summed up as DNA codes for RNA and
RNA codes for protein.

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block molecule of DNA is a nucleotide


composed of a sugar molecule, a phosphate molecule, and a nitrogenous base.
The chemical properties of the possible
nitrogen-containing bases found in
DNA adenine (A), cytosine (C), guanine
(G) and thymine (T)ensure that if adenine is found on one side of the ladders
rung, then thymine must be found on the
opposite side (or vice versa). See Figure
7.13 on page 196. In the same way cytosine is always matched with guanine
(or vice versa). These matched pairs are
called complements (A with T, C with G).

Investigation
Refer to page 230,
Investigation 2.

Image omitted due to copyright


restrictions.

The Structure of DNA


The Watson-Crick model has enabled a
better understanding of the roles of genes
and chromosomes. Watson and Crick described DNA as a double helix. See
Figure 7.16 on page 197. They were able
to determine this from photographs produced by Rosalind Franklin using a technique in X-ray diffraction (see Figure
7.12). Photographs using this specialized
technique indicated that the molecule
had a helical structure.
This double helical shape is best
illustrated by imagining a twisted ladder. A computer-generated model of
DNA is shown in Figure 7.14. The two
sides of the ladder are made up of a
repeating sequence of sugar (deoxyribose) and phosphate groups. The rungs
of the ladder are composed of a pair of
nitrogenous bases. The basic building

FIGURE 7.11 Although we give most of the


credit for the model of DNA to Watson and
Crick, many other scientists, such as Rosalind
Franklin, made important contributions.

Image omitted due to copyright


restrictions.

FIGURE 7.12 This image created by Rosalind


Franklin using a technique known as X-ray
diffraction helped Watson and Crick to understand that DNA was a double helix.

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The complementary base pairing depends on the shape of the DNA molecule
and the ability of the base pairs to form
hydrogen bonds. Modern computer technology allows us to view and manipulate computer-generated, threedimensional models of DNA to observe
the hydrogen bonds linking the two

To find out more about threedimensional molecular models,


go to
www.pearsoned.ca/biology11.

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helical chains forming the ladder-shaped


molecule.
If you know the sequence of bases in
the nucleotides on one side of the ladder,
then you also know the sequence on
the other side because of complementary
base pairing. Scientists quickly realized
that the code of life was somehow

NUCLEOTIDES ARE THE BUILDING BLOCKS OF DNA


sugar
(deoxyribose)

nitrogenous
base

NUCLEOTIDE

P
O

O
P

phosphate
group

Image omitted due to copyright


restrictions.

P
O
T

P
P

O
P

P
O

Sugar-phosphate
backbone

FIGURE 7.14 Computer-generated models like


this one are useful in helping us visualize the
helical structure of DNA.

O
P

hydrogen bond

O
P

O
P

Image omitted due to copyright


restrictions.

DNA
double helix

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FIGURE 7.13 The basic


building block in the DNA
molecule is the nucleotide
with its three parts: a phosphate group, a sugar, and a
nitrogenous base. These
nitrogenous bases are linked
together in two separate
chains that are joined in the
middle in a complementary
fashion, A with T, and C with
G. These two chains are then
wound around one another
in a double helix.

FIGURE 7.15 Striking views of replication have


been observed through the electron microscope.
In this micrograph the process of replication is
clearly seen in human DNA in a cultured cell. The
replication bubble increases in length, indicating
that chain growth happens in two directions
from a common origin.

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Image omitted due to copyright restrictions.

FIGURE 7.16 The model of


DNA (shown here in the background) constructed by
Watson and Crick is undoubtedly one of the most important advances in biology in
the twentieth century.

reflected in the sequence of nitrogenous bases in the rungs of the double


helix. A long sequence of these nitrogenous bases makes up a gene and the
order of the bases in the gene determines
what product the gene will produce. The
sum of the genes in a cell in turn determines what kinds of proteins a cell will
make. Ultimately, it is the molecular
structure of the proteins that gives each
cell its individual characteristics.

Replication
Copying the Code
Every cell must duplicate its hereditary
information prior to mitosis or meiosis.
The ability of DNA to produce a copy of
itself in the process of replication is
unique among all biological molecules.
This process begins when the hydrogen
bonds between the base pairs, forming
the rungs of the ladder, break apart. This

unzipping process produces two halfladders or strands of DNA still held by


their sugar phosphate backbones. Freefloating DNA nucleotides found inside
the nucleus, such as adenine nucleotide
and cytosine nucleotide, now make their
way to these strands and attach themselves to the exposed nitrogenous bases.
These free-floating nucleotides will only
bond to their complementary bases. This
process is shown for a very short piece
of DNA in Figure 7.17 on page 198.
When the process is complete, two
identical helices just like the original are
produced, with each helix containing one
of the original strands. This method of
replicating the hereditary information is
termed semiconservative. See Figures
7.17 and 7.18. If the original molecule
had kept both old chains while a completely new double-stranded molecule
was built, the replication would have
been conservative.
CHAPTER 7

WEBLINK
Investigate the work of
Meselson and Stahl and others
to prove semi-conservative
replication. Prepare diagrams
of all possible types of
replication. Begin your
research at
www.pearsoned.ca/biology11.

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DNA to be replicated
G C
T A
A T
G C
C G
T A
Strands separate

OLD

A
T

NEW

Each strand now serves as a template for the synthesis


of a separate DNA molecule as free nucleotides base-pair
with complementary nucleotides on the existing strands.

FIGURE 7.18 As the DNA unwinds, each of the


original strands (shown in red) acts as a
template for a complementary strand (shown in
yellow)

G C
T A

This results in two


identical strands of DNA.

G C
T A

A T

A T

G C

G C

C G

C G

T A

T A

Order of bases
encodes
information
for protein
production.

FIGURE 7.17 The resulting two molecules of DNA are identical to the original.

Transcription and
Translation
DNA material never leaves the nucleus.
Experiments carried out by Joachim
Hammerling on the single-celled alga,
Acetabularia, demonstrated that the

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nucleus of the cell directed development


in the cytoplasm. Investigations in the
1960s clearly showed that a message
reflecting the DNA code in the nucleus was transferred from the nucleus
to the site of protein synthesis in the
cytoplasm.
The production of this message is
termed transcription. This process begins with the unzipping of a segment of
DNA (much as in replication). This segment represents a coding unit (one
gene) determining a specific protein. In
this process it is not DNA nucleotides
that hydrogen-bond to the exposed
bases. Instead, nucleotides of ribonucleic
acid (RNA) complementary base-pair by
hydrogen bonds to one of the exposed
DNA strands. There is one difference
in the case of RNA base-pairing. Each
adenine on the DNA strand pairs with
uracil instead of thymine (as would happen in DNA base-pairing). The other
three pairs, T with A, C with G, and G

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with C occur as in DNA base-pairing. The


RNA nucleotides arrange themselves
along the DNA strand using the DNA
strand as a template. The single-stranded
RNA molecule produced is called messenger RNA or mRNA for short.
The production of mRNA is called
transcription because the information in
DNA has been transcribed into another
complementary form (mRNA) that will be
used in protein synthesis. In this way the
information coded in the DNA has a way
to get out into the cytoplasm without
the DNA ever having to leave the nucleus.
In some insect tissues seen under the microscope, regions of the chromatin that
are actively engaged in transcription appear as puffs in stained preparations
of chromosomes. The puffs indicate
active production of mRNA.
The process of protein synthesis
that occurs on the ribosomes is termed
translation. In this process the language
of the base sequence in the mRNA is
translated into the sequence of amino
acids in a protein. When the various types
of amino acid are linked with peptide
bonds in a particular order, the specific
polypeptide results. This polypeptide will
acquire its secondary, tertiary, and quaternary protein structure by bond formation and folding of the molecule. The
protein molecule will then take on its specific function as a regulatory or structural
molecule, either within the same cell or
elsewhere in the organism.
You can now see how DNA directs
protein synthesis. The sequence of adenine, thymine, guanine, and cytosine in
the DNA of the chromosome is used as a
template to determine the sequence of
bases on the messenger RNA. This messenger RNA then dictates the sequence of
amino acids to be linked together at the ribosome to form the protein product.
Once scientists had produced an outline of protein synthesis, they turned
their attention to explaining several other
difficult puzzles involving the chromosomes. How does the cell know to produce a particular protein at the
appropriate time and in the correct

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OVERVIEW OF TRANSCRIPTION AND TRANSLATION

DNA

TRANSCRIPTION
(in nucleus)

mRNA

ribosome

mRNA

TRANSLATION
(in cytoplasm)

protein

FIGURE 7.19 In transcription a length of DNA unwinds, ribonucleotides pair with


the bases on the exposed strands, and a length of messenger RNA is formed. This
mRNA molecule leaves the nucleus and moves into the cytolasm where it binds to
a ribosome. In translation at the ribosome, the sequence of bases on the mRNA is
translated into a sequence of amino acids in a protein.

quantity? The chromosomes of all cells


of an organism have exactly the same
instructions (the same genes). How then,
are cells triggered to differentiate in
order to carry out different functions?
Scientists today are conducting research
to learn the mechanisms that must
somehow switch on some genes while
switching off others to allow only
certain information to be used to produce specific proteins in particular cells.
These are the areas of experimentation,
controversy, and active theory construction today. Researchers suggest that
not all genes are structural genes.

CHAPTER 7

INFOBIT
Once a cell has undergone differentiation, it has not necessarily lost its genetic potential.
This is illustrated by organisms
that can regenerate lost body
parts. When a starfish loses an
arm, some cells in the stump
undergo dedifferentiation,
divide and then differentiate
once again to produce a new
arm. In some organisms these
single, isolated differentiated
cells can undergo dedifferentiation and then develop into a
complete organism.

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Current evidence seems to point to the


existence of two other types of genes,
regulator and operator genes, which can
switch structural genes on and off.

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Scientists now have an understanding of


the structure of the hereditary material
and are also beginning to understand
how it is regulated and controlled.

Section 7.1 Review


Understanding Concepts
1. Are two organisms with an identical
diploid number of chromosomes necessarily identical? Explain.
2. How can different homologous pairs of
chromosomes be distinguished from
one another?
3. A couple has four children, all sons.
Does this mean that there is a better
chance of a daughter on a fifth pregnancy? Why? Why not?
4. Under what conditions could a
hemophiliac father produce a
hemophiliac son?
5. Outline the structure of DNA as described by Watson and Crick.
6. Distinguish among the following processes by describing the location of
each and the molecules involved:
a) replication
b) transcription
c) translation

Applying Inquiry/
Communication Skills
7.

How has the understanding of the


structure of DNA contributed to current thinking about genes?

8. Red-green colour blindness is inherited as an X-linked recessive trait. If a


man who has normal vision marries a
colour-blind woman, what would be
the expected genotype and phenotype
ratios for this trait in their children?
9. A man and his wife both have normal
colour vision. The woman gives birth
to a daughter who has red-green colour
blindness. The man claims that he

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could not have fathered this daughter.


Does genetics back his claim? Explain
your answer.
10. In the fruit fly Drosophila, the gene for
red eyes, R, is dominant to the gene for
white eyes, r. This trait is X-linked.
Predict the genotypic and phenotypic
ratios that would result from each of
the following crosses:
a) a homozygous dominant female
and a red-eyed male
b) a homozygous dominant female
and a white-eyed male
c) a heterozygous red-eyed female
and a red-eyed male
d) a heterozygous red-eyed female
and a white-eyed male
e) a white-eyed female and a red-eyed
male
f) a white-eyed female and a whiteeyed male
11. A male fruit fly with normal bristles on
his body is crossed with a female fly
that exhibits forked bristles on her
body. This cross produces 125 males
with forked bristles and 131 females
with normal bristles. How would you
explain the inheritance pattern of this
trait?

Making Connections
12. The description of the structure of DNA
provided by Watson and Crick is one
of the most important discoveries in biology in the twentieth century. Name
three legal or social issues resulting
from this discovery.
13. Propose how society would be different today without an understanding of
genes, chromosomes, and DNA.

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7.2 Genetic Disorders and Pedigrees


Key Understandings

When you have completed this section, you will be able to:
 explain the occurrence of mutations and their importance in genetics
 describe the genetic basis of several types of genetic disorders
 explain the role of nondisjunction in causing genetic disorders
 explain how studies in population genetics demonstrated the relationship between
maternal age and Down syndrome
 use the proper coding to construct pedigree charts
 identify the type of inheritance illustrated in pedigrees

Mutation
Since DNA directs protein synthesis and
the proteins determine the type of cell,
you might predict that any alteration in
the genetic information would upset the
normal operation of a cell or organism.
You would be correct. Any change in a
gene that is accompanied by a loss or
change in the functioning of the genetic
information is termed a mutation. Many
mutations are harmful. Fortunately, DNA
is normally a very stable substance and
is not easily altered. If a gene is altered,
in most cases the undesirable information is in the form of a recessive allele.
As a result, the harmful effects of the
changed gene will not be expressed in the
heterozygous condition.
Scientists have demonstrated that
mutations can occur spontaneously in
any living organism. Spontaneous mutations do not have any known cause.
Mutations appear to occur at fixed rates
in different species. H.J. Muller in the
1920s developed techniques for measuring the frequency of Drosophila mutation. In later studies Muller showed
that a higher than normal rate of mutation in Drosophila occurred if the flies
were grown at abnormal temperatures
or were bombarded with X rays. Any
factor that can cause mutation is termed
a mutagen. For example, experiments
on mice have confirmed that radiation,
abnormal temperatures, and certain
chemicals can act as mutagenic agents.

Scientists strongly suspect that these mutagens can also affect humans.
Mutations found in the somatic
(body) cells of an organism will usually
go unnoticed unless a significant number of cells are involved. Of course, these
mutations cannot be passed on to the
next generation. The more serious type
of mutation is found in the gametes of a
parent organism. There are two reasons
for concern about mutation in gametes.
This gamete may be passed on to produce an entire organism with this mutation in every cell. Second, this mutation
could be passed on to offspring and continue for many generations.
Aspects of mutation and mutation
rate are important and are of concern
to society. Clinical health problems visible at birth are called congenital
defects. They are caused by mutations
in the genes, environmental agents, or
a combination of the two. Environmental
agents, called teratogens, cause congenital defects by altering the expression
of a gene or genes. For example, a
mother who contracts German measles
(Rubella) in the first three months of a
pregnancy runs a high risk of producing
a child with congenital defects. This is
also true for a mother who abuses alcohol during pregnancy. In these cases, the
abnormalities result from an environmental influence; a virus or alcohol.
Congenital defects like club foot, spina
bifida (an open spine at birth), and congenital heart defects are thought to be

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Mutation:
Incorrect base-pairing

Normal DNA

Mutation:
Incorrect sequence
of base pairs

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Image omitted due to copyright


restrictions.

A
G
G

DNA with point mutations


FIGURE 7.20 Two examples of mistakes possible during DNA replication. Mistakes
like these occur frequently but may be corrected during replication. Changes like
these point mutations may result in defective proteins.

partly genetic, but the role of each of the


contributing factors is not known.
On the other hand, some mutations
cause genetic defects that are obviously
inherited. Some defects are caused by a
single abnormal gene. Diseases such as
hemophilia, albinism, cystic fibrosis, and
sickle cell anemia are produced by a single recessive gene mutation. In these cases
the undesirable defect is the result of a
change in the DNA code for a single gene.

Sickle Cell Anemia Sickle cell anemia


is a blood disorder inherited as an autosomal recessive trait. People who are
homozygous for this gene have Hb S, an
abnormal form of the oxygen-carrying
pigment, hemoglobin, in their red blood
cells. As a result, their red blood cells
take on a peculiar sickle shape instead
of the normal disc shape. The abnormal
shape leads to blockage of capillaries,
damage to other red blood cells, and severe anemia. This disease, which is often
fatal in early childhood, is caused by a
single amino-acid replacement in the
chains of this macromolecule. This
means just one change in a chain of 146
amino acids. This amino-acid replacement is brought about by a change of
one nitrogenous base along the DNA sequence coding for this protein! The ef202

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Image omitted due to copyright


restrictions.

FIGURE 7.21 Sickle cells are the result of a


point mutation.
a) Normal red blood cells.
b) Red blood cells containing Hb S become

sickled in shape when oxygen is low.

fect of this seemingly harmless replacement is drastic and often lethal. The solution of this molecular puzzle involved
protein chemists, molecular geneticists,
and physiologists. Physicians and counsellors continue to be involved in the effort to support families who have a
member homozygous for the sickle-cell
allele. Treatment is provided through
transfusion and careful monitoring of the
persons lifestyle to avoid overexertion
and infection. Since 1998 attempts have
been made to treat some patients
through bone marrow transplants, a
treatment that itself carries some risk.

Cystic Fibrosis At the Hospital for Sick


Children in Toronto, in 1989, Dr. LapChee Tsui led a team that discovered the
chromosomal location of the gene
responsible for cystic fibrosis, a serious

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XY
X 1/2

XX

Image omitted due to copyright


restrictions.

FIGURE 7.22 Lap-Chee Tsui led the Toronto


team responsible for locating the gene for cystic
fibrosis on chromosome 7.

condition inherited as an autosomal


recessive. Cystic fibrosis affects the lungs
due to excessive mucus production. The
mucus builds up and makes breathing
very difficult. Individuals who have cystic fibrosis must take many medications
to help them digest their food and have
daily physical therapy to clear their lungs
of mucus.

Chromosomal Abnormalities
The other major type of inherited
abnormality involves whole chromosomes rather than single genes.
Polyploidy, a condition where the cells
contain an extra whole set of chromosomes, is possible in some plants but is
lethal in humans and most other animals. A more common abnormality in
chromosome number is the result of an
extra chromosome or the absence of a
single chromosome, a condition called
aneuploidy. This type of defect tends to
be more severe than a single gene defect
and is often lethal before birth, due to
spontaneous abortion, or shortly after
birth. An individual possessing an extra
chromosome (that is, three of one kind)
is termed a trisomic while an individual
lacking one of a pair of chromosomes is
termed a monosomic. Trisomics and
monosomics usually arise as a result of an

Y 1/2

O 1/2
Gamete lacking a
sex chromosome

XO

Turners syndrome

YO

Will not survive

XX 1/2
Gamete formed
from nondisjunction

XXX 1/4

XXY 1/4

super female;
usually normal

Klinefelters
syndrome

1/4

abnormal meiotic division in which chromosomes fail to separate. This is termed


nondisjunction.
Down syndrome is one of the more
common abnormalities in chromosome
number observed in humans. Scientists
have been able to identify the cause of
this syndrome from karyotypes. Down
syndrome is caused by a third chromosome 21, an arrangement called trisomy
21. As a result, individuals with Down
syndrome have a total of 47 chromosomes in every body cell. Individuals with
this syndrome have characteristic faces,
eyelids, tongues, and hands, and are developmentally challenged in varying degrees both physically and mentally.
Nondisjunction also can affect the
segregation of the sex chromosomes, producing individuals with extra or missing
sex chromosomes. Nondisjunction may
occur in either the male or female parent
and in either division of meiosis. The outcomes of a mating involving gametes produced by nondisjunction in the female
parent are shown in the Punnett square
in Figure 7.23.
In addition to these numerical
anomalies, parts of chromosomes can
be altered during meiosis due to mistakes in crossing over. These mistakes
result in deletions, duplications, inversions, and translocations.

1/4

FIGURE 7.23 Nondisjunction


and its effect on the chromosome makeup of offspring.
The 0 indicates the absence of a sex chromosome.

Down Syndrome and


Population Genetics
Down syndrome occurs in about 1 out
of every 700 live births. This is the
average when mothers of all ages are
considered. Trisomies of chromosomes
other than 21 do occur but are not in
high frequency. These conditions have
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more damaging effects than Down syndrome, and therefore the fetus may
abort spontaneously or the child may die
shortly after birth.
Most of what you have learned so
far has been restricted to a consideration of a specific cross or the recurrence

Image omitted due to copyright


restrictions.

FIGURE 7.24 This girl with


Down syndrome and her
mother learn how to use a
computer.

Image omitted due to copyright


restrictions.

FIGURE 7.25 The karyotype


of a female individual with
Down syndrome. There are
three of chromosome 21
(arrowed).

TABLE 7.2 Down Syndrome


and Maternal Age

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Mothers age

Probability of Down
syndrome

2024

1 in 1925

2529

1 in 1205

3034

1 in 885

3539

1 in 365

4044

1 in 110

45 or older

1 in

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of a trait in a family. In medical genetics involving humans, these considerations are of obvious importance to the
individuals involved in the cross or family under study. Geneticists, however,
have extended their studies beyond this
level to study whole populations in population genetics. Researchers today
study the frequency of a gene in the gene
pool or the frequency of a genotype in
the whole population. The gene pool is
the term used to describe the pooling
of all the alleles for a specific trait in the
whole population.
Population studies, involving data
collected from thousands of births, have
found an obvious relationship between
maternal age and the frequency of Down
syndrome offspring. Dr. Irene Uchida, a
world famous cytogeneticist at the
McMaster University Medical Centre,
studied chromosomal abnormalities and
has conducted much research in this
area.
Table 7.2 shows statistics on the frequency of Down syndrome based on maternal age. The fact that 45-year-old
mothers produce a Down syndrome
child in 1 in 32 births may not appear
particularly abnormal. But if we compare this frequency to 1 in 1925 in 20year-old mothers, the effect of maternal
age is clearly significant. A comparison
of these two groups shows an increase
in the chances of a Down syndrome child
to be 60-fold. This information has been
helpful for counselling older expectant
mothers.
Researchers have recognized the importance of intensive training in Down
syndrome children prior to the age of
two. In many cases Down syndrome
individuals are able to integrate into society by attending traditional schools and
also receiving job training.
Table 7.3 summarizes some human
disorders that are produced by gene mutation or chromosomal abnormalities.

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TABLE 7.3 Genetic Disorders in Humans

Type of Genetic Disorder

Pattern or Means of Inheritance

Symptoms in Individuals Affected by Condition

Sickle cell anemia

autosomal recessive

blood disorder involving abnormal hemoglobin


red blood cells have a reduced ability to carry
oxygen and appear sickle-shaped in low oxygen

Cystic fibrosis

autosomal recessive

.
.
.

syndrome of effects
mucus accumulates in lungs
problems with digestion

autosomal recessive

severe brain deterioration due to improper fat


metabolism
usually causes death by age three or four

autosomal recessive

lack of pigmentation in skin

autosomal dominant
80% caused by a new mutation

abnormal bone growth results in short


legs/arms and prominent forehead
1 in 25 000 to 40 000 live births

Single Gene Defect

Tay-Sachs disease

Albinism
Achondroplasia

Huntingtons disease

autosomal dominant

brain tissue degeneration; onset around thirties


to forties, usually after reproductive years

Hemophilia

X-linked recessive

blood does not clot properly


predominantly in males

Red-green colour blindness

X-linked recessive

inability to distinguish between different


colours
predominantly in males

Duchenne muscular dystrophy

X-linked recessive

progressive wasting of muscles


predominantly in males

partial deletion of chromosome 5

improperly constructed larynx produces cry of


the cat sound to voice
mentally challenged

Chromosomal Defect
Cri-du-chat syndrome

Fragile-X syndrome

break in the long arm of X chromosome

abnormal facial features; mentally challenged


syndrome of effects

Down syndrome

trisomy 21/47 chromosomes

abnormal facial features, hands and feet, developmentally challenged in various ways
1 in 700 live births
sterile males, tall with long arms
breast development
1 in 800 live births

Klinefelter syndrome

XXY/47 chromosomes
one extra chromosome

Turner syndrome

XO/45 chromosomes
one missing sex chromosome

sterile females, secondary sexual features do


not develop fully
1 in 10 000 live births

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Pedigrees in Human Genetics

predicting the probability of having an affected child in subsequent pregnancies.


The patterns followed by simply inherited genetic traits (single gene defects) are
influenced by several factors. The pattern
within a family will be affected by:
a) whether the gene is on an autosome
(22 pairs in humans) or X-linked (on
the X chromosome)
b) whether the trait is dominant or
recessive
c) the chance of transmission of the
gene from the parents to children
(by way of the gametes)
The simplest patterns can be altered or
confused by many factors, especially
when multifactorial inheritance is involved. The following description considers only the three most common
patterns for simple inheritance. These
are:
a) autosomal recessive inheritance
b) autosomal dominant inheritance
c) X-linked recessive inheritance

A few of the many genetic diseases observed in humans have been described
in Table 7.3. Human geneticists have realized for a long time that these undesirable traits tend to run within family
groups rather than randomly across a
population. Geneticists have developed
a type of chart called a pedigree that is
useful to show the patterns of transmission of a trait within a given family. The
pedigree charts summarize family data
using a set of symbols. Figure 7.26 illustrates some of the more commonly
used symbols.
Pedigrees are usually produced after
an undesirable trait has appeared in a
family. Geneticists collect data on relatives, stretching back for as many generations as possible. The chart produced
may be of use to the geneticist in identifying the way the trait is transmitted or
it may be useful in counselling parents
on the cause of the disease, or in

male

heterozygotes for autosomal


recessive traits

female

carrier of X-linked recessive

mating

death

dizygotic twins (non identical)

marriage between related individuals

monozygotic twins (identical)

sex not specified

parents and children: with method


of identification, affected individual
is II-2

II
1

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number of children of specified sex

affected individuals

FIGURE 7.26 Some of the commonly used symbols in pedigrees

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The pedigrees for each of these three


types of inheritance are distinctive. The
features provide the necessary clues
for geneticists wishing to identify an inheritance pattern. The following stereotype pedigrees illustrate these useful
clues. The distinctive features of each
method of inheritance are also listed.

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FIGURE 7.27 Dr. Margaret


Thompson, a former member
of the genetics team at the
Hospital for Sick Children in
Toronto and an educator in
medical genetics.

Image omitted due to


copyright restrictions.

Autosomal Recessive Inheritance The features of autosomal recessive inheritance


are:
Both parents of an affected individual must be heterozygous
Affected individuals may not appear
in every generation (that is, the trait
may skip generations)
Males and females are affected in
equal numbers (Figure 7.28).

I
1

Autosomal Dominant Inheritance The features of autosomal dominant inheritance


are:
Half of the children of an affected
parent are expected to be affected
The trait is transmitted only by affected individuals and does not skip
generations
Males and females are affected in
equal numbers
Father-to-son transmission is
possible (Figure 7.29).

II
1

III
1

IV
1

FIGURE 7.28 Stereotype pedigree for autosomal recessive inheritance

I
1

II
1

10

10

11

12

III
1

FIGURE 7.29 Stereotype pedigree for autosomal dominant inheritance

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X-linked Recessive Inheritance The features


of X-linked recessive inheritance are:
No father-to-son transmission
(affected father to carrier daughter
and in turn to half of her sons)
Predominantly males are affected;
affected females are extremely rare
The trait skips generations (Figure
7.30).

I
1

II
1

A famous pedigree is shown in Figure


7.31. This pedigree shows the inheritance of the X-linked genetic disorder of
hemophilia in the royal houses of
Europe.

III
1

FIGURE 7.30 Stereotype pedigree for X-linked


recessive inheritance

Duke of
Saxe-Coburg-Gotha

III

Albert

Victoria
Empress
Frederick

IV

Kaiser
Wilhelm
II

Elizabeth
II

Edward
Duke of Kent
(17671820)

Victoria
(18191901)

Helena
Princess
Christian

Edward VII

Irene
Princess
Henry

George V

Duke
of
Windsor

VI

VII

Louis II
Grand Duke Hesse

George III

II

George
VI

Prince
Philip

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Waldemar
Earl
Mountbatten
of Burma

Henry
Prince
Sigismund
of Prussia

Alix (Alexandra)
Tsarina
Nikolas II

Frederick
William

Leopold
Duke of
Albany

Victoria
Eugnie, Leopold
wife of
Alfonso XIII

Alice
of
Athlone

Alexis
Anastasia

Margaret

Beatrice

Lady
May
?
Abel
Smith Rupert Alfonso
Viscount
Trematon

Gonzalo

?
?

Lady Prince Anne


Edward
Diana Charles
Andrew

3 Three female

Carrier female

IX

Hemophiliac male

William Henry

? Status uncertain

FIGURE 7.31 This pedigree represents one of the first useful applications of
pedigrees; showing the transmission of hemophilia in the royal families of Europe.

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Carlos

VIII

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Constructing a Pedigree

A pedigree shows the patterning of transmission of a trait in a family. Choose a


trait that is easy to identify in humans such as tongue rolling or type of ear
lobe. Construct a pedigree for your family or that of a friends, outlining the
inheritance of this trait for as many related individuals as possible.

Section 7.2 Review


Understanding Concepts
1. a) In your own words, define the term
mutation.
b) Distinguish between spontaneous
and induced mutations.
c) What mutagenic agents can induce
mutations?
2. Mutations in the gametes are more critical than those in body cells. Explain.
3. Identify some examples of single gene
defects.
4. Construct a flow chart to illustrate the
effects of the mutation that causes
sickle cell anemia. Demonstrate these
effects at the level of the gene, the messenger, and the protein.
5. What causes chromosomal abnormalities such as Down syndrome where
the affected individual has an abnormal number of chromosomes?
6. What is a pedigree chart and why is
it useful in genetics studies?
7.

List factors that affect the pattern of inheritance for a given trait.

8. What are the three common patterns


of simple inheritance? Describe the
distinctive features of each of these
patterns.
9. Construct a pedigree chart including
the following features:
a) at least 4 generations
b) at least 25 individuals
c) autosomal recessive inheritance
d) 1 relative to relative marriage
e) 1 set of identical twins
10. A man with the genetic defect hiskulphobia marries a woman who does not

have the defect. They have eight children, four boys and four girls. One of
the daughters and three of the sons
have hiskulphobia. The hiskulphobic
daughter marries a normal man and
they have two boys with hiskulphobia
and three normal daughters. One of the
sons with hiskulphobia produces eight
children, four sons with hiskulphobia
and four normal daughters. Another
one of the sons with hiskulphobia produces four normal daughters, two normal sons and two sons with
hiskulphobia.
a) Produce a pedigree for this family
indicating the affected individuals.
Write in the genotypes of individuals where you can determine with
certainty their genetic make-up.
b) What inheritance pattern does this
trait appear to show? Explain your
answer.
11. How are studies in population genetics different from studies of individual
crosses? Why are studies of this sort
often valuable to the geneticist?

Applying Inquiry/
Communication Skills
12. Polychlorinated biphenyls (PCBs) have
been associated with negative effects
on the hatching of birds in Lake
Ontario. Design an experiment to investigate whether these effects are truly
genetic or merely environmental.
13. In the Canadian population, 80% of the
babies born with Down syndrome are
born to women under age 35. How
would you explain this?

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7.3 Applying Our Knowledge of Genetics


Key Understandings

When you have completed this section, you will be able to:
 explain the relationship between genetics and traditional breeding techniques
 evaluate the advantages and disadvantages of inbreeding and outbreeding
 describe several methods of prenatal diagnosis and the use of each of these methods
 explain the process and application of recombinant DNA
 describe the draft results of the Human Genome Project
 describe the steps involved in cloning
 describe some uses of DNA typing in society today
 describe ethical issues that must be considered when using current techniques in
genetics

The development of the modern concept


of the gene has been an amazing intellectual journey. From the idea of factors,
through that of a position on a chromosome, to a length of DNA that codes for
a particular protein, biologists have continued to learn about the nature of the
gene. Surprisingly, early discoveries had
little effect outside the university or
breeding laboratory. However, the technological developments that have led to
the mapping of the human genome and
the combining of DNA from different, unrelated organisms are bringing genetics
from the laboratory into society. No person today is unaffected by genetics.
Whether it is the possibility of knowing
our own personal genetic makeup or the
chance of being affected by a genetic disorder, applications of genetics are everywhere. As well, there are the ethical
issues such as whether we approve of
cloning or simply whether we will buy
and eat genetically modified foods.

Traditional Breeding
Strategies
Plant and animal breeders realized the
advantages of controlled or selective
breeding long before Gregor Mendel
manipulated pea plants. The earliest
farmers quickly realized the value of saving seeds from the best of the years
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Image omitted due to copyright restrictions.

FIGURE 7.32 These Bassett hounds clearly


show the result of many generations of controlled
breeding.

crop. The best milk-producing cattle or


wool-producing sheep were mated while
the livestock of poorer quality was prevented from mating. The result, more
often than not, was a higher production
crop or a better quality herd. In some
cases, growers observed a mutation that
created a new characteristic that was
desirable in a crop. Seedless grapes and
the navel orange originated from these
chance mutations. These plants were
then cultivated using vegetative propagation, a method of asexual reproduction. Today many farmers rely on seed
companies to provide selectively bred
seeds or on skilled livestock breeders to
help them develop a quality herd.
Once a number of desirable traits
have been obtained in a plant or animal,
this set of traits can be passed from generation to generation intact as a result

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of a type of controlled breeding called


inbreeding. In plants, inbreeding
involves the self-pollination of a
desirable plant. This controlled selfpollination maintains a good crop because it prevents the introduction of any
new, possibly undesirable genes into the
plants genotype. In animals, a similar
result is attained by mating close relatives. In cattle, brother-sister matings
are used to maintain a good herd. The
intent of many generations of inbreeding in a plant or animal is to produce a
genotype homozygous for the desirable
traits.
There can be a serious drawback to
inbreeding. All organisms possess some
rare harmful recessive alleles that do not
express themselves in the heterozygous condition. There is an increased
chance that two of these recessive alleles could come together as a result of inbreeding. Two related individuals that
are crossed could have inherited the
same recessive allele from a common
ancestor. A homozygous recessive
individual could show some severe
abnormalities.
Another drawback of this
homogeneity (homozygous genotype) is
seen in the susceptibility of some plants
and animals to disease. The hazard of
losing a whole crop to blight or an insect attack may be increased.
Another method of selective breeding to ensure a quality crop or herd uses
a different approach. In hybridization,
two completely different parents, each
homozygous for a different desirable
trait, are crossed to produce a heterozygous plant or animal. Breeders
hope that the resulting hybrid will exhibit the desirable traits of both parents.
Hybridization or outbreeding has been
used extensively in the production of
high quality corn crops. The drawback
for the farmer is that seed must be purchased from the supplier every season.
In plants or animals when different
strains or species are crossed, the resulting offspring often show combinations of desirable traits (increased size,

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increased yield, quick development, etc.).


This tendency is termed hybrid vigour
to indicate the advantages that the hybrid offspring may gain because of their
genetic variability.

Genetic Screening
Genetic screening is used to identify
those individuals with an increased risk
of inheriting a disorder. This increased
risk is often tied to a group of specific ethnic background because these individuals share a common genetic background.
Screening may involve karyotype studies,
or biochemical tests. In many cases individuals heterozygous for a disadvantageous gene can be determined. Once this
information is obtained, appropriate
counselling or treatment can be given.
Huntingtons disease is a lethal disease inherited as an autosomal dominant trait. The disease does not appear
until after the affected individuals are in
their thirties or forties. When the disease does appear, the affected individual has often produced offspring. The
gene will be passed on to half of the offspring who will grow up with the knowledge that they may develop this
devastating disease. Geneticists can now
identify people who will be affected with
Huntington disease by testing for a genetic marker on the chromosomes.
This genetic screening technique has
advantages and disadvantages for the
families involved. To know that you will
develop a lethal disease at an early age
may have a greater negative effect on a
persons life than to be faced with a 50%
chance of the disease.

INFOBIT
A continuing low level of
thyroid hormone will result in
effects on mental development
in a developing child. Dr. Jean
Dussault and his colleagues
at Laval University have
developed a simple screening
test for newborns that detects
congenital hypothyroidism
and so allows treatment to
prevent developmental effects.

Genetic Counselling
Genetic counselling is offered at regional
genetic centres. The counsellor provides
and explains genetic information to educate patients and family practitioners
about both common and unusual genetic
conditions. This process offers non-directive counselling to many prospective
parents and to families with affected children. These groups can then make
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A Screening
Success Story
Hemochromatosis
Hemochromatosis is an autosomal recessive trait involving the protein that
controls iron absorption. Scientists
have recognized that 1 in 10 people
of northern European descent are
carriers of this defect. Symptoms appear in adulthood after years of high
absorption of iron in the intestine.
This iron is then deposited in excessive amounts in the liver, heart, pancreas, and other organs. This leads
to tissue damage and, if left
unchecked, death. It was first recognized in 1865 in patients who had
diabetes, cirrhosis, and increased
skin pigmentation (brought on by the
iron deposits). Once the problem is
identified, effective treatment is available, so it is important to test for this
condition.
The gene responsible for this defect was identified on the short arm

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of chromosome 6 in the mid-1990s.


This discovery has resulted in an
increased accuracy of diagnosis and
the effective use of population screening. In addition, it has helped researchers in their efforts to
understand iron metabolism.
Hemochromatosis is caused by
one of two missense mutations involving simple nucleotide replacements in the DNA. In one case the
nucleotide guanine has been replaced
with adenine at nucleotide 845 and
in the other the nucleotide cytosine
has been replaced with guanine at
nucleotide 187. In either case the alteration results in a non-functional
protein.
In the past, doctors relied on the
measurement of iron levels in blood
serum to identify suspected cases of
hemochromatosis. However, this was
often confusing as other conditions
could cause similar effects. Liver
biopsies (where a small piece of liver
tissue is removed surgically) sometimes led to complications but were
necessary to identify affected individuals. Today, genetic tests done
on a small sample of blood are readily available and allow effective iden-

informed decisions about child rearing or


child bearing. The importance of the genetic counsellor becomes obvious if you
consider that about 5% of all births produce a child with physical or mental problems of varying severity. These problems
could be present at birth or could develop
later in life. Genetic counsellors have received special training in screening and
testing methods and are skilled in counselling and educating.
Today, genetic counselling is often obtained by people in one of the following
risk groups:
Pregnant women, 35 years or older,
because of the increased risk of bear-

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tification for many people, so that only


a few require liver biopsies. In the future, screening of whole populations
may be a cost-effective way to identify individuals prior to the onset of
this disease and subsequent tissue
damage. A population screening program for hemochromatosis has been
started in England because of the high
incidence of the disorder in the population. These types of programs will
most likely spread to other countries.
Once the correct diagnosis has
been established, the patient begins
therapy: a simple, inexpensive, and
safe treatment. Treatment involves
the removal of approximately 500 mL
of blood from the affected individual once a week in a process called
a phlebotomy. This lowers the iron
levels in the blood as this sample
would contain approximately 250 mg
of iron. Over time this decreases
excess iron stores and the frequency
of phlebotomy can be reduced.
Studies of this genetic abnormality will undoubtedly lead to a better understanding of iron absorption
and metabolism in this disease and
others involving iron metabolism.

ing a child with chromosomal abnormalities (especially Down syndrome).


Parents who have already produced
a child with a genetic abnormality.
Parents who have other family members with a genetic abnormality.
Couples from ethnic or racial groups
with a high risk for a specific genetic
disease (Tay Sachs, thalassemia and
sickle cell anemia). Often, carrier tests
can be used to identify two carrier
parents who could have an affected
child. Carrier screening tests have
been developed for the diseases mentioned above.

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The genetic counsellor must obtain


extensive background information about
a given family before appropriate counsel can be given. This background may
include the following:
1. The nature of the birth problem in
question
2. A family pedigree going back two or
more generations
3. Results of the examination of the affected individual (and sometimes
other family members) by a clinical
geneticist, a doctor specializing in
genetics
4. An assessment of the extent of the
role of the environment to clarify the
cause of the disorder. Environmental
influences can sometimes produce
what appears to be a genetic defect.
5. Results of laboratory tests if
appropriate
A diagnosis of the disease and the
probabilities involved must be clearly

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Image omitted due to copyright


restrictions.

FIGURE 7.33 Genetic counsellors provide a


great deal of useful information to couples who
wish to have children. They are especially helpful
for parents who may be at risk.

identified by the counsellor. When the


genetic studies are completed, the

Image omitted due to copyright restrictions.

FIGURE 7.34 These genetic technologists are working in a typical genetics lab.

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WEBLINK
Explore the Web to find out
about genetic services that are
available in your community
and Canada-wide. Identify the
hospitals in your area that have
counselling services. What
genetic problems are screened
for in prenatal tests at
these facilities? Begin your
research at
www.pearsoned.ca/biology11.

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counsellor can assist other medical personnel in providing the family with a more
complete and realistic view of the situation. Once the nature of a problem has
been identified and the probabilities of recurrence and other implications have been
discussed, the family can then make more
informed choices about child bearing.
As we gain more knowledge about
genetic conditions and their transmission, the education of family practitioners becomes more important. A
knowledge of genetics and the gathering of family histories from patients by
family doctors becomes critical in recognizing potential problems and helping
families to get appropriate counselling
and treatment. Genetic counsellors at regional genetic centres can help educate
family doctors to make them effective in
this role. For example, most family doctors today monitor families with a
predisposition to cancer. Studies have
shown that some individuals have an increased chance of contracting cancer due
to their heredity. The monitoring of families with a history of breast or ovarian
cancer in women or colon or prostate
cancer in men is useful to identify people who are at increased risk for cancer.
This valuable information is instrumental in the early diagnosis and prevention
of cancer in these individuals.
Clearly, accurate genetic information
is of use in making many significant decisions. Most of the screening performed
today is to identify those at risk during
pregnancy and to outline the reproductive options. However, many scientists
suggest that screening techniques may
someday allow us to construct a
genetic profile of every individual. It has
been suggested that in the future this genetic prophecy may be used in making decisions about occupations or in
avoiding potentially harmful environments that might turn on undesirable genes.
Some groups that provide support
to individuals with genetic problems and
their families have concerns. They fear
that someday funding to support these

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individuals may be cut off or reduced if


society perceives that certain defects
should never occur if proper screening
techniques are used. This would raise a
very sensitive issue. How would an individual with a genetic problem (whose
parents chose not to be screened) feel if
society suggested that their condition
should never have occurred and that
they are financially responsible for their
own care?

Prenatal Diagnosis
Prenatal diagnosis involves the testing
of the fetus to check for a problem for
which the family is at risk.
The most widespread technique of
prenatal diagnosis, amniocentesis, is
usually performed during the sixteenth
week of pregnancy. A small amount of
the amniotic fluid that surrounds the developing fetus in the uterus is obtained
by inserting a needle through the
mothers abdominal wall. This fluid also
contains fetal cells that may reveal a
great deal of information about the fetus.
(Figure 7.36). Doctors use another technique called ultrasound (Figure 7.35) to
locate the position of the fetus and placenta to prevent any injury to the mother

Image omitted due to copyright


restrictions.

FIGURE 7.35 This image of the fetus was created on a computer screen when high-frequency
sounds from an ultrasound scanner held against
the mothers abdomen bounced off the fetus.

Contents

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or fetus when the needle is inserted.


Ultrasound is also useful in visually identifying a large number of physical
anomalies. The technique of amniocentesis has been developed to the point
that it carries very little risk for the
mother or child.
The fluid obtained in the sample is
analysed biochemically. An elevated level
of alpha-fetoprotein may indicate the
presence of a neural tube defect such as
spina bifida. Children with spina bifida

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are born with part of the spinal cord exposed along the backbone. The cells obtained in the sample are grown in tissue
culture for subsequent biochemical and
chromosomal analysis including karyotyping. Problems such as trisomy 21
(Down syndrome) would be identified in
this testing. About half of the tests performed today are for mothers over 35
years of age. About one-third of the tests
performed involve the use of Maternal
Serum Screening. The remainder of the

1. AMNIOCENTESIS
1416 week fetus

centrifugation

DNA testing
amniotic
fluid withdrawn
several
weeks
later

fetal cell culture


placenta
uterus

2. CHORIONIC VILLUS SAMPLING


912 week fetus
1. Results of biochemical tests
2. Karyotype

1
fetal cells
suctioned from
chorionic villi

17

18 19

1 day later
10

20

FIGURE 7.36 Two methods of prenatal testingamniocentesis and chorionic villus

11

21

12

13

22

This fetus has 3 copies


of chromosome 21
(Down syndrome)...

14

15

16

X Y
...and is a male

sampling

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tests are for individual family situations


based on a previous child with a detectable problem or on a family history.
Over 95% of the women at risk who
use amniocentesis find that their unborn
fetus does not have a genetic problem.
Thus in the majority of cases this technique offers reassurance to couples. If a
defect does exist, action may be taken
during pregnancy or soon after birth to
optimize delivery care and medical care
of the child. Although amniocentesis
does not guarantee a normal child, it
has added a new dimension to genetic
counselling.
An alternative to amniocentesis,
chorionic villus sampling, was developed in the 1980s. In this technique performed in the tenth week of pregnancy,
some of the cells from one of the membranes surrounding the fetus are
removed and analysed. Results of this
test can be obtained within one to two
weeks. Inconclusive results and an increased chance of miscarriage due to the
procedure compared to amniocentesis,
have reduced the frequency of use of this
technique. It is used for pregnancies that
have a high risk (greater than 25%) of a
severe genetic condition.
A less invasive testing procedure
known as Maternal Serum Screening
(or MSS) has been available since 1993.
This blood test is done on pregnant
women between the sixteenth and twentieth week of pregnancy and can be arranged through a doctor or midwife.
MSS is used to gain information about
the chance of a baby having Down syndrome, trisomy 18, or an open neural
tube defect. If the fetus has any of these
defects, it will produce abnormal
amounts of certain hormones that will
cross the placenta into the mothers circulation. These unusual levels can be
measured simply by testing a sample
of the mothers blood. In most cases
the levels of the hormones are in the
normal range and so a screen negative
result is produced. If the levels are
abnormal, a screen positive result, then
there is an increased chance that the

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child may have one of the three defects


targeted. In these cases an amniocentesis or ultrasound is then offered to find
out if the baby really has one of these
problems. MSS has provided yet another
tool for geneticists and prospective parents to gain useful information about a
pregnancy.
As our knowledge of the human
genome expands, prenatal tests will
become more sophisticated and informative. Screening techniques may someday be available to analyze the genetic
makeup of all individuals and not just
those at risk. If this happens, society has
to decide on the most appropriate application of the technology.

Recombinant DNA
One of the most amazing results of our
increased understanding of the gene has
been the development of recombinant
DNA techniques. These techniques allow
scientists to equip an organism with
DNA that is not normally found in that
organism. This new information, which
has been introduced into the host, can

Image omitted due to copyright


restrictions.

FIGURE 7.37 These small circular segments of


DNA called plasmids that are not part of the bacterial chromosome, have been extremely useful
in recombinant DNA techniques.

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then be used to cause the cell to produce


a specific protein. Simple organisms
used as the host, like bacteria, tend to
reproduce quickly. Thus, the protein can
be produced in large quantities.
Although this procedure was first performed with viral genes being inserted
into a bacterial host, scientists quickly
extended this transfer to inserting
human genes. One of the first successful transfers involved the human gene
for insulin production. Follow Figure
7.38 as you read the outline of this technique.

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A segment of human DNA containing the insulin gene is isolated in the lab.
At the same time a circular molecule of
DNA called a plasmid is removed from
an E. coli bacterial cell (see Figure 7.37).
The two strands of DNA are now cut
using a type of chemical scissors called
a restriction enzyme. These sophisticated enzymes recognize specific sequences of nucleotides along the DNA
strand and break the chemical bonds to
snip out a length of DNA. Scientists have
developed over 1000 different restriction enzymes to date. The specific

Human cell containing


gene of interest

Bacterium

protein synthesis

plasmid
DNA

bacterial
chromosome

human protein
of interest
1. Use restriction enzymes
to snip gene of interest
from the isolated human
genome.

Use same
restriction enzyme
to snip plasmid.

2. Insert gene into plasmid


(complementary sticky-ends
will fit together).

recombinant DNA

transformation

3. Transfer the plasmid back


into bacterial cell.

replication
4. Let bacterial cells replicate.
Harvest and purify the
human protein produced
by the plasmids inside the
bacterial cells.

bacterial
clones

FIGURE 7.38 This method


was perfected in 1982 for the
human insulin gene.

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enzyme used in this procedure slices out


the insulin gene from the human DNA
and produces sticky ends on the E. coli
DNA that can recognize the ends on the
insulin gene. The sticky ends of the
two different DNA molecules are now recombined to form a single intact plasmid. This circular plasmid is then
inserted into another E. coli host cell.
When this host cell divides, the recombined plasmid is replicated. A huge number of E. coli cells can be produced, each
capable of producing human insulin.
This technique was perfected in 1982.
Once this gene was inserted into the E.
coli cell it turned the bacterial cell into
a mini-factory capable of producing
a cheap, endless supply of quality insulin
for diabetics.
Insulin was the first of many
important biological substances produced using recombinant DNA. Human
growth hormone (HGH) is produced in
a similar fashion today. This has replaced the traditional expensive technique of extracting this chemical from a
human source. The list of possible
applications of genetic engineering

Dr. Peter St. GeorgeHyslop and


Alzheimers Disease
Dr. Peter St. George-Hyslop is one of
the worlds top neurological researchers on Alzheimers disease.
Head of the Tanz Centre for Research
in Neurodegenerative Diseases, he
has personally discovered two of the
four genes that have been linked to
Alzheimers at his laboratories at the
University of Toronto. Dr. St. GeorgeHyslop is driven in his attempt to
understand and find treatments for
this disease that takes away the

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appears endless. Recombinant DNA is


now used extensively in the chemical,
pharmaceutical, and food processing industries. Many applications of recombinant DNA involve releasing genetically
altered organisms into the environment.
As a result, strict research guidelines
must be developed and enforced.
Recombinant DNA techniques have
been actively used in agriculture for
many years. There is debate continuing
between different sectors of society
and also different countries over the use
of genetically modified (GMO) foods.

Gene Therapy
Direct use of genetic techniques is part
of effective medicine today. Genetic
therapy is accomplished in one of two
ways. A normal gene product can be
given to an affected individual who
shows the symptoms of a disease. This
type of treatment is used extensively
today in treating the disease diabetes
with the normal gene product insulin. A
second method of therapy would be to
actually manipulate the abnormal DNA

ability to think and interact and


remember.
Alzheimers disease (known as
AD) affects approximately 300 000
Canadians today. Dr. St. GeorgeHyslops team of researchers are
striving to identify a gene that produces a protein that is thought to be
responsible for killing brain cells in
AD patients. He hopes that if the gene
can in fact be identified, then researchers can better understand how
it works and develop drugs to interact with the genes to halt the progression of the disease. The
identification of this therapeutic target would allow scientists to identify
potential AD victims in advance and
to begin treatment prior to the onset
of the disease.

Image omitted due to


copyright restrictions.

FIGURE 7.39 Dr. Peter St. GeorgeHyslop in his lab at the Tanz Centre for
Research in Neurodegenerative Diseases

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Dr. Barbara McClintock


1902-1992
Mendels work was not recognized at
the time that it was published. The
language that he used to explain
hereditary patterns was foreign to the
scientific community of his day. New
theories often meet with a great deal
of resistance. Another clear illustration of this pattern is seen in the work
of Barbara McClintock.
Geneticists initially thought that
the genome of any species was made
up of a fixed number of genes that
were arranged in unchanging sequences on the chromosomes.
McClintock presented a new view of
genomes. Barbara McClintock received her PhD from Cornell
University in 1927, took a research
position at the University of Missouri
in 1936 and came to the Cold Spring
Harbour Laboratories in New York in
1941. In 1945 she was appointed
president of the Genetic Society of

Image omitted due to


copyright restrictions.

FIGURE 7.40 Spotted kernels in corn.


This characteristic provided the first
demonstration that genes could move
through the genome.

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America and was only the third


female member of the National
Academy of Sciences. This was
unusual as university research and
appointments of this type were dominated by males.
McClintocks research focused on
making the connection between the
behaviour of chromosomes in a special type of crossing over and the phenotypic effects on corn kernels. She
was interested in explaining why
some corn kernels had a spotted
appearance even though all of the
cells in a kernel had the same genetic
makeup and so should have had the
same pigmentation. The spotted appearance meant that, in some of the
cells of the kernel, genes for pigmentation were being turned off.
After meticulous experimentation
McClintock reasoned that a controlling element could be transposed
from one place to another on a chromosome. These elements, or jumping genes, would insert themselves
into the chromosomes and influence the activity of the neighbouring genes, turning them on or off. The
influence of these transposable elements caused some of the kernels to
have no pigment or to have spots of
purple on white. McClintock presented her findings at a major
genetics symposium in 1951.
McClintocks elegant model was
based on many years of rigorous
experimentation and data collection
but the suggestion that genes could
move met with great resistance. The
geneticists of the 1950s paid little attention to her theory. A basis for
her explanation was provided as
techniques in genetics became more
sophisticated in the late 1960s and
early 1970s. By that time the genetic
material had been identified as DNA,
the code had been deciphered, and
methods to study individual genes
had been developed. Her jumping
genes, or transposons as they are
now called, had started to appear in
experiments involving other species:

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Image omitted due to


copyright restrictions.

FIGURE 7.41 Barbara McClintock, a


superb researcher, decades ahead of her
time.

bacteria, insects, and even mammals


including humans.
These transposons are thought
to have many influences in a wide
range of species. They obviously have
a role in gene regulation and help
explain the wide range of variation
seen in certain proteins (like the pigmentation in corn kernels). These
transposons have been linked to the
development of drug resistance in
bacteria. In these bacteria, the transposable elements for drug resistance
can be passed from one bacterium to
another. Transposons help create
genetic diversity and may cause rapid
evolutionary change. They may also
provide a mechanism for genes to
move from one species to another.
Current research is attempting
to make the link between these
elements and human disease. In fact
some geneticists have suggested that
up to 50% of mutations in our
genome may be attributed to transposable elements.
Unlike
Mendel,
Barbara
McClintock lived to see the significance of her work recognized and
received the Nobel prize in 1983 at
the age of 81.

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Image omitted due to copyright restrictions.

FIGURE 7.42 The effect of traditional gene therapy. Mice that have the gene defect for obesity, as shown on the left, can be injected with the normal gene product, leptin. These mice will eat less, burn more calories, and will not become
obese. This result is shown in the mouse on the right.

WEBLINK
Investigate how recombinant
DNA techniques are applied in
one of the following areas:
pollution control
mineral extraction
plant improvement
animal improvement
transgenics
Write a supported paragraph
on your chosen topic.
Begin your research at
www.pearsoned.ca/biology11.

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in a parent or offspring in order to better treat a disease. Techniques to employ this second approach are no longer
just theoretical possibilities.
One of the most exciting and longterm goals of genetic engineering is to
actually correct some hereditary defects.
This type of gene therapy (human gene
transfer) would involve inserting a
proper working copy of a gene into the
cells that lack the ability to produce their
own protein. In the case of diabetes this
would involve the transfer of the normal
gene for insulin production into the cells
of the pancreas that lack this gene so
that the diabetic could produce insulin.
This technique would involve inserting
the insulin gene into a vector, such as a
virus, that would carry the gene to the
site in the body that requires the correct
copy of the gene. This vector would then
insert itself into these cells and transfer the required gene. These cells would
now have the ability to produce their
own insulin. The key is to get the gene
transferred into the stem cells at the
correct site. Stem cells are capable of di-

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viding and are not yet producing the


product, insulin. For the therapy to be
successful the modified stem cells would
have to divide and the new cells would
have to become differentiated to produce
insulin over the persons lifetime.
To date, scientists have encountered
several difficulties in human gene
transfer.
It is very difficult to get the correct
copy of the gene into enough cells in
the right location in the body. Many
genetic defects affect more than one
organ or one system. Researchers
suspect that our first successes will
involve those defects that are restricted to specific organs or a single system.
Sometimes the immune system of
the human recipient will undergo an
immune response that reduces the
effectiveness of the gene transfer.
There are problems getting the new
cell line to continue dividing and
producing the new protein.
In spite of these roadblocks, researchers
are enthusiastic about the potential of
gene therapy.
Some success has already been
achieved in treating Adenosine
Deaminase deficiency (ADA), a genetic
defect that involves a key protein in the
immune response. Children affected with
ADA cannot survive outside a sterile environment. They must be isolated in an
enclosed and carefully monitored chamber. Several documentaries have dealt
with bubble boy, a term derived from
the plastic chamber in which ADA children used to live. Now there is a partial
treatment of ADA, the first genetic condition to be treated by gene therapy.
Experimental therapies involving the removal of stem cells from the bone marrow followed by gene insertion and
reimplantation have been successful.
Several ADA patients have been able to
live nearly normal lives.
The availability of gene therapy techniques in humans will raise many social
and ethical issues. The greatest challenge

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will be to decide the extent to which


these techniques are used. Many ethicists feel that once we have the potential to alter human inheritance, these
techniques may be abused.

The Human Genome Project


The Human Genome Project will ultimately map the location of somewhere
between 30 000 and 35 000 genes on
the chromosomes of the human genome.
In addition, the sequence of the bases
(A,C,G, and T) in the nucleotides of the
DNA comprising each gene will be catalogued. The project began in 1990 and
now involves the co-ordinated efforts of
at least 40 countries. The development
of specialized sequencing machines
(Figure 7.43) and the input of funds
from companies anticipating the commercial applications of this information
have ensured the progress of the meticulous research. As a result, the completion of the project is ahead of
schedule, with the rough draft of the
human genome published in 2001. The
finished sequence should be available
sometime in 2003.
The rough draft outlines approximately 95% of our genome and has identified many interesting and surprising
facts. The list below outlines some of the
information released in the initial draft.
The distribution of genes on the
human chromosomes is surprising.
Our functional genes are concentrated at specific places in our
genome, with other large regions
simply containing so-called junk
(or non-coding) DNA. These areas
that serve no apparent purpose
comprise 50% of our genome, a very
high percentage when compared
to other organisms like the worm,
C. elegans (7%) and the fly,
D. melanogaster (3%). See Table 7.4
on page 222.
It was originally thought that we had
approximately 100 000 genes in our
genome. Current estimates put this
number at somewhere between

Image omitted due to copyright restrictions.

FIGURE 7.43 Sophisticated


sequencing machines have helped
scientists complete the Human
Genome Project ahead of
schedule. The insert shows a computer screen with a sequence of
base pairs forming part of the
human genetic code. Each
coloured band represents one of
the four nucleotide bases.

30 000 and 35 000. This is only


twice as many genes as the worm or
fly. How can we explain human complexity with so few genes? Scientists
are suggesting that individual genes
may be somehow responsible for the
production of more than one protein
and that the interaction of our genes
is more sophisticated than that of
other organisms.
More than 200 genes in the human
genome are similar to genes in
numerous types of bacteria, suggesting that there have been several
different gene transfers from different forms of bacteria during recent
evolution.
Scientists have been able to identify
the ratio of mutations in males versus females by studying the X and
Y chromosomes. They found that the
ratio of mutations in males versus
females is 2:1.

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Different regions of DNA have sequences that are almost identical to


one another even though they may
be far apart on a given chromosome
or even on different chromosomes
altogether. These repeated sequences
are the result of transposable elements that have spread by inserting
copies of themselves in various
places in the genome. As much as
50% of our genome may be derived
from these transposable elements.
The human genome is now estimated to contain 3 164 700 million
code letters (nucleotides).
Recombination rates appear to be
higher towards the ends of chromosomes and also on the chromosomes with short arms. The rate of
crossing over has been estimated as
one crossover per chromosome arm
in each meiosis.

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The completion of this project does not


mean scientists now have a complete
understanding of our genetic traits.
This simply means that we know the
location and code of each gene. The
ultimate goal of the geneticist is to understand the relationship between
genotype and phenotype. This will increase the understanding of disease.
What alterations in the code cause disease and why? Why are some alterations harmless while others are so
detrimental? Using this Book of Life
to find the answers to these questions
is the work of the twenty-first century.
The human genome is not the first
genome to be analyzed. Geneticists have
outlined the gene sequence in numerous
organisms starting with yeast in 1989.
Table 7.4 summarizes the sequencing of
several organisms and the possible
applications of this knowledge.

TABLE 7.4 The Sequencing of Genomes

Organism

222

S. cerevisiae
yeast

E. coli
bacteria

C. elegans
worm

D. melanogaster A. thaliana
fruit fly
thale cress

H. sapiens
human

M. musculus
mouse

Sequencing
1989
process began

1991

1990

1999

1996

1990

1999

Sequencing
process
completed

1996

1997

1998

2000

2000

2003
rough draft
available 2001

2005

Number of
chromosome
pairs

16

single
prokaryotic
chromosome

23

20

Number of
base pairs

12 million

4.6 million

100 million

180 million

119 million

Approx.
3 billion
3 164 700 million

Number of
genes

6 241

4 405

19 000

13 600

25 500

Approx. 30 000 Approx.


35 000
40 000

Possible
applications

Knowledge of
genetic
function

Used in gene
Shows how
splicing to
genes construct
transfer human tissues
insulin gene

Used in more
advanced
methods of
gene
sequencing

Allows us to
improve
nutritional
value of crops

May lead to
ability to
eliminate
genetic
conditions

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Genetic Continuity

Used as
models for drug
tests on genetic
conditions

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Cloning
There are different levels of cloning. The
production of insulin by bacteria is a
method of gene cloning as all the bacteria have the same new foreign gene in
their cells. Biologists often grow cells that
are identical to each other for studies of
cell processes. These are cellular clones.
Today, biotechnology in combination
with reproductive technology is being
used to produce clones of whole organisms by transfer of a complete nucleus.
This is nuclear cloning. The resulting
clones are identical to each other in
terms of the DNA found in their cells.
One of the more successful groups
headed by Ian Wilmut of Scotland produced the widely publicized Dolly in
1997. Dolly was the first mammal cloned
from the cells of another adult mammal.
Dolly was produced using the following method:

Cells from the udder of a six-yearold sheep were cultured in the lab.
An egg cell of a second sheep was
extracted and its nucleus was
removed.
The enucleated egg was then placed
beside one of the nucleated udder
cells in a Petri dish.
A small electric change was passed
through the egg cell and the two
cells fused.

Image omitted due to copyright


restrictions.

FIGURE 7.44 Dolly, the first


mammal produced by nuclear
cloning

The egg cell now behaved as if it had


been fertilized by the normal means
and began dividing. The DNA (from
the mature udder cell) was somehow reprogrammed by the proteins
in the egg cell to direct the normal
development of an embryo.
The embryo was put back into a surrogate mother sheep.
Dolly was born 21 weeks later.

Dolly is the identical clone of the sheep


that donated the DNA from the udder
cells. One area of concern with this type
of nuclear cloning is that Dolly is aging
at the same rate as the sheep that donated the nucleus from the udder cell,

surrogate
mother

udder cells
1

DNA
5

2
4
6

egg

3
Dolly

FIGURE 7.45 Cloning Dolly. An udder cell 1 from a white sheep and an enucleated egg 2 from a black sheep were 3 stimulated with an electric current. Fusion
4 occurred. The embyro was implanted in 5 a surrogate mother. Dolly 6 was
born.

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Investigation
Refer to page 228,
Investigation 1.

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rather than at the rate of a sheep born


on the day Dolly was born.
Since the birth of Dolly, Wilmut has
extended this technique to include
recombinant DNA. He inserted the
human gene for clotting Factor IX, a
chemical missing in one type of
hemophilia, into the sheep DNA donor
cell. The resulting clone that was produced, named Polly, now produces this
human protein. The production of this
type of transgenic clone is thought to
have extensive applications in both the
production of human chemicals and in

DNA Profiling
In the mid-1980s a British geneticist
named Alec Jeffreys developed a new
method of identifying people on the
basis of their DNA. Each person has
nucleotide sequences that are repeated many times at different locations on the chromosomes. These
repeat sequences dont code for any
protein and vary from person to person. The identity process of DNA
profiling or fingerprinting has now
replaced to a great extent the use of
blood types to convict criminals or to
identify fathers in paternity cases.
The steps in this process are:
1. A DNA sample is removed from
some nucleated cells. A very
small sample of semen, saliva,
hair roots, or blood can provide
sufficient DNA.
2. The DNA sample is treated with
restriction enzymes to cut the
DNA into pieces of varying

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Genetic Continuity

3.

4.

5.

6.

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the use of animal organs for human


transplantation. Recombinant DNA techniques could be used to remove the
sheep genes for proteins that would
cause organ rejection in transplantation.
These genes could be replaced with
human genes that would be compatible
with the genes of an organ recipient. The
use of animals for this purpose and the
potential to clone humans raise many
questions about the ethics of such practices. Still more questions will be raised
as more technologies are developed.

lengths. The size of these pieces


will vary with the lengths of the
repeat sequences that the DNA
donor possesses.
The pieces of DNA are run
through a process called gel electrophoresis. This separates the
numerous DNA fragments based
on their length. The smaller fragments migrate further in the gel.
This arrangement of pieces with
the order intact is transferred to
a sheet of nylon.
The nylon is treated with
radioactive probes. These probes
are sequences of DNA that
will recognize complementary
sequences in the segments on the
nylon.
An X-ray film is exposed to the
nylon, with the radioactive probes
showing the location of the different segments. A pattern that looks
like a bar code is produced that is
unique to the individual tested.

Figure 7.46 shows how DNA


profiles are used in forensic investigations. The profile from DNA in the

bloodstain labelled in Figure 7.46 is


compared to a number of profiles
from different individuals. One of
these profiles, number 3, is a clear
match to the bloodstain profile.

FIGURE 7.46 Evidence of a match. Only


one of the DNA profiles matches that of
the bloodstain profile.

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Decision-Making Skills

Case

Defining the Issue


Developing Assessment Criteria

Study

What Genes Can Tell Us

Researching the Issue

Analyzing Data and Information

Proposing a Course of Action


Justifying the Course of Action
Communicating Your Proposal

B A C K G R O U N D I N F O R M AT I O N

Huntingtons disease is a neurological disorder that affects portions of the central


nervous system that regulate movement,
intelligence, and behaviour. Onset of the
disease usually occurs at about age 40, and
the average life expectancy of a person with
Huntingtons disease is 55 years.
Huntingtons is an inherited disease
caused by an autosomal dominant trait.
The gene for the disease is passed from
parents to offspring from one generation
to the next. There is a 50/50 chance that
offspring of a parent with the Huntingtons
gene will manifest the disease. A test is
available that will indicate if an individual
will get the disease by identifying a genetic
marker on chromosome 4. The test cannot indicate when onset of the disease will
occur.
For individuals who are at risk for
Huntingtons disease, the decision whether
or not to take the test may be a difficult one.
They have to consider the impact positive
test results will have on their lives and
the lives of their loved ones. In addition,
the test is very expensive and so cost may
be a factor.

Image omitted due to copyright restrictions.

FIGURE 7.47 A lab technician examines a DNA profile. Sophisticated


profiling techniques allow identification of individuals who have the gene
for Huntingtons disease.

Analyzing the Issue


1.

Identify the issue presented to a person who is at risk


for Huntingtons disease.

4.

Complete a risk/benefit chart to summarize your


research.

2.

Research Huntingtons disease, focusing on symptoms,


treatment, and the social impact of the disease.

5.

3.

When a person at risk for Huntingtons decides to take


the test, who are the people who will be impacted by the
test results?

Write a personal opinion piece, explaining what you


would advise someone at risk for Huntingtons disease
to do.

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The Ethics of Current


Practices
The techniques and practices discussed
in this section have the potential to alter
and direct the path of evolution in many
species of organisms, including our own.
Genetic manipulation can bring about
sudden and significant changes in an organisms characteristics. Many ethicists
today say that we have no right to alter
the genetic makeup of any species.
There is no guarantee that use of this
technology will produce change that is
in the best interest of the species, or of
other species with which the altered
species interacts. The complexity of the
interactions of genes means that altered
organisms could have the potential to
cause great harm. For this reason, strict
regulations now control the type and extent of recombinant DNA technology permitted in the lab.
Our society has far more information about the genetic makeup of species
than ever before. The Human Genome
Project and the advancement of improved identification techniques may
soon give us a glimpse of individual
humans genetic potential and predisposition to disease at a very early age.
Do people want this information? For
example, although most cancers have no
obvious genetic link, about 10% of
women with breast cancer have inherited a gene that indicates a predisposition to breast cancer. Would these
women behave differently if they knew
they had this gene? Would they seek
more intensive medical monitoring than
if they did not know they had the gene,
or than if they did not have the gene at
all? Difficult questions also arise in relation to Huntingtons disease (an autosomal dominant disease). There is
currently no cure for Huntingtons disease. Most people manifest this serious
illness in their thirties or forties. Would
these people like to know that they will
become ill, or would they prefer to live
their lives without the knowledge of their
future?

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Human genetic information has


the potential to be misused. People could
be subjected to genetic discrimination or
bias on the basis of their genetic
makeup. Decisions about peoples opportunities are made every day. If peoples access to employment, education,
insurance, or medical treatment, for example, are made in relation to their
genetic makeup, ethical questions will
arise. In the 1960s sickle-cell carriers
were inappropriately denied insurance.
This practice has now been prohibited.
We naturally think of genetic information as private. Most people view the
idea of using genetic information as an
invasion of privacy. Yet the use of genetic
information could benefit society in some
instances. For example, England has
several hundred thousand DNA profiles
of individuals who have criminal
records. Some people believe that these
profiles should be actively used by police to solve crimes and to prevent future crime.
Government regulations do not always keep pace with the advancement
of biotechnology and commercial applications. Several current applications
have been developed prior to any consideration of the legal and ethical ramifications. Many countries are just now
outlining restrictions or bans on nuclear
cloning, well after the development of
this technique. New questions are being
raised every day. For example, a possible decision facing parents in the future
relates to the use of stem cells. Medical
research suggests that stem cells from
umbilical cord blood can be frozen and
used in future cancer treatment. Will the
freezing of stem cells be an option for
future parents? What will be the implications of their decision?
With the laboratory as a classroom,
researchers learn more and more every
day about how to interact with the genetic code to predict, prevent, and treat
disorders and diseases. These new technologies have the power to enhance the
quality of life. They also challenge our

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ethical beliefs and multiply the choices


we will face in our lifetimes. The view of
the future that genetic research provides

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brings with it the need for responsible


and ethical application of what we learn.

Section 7.3 Review


Understanding Concepts
1. Why is it advantageous to control
breeding in plants and animals?
2. How is inbreeding performed in
a) plants
b) animals?
3. List the problems that can result from
inbreeding.
4. Conduct research to find and describe
an example of hybridization in plant
and animal breeding.
5. Briefly outline three of the roles of
genetics in medicine.
6. What types of individuals are most
likely to consult with a genetic counsellor?
7.

Briefly explain how amniocentesis is


performed.

8. Write a supported paragraph on the


use of recombinant DNA today. How
might this process be used in the future to actually eliminate some hereditary diseases?
9. Outline the steps in each of the
following:
a) DNA profiling
b) recombinant DNA
c) cloning of mammals such as Dolly

Making Connections
10. Each of the following statements concerns an issue that society may have
to deal with as gene therapy and

genetic screening become more


commonplace. Read the four statements and select one. Make a pointform Agree/Disagree chart to consider
both sides of the issue. Once you have
completed this summary chart, write
a position paper outlining your position on one of the issues described. In
order for your work to be persuasive,
you must consider both the legal and
ethical aspects of the issue. In addition,
you should also discuss/dispel some of
the arguments that people with the opposing viewpoint would suggest.
a) Prospective parents who have a
family history of a genetic condition
that can be identified in prenatal
testing and are at risk should be required to undergo genetic screening.
b) Ultimately you would hope all parents would take advantage of
screening techniques in an effort to
reduce the frequency of children
born with genetic abnormalities.
c) As long as there are strict guidelines
controlling gene therapy, society will
not have to be concerned about
abuses of this technology.
d) Private biotech companies that have
invested millions of dollars in the
Human Genome Project have a right
to obtain patents for specific gene
sequences. Other private companies
or research facilities should have to
ask permission or even pay to use
this information in their studies.

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Inquiry Skills

Investigation 1

(Section 7.3)

Gel Electrophoresis Simulation


The application of gel electrophoresis was described
for the production of DNA profiles. This technique can
also be used to determine the size of fragments from
digested samples of DNA. This type of information has
helped in analyzing DNA and in the ultimate sequencing of DNA. The following exercise is a simulation of this technique.
Gel electrophoresis combines the techniques of chromatography and electrophoresis. DNA samples that
have been treated with restriction enzymes, that split
the DNA into fragments of varying size, are loaded in
wells at one end of a sheet of gel. This gel is usually
made of agarose, a naturally occurring substance
extracted from a type of seaweed. An electric field is
applied to LAL1
the gel, and the DNA fragments migrate
across the gel from the cathode (negative end) towards
the anode (positive end). Macromolecules separate
according to their molecular weight and charge. Small
fragments move farther through the microscopic pores
in the agarose gel. The gel contains a stain that causes
the DNA fragments to show up and a striped pattern
results. This technique is summarized in Figure 7.48.
The movement of a DNA fragment of a specific
size will be constant if the conditions of electrophoresis are the same (that is, voltage applied, gel type and
concentration, and time allowed). Scientists have collected data on DNA markers, samples that have been
digested by restriction enzymes into fragments of
known size. The length of these fragments is described
as a number of base pairs (bp) for small fragments or
kilobase pairs (kb = 1000 base pairs) for larger ones.
Under set electrophoresis conditions, these known
fragments will have the same relative mobility value
(Rf) that is calculated using the following equation.

Rf =

distance that the DNA fragment travels from


the start (at the well in the gel)
distance from the start to the end point of
the gel

Information from these markers is used to plot standard curves on semi-log graph paper. The fragment
size (in bp or kb) is plotted vs. the Rf value of these
DNA segments of known size. The curve is used to
determine the size of unknown DNA fragments.

Initiating and Planning

Applying Technical Skills

Using Tools, material, Equipment

Conducting and Recording

Analyzing and Interpreting

Concluding and Communicating

Problem
How many base pairs (bp) are present in DNA fragments that have undergone gel electrophoresis?

Materials






ruler
calculator
note paper
scissors
standard curve of fragment size

Procedure
1. On a blank sheet of note paper, construct a scale
down the left-hand margin. Your scale should start
with 0 cm at the top of the margin. This will represent the negative electrode where the sample wells
are located at the start. Run your scale down the
margin to 20 cm, which will represent the end point
and positive end of the electrophoresis process. Place
a horizontal line across your page at the starting
point and at the end point.
2. Cut a strip of paper 1 cm wide and 15 cm long. This
represents your unknown DNA sample. This sample has been treated with a restriction enzyme and
has been split into five fragments. Cut your sample
into five fragments with the following lengths:
Fragment # 1 5.6 cm
Fragment #2 4.4 cm
Fragment #3 2.2 cm
Fragment #4 1.7 cm
Fragment #5 1.1 cm
3. Following gel electrophoresis these fragments have
arranged themselves on the gel the following distances from the start (that is, from the wells at the
top of your page).
Fragment #1 7 cm
Fragment #2 8 cm
Fragment #3 11 cm
Fragment #4 12 cm
Fragment #5 14 cm


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(continued)

mixtures of DNA
fragments of different sizes

FIGURE 7.48 Three samples of DNA have been treated with different combinations of restriction enzymes and have been placed in the wells at the top of the
gel. When an electric charge is applied to the gel, the fragments migrate through
the pores with the smaller fragments travelling farther down the gel. The completed
gel has three different patterns of fragments because different restriction enzymes
have been used on the three samples.

cathode

long fragments
gel
power
source

glass
plates
short fragments
anode

completed gel

Analzing and Interpreting

Concluding and Communicating

1. Describe the general trend that you observe for


the arrangement of your fragments on the gel.
2. Calculate the Rf values for each of the fragments.
3. The graph in Figure 7.49 represents the standard
curve plot for the conditions of your gel electrophoresis. Use this graph to determine the size
(number of base pairs) of each of the five fragments
in your unknown sample.
4. How many base pairs were in the original sample
of DNA (your 15 cm strip of paper)? How did you
calculate this value?

5. Describe how this type of information is important


to scientists studying DNA today.
6. This technique can be used to study genetic variation in populations. A specific protein is extracted
from members of the same population and these
samples are subjected to protein electrophoresis.
The different molecular forms of the protein resulting from differences in genotype create bands at
different locations in the gel. By studying variations
at a number of loci, similarities in individuals in the
population can be studied. Describe several uses
of this type of information.

Extending

Fragment size (bp)

100 000

10 000

1 000
0.2

0.3

0.4

0.5
Rf value

0.6

0.7

0.8

7. Research gel electrophoresis to describe the


following:
a) specific details of the process and the equipment
used
b) different types of restriction enzymes and gels
and the type of testing in which they are used
c) applications of these techniques in genetics
8. The technique of gel electrophoresis is so precise
that it is possible to determine if the individual being
tested is homozygous or heterozygous. Discuss how
this fact might be applied in genetic studies.

FIGURE 7.49 Standard curve of fragment size versus Rf

value

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Inquiry Skills

Investigation 2

(Section 7.1)

DNA Extraction

Initiating and Planning

Applying Technical Skills

Using Tools, Materials, Equipment

Conducting and Recording

Analyzing and Interpreting

Concluding and Communicating

Many sophisticated biochemical techniques exist today


for the analysis of DNA. Techniques like DNA profiling
or the production of a karyotype that once appeared to
be quite complicated are now used extensively in society in medical and legal settings. The advent of sequencing techniques used in the Human Genome Project
has raised the level of biochemical analysis to new
heights. Regardless of what DNA manipulation is being
carried out, scientists must have samples of DNA that
have been extracted from the cells under study. In this
lab you will extract a DNA sample from an onion.

7. Insert a glass stirring rod into the tube and spool the
DNA onto the glass rod by slowly twirling the rod.
8. Place some of the DNA fibres on a microscope slide
and observe them under a microscope.
9. Place some of the fibres on blue litmus paper and
observe any colour change.
10. Place 10 mL of water in the third test tube and add
some of the DNA sample to the water using the glass
stirring rod. Stir the contents with the rod.

Problem

1. What purpose is served by cutting the onion into


very small pieces?
2. What effect does the extraction solution have on the
onion sample?
3. What does the filtering process tell you about the
DNA molecules?
4. Describe the appearance of the extracted DNA. What
physical features can you observe in the extract that
makes you believe it is DNA?
5. What happened when the isopropanol was added
to the liquid that passed through the filter? What
does this tell you about the behaviour of DNA?
6. What happens when you place some of the DNA
sample in water and stir it? What does this tell you
about the nature of DNA?
7. What happened when you tested the DNA sample
with the blue litmus paper? What does this tell you
about the nature of DNA?

How can we extract DNA from onion cells?

Materials LAL1





120 mL of water
1.5 g uniodized salt
5 g baking soda
5 mL shampoo (no
conditioner!)
 10 mL isopropanol
(chilled)
 scalpel
 1/8 of an onion






filter paper
glass Petri dish
250-mL beaker
3 large test tubes with
stoppers
 glass stirring rod
 blue litmus paper
 safety goggles

CAUTION: Wear safety goggles during the DNA extraction.

Procedure
1. Prepare the DNA extraction solution by mixing
the water, shampoo, salt, and baking soda in a
250-mL beaker.
2. Place the section of onion you have been given in
the Petri dish and cut into small pieces. Gradually
add water as you cut the onion to give the final
product the consistency of applesauce.
3. Place 5 mL of the onion mixture in one of the large
test tubes and add 10 mL of the DNA extraction
solution that you prepared in step 1.
4. Place a stopper in this tube and shake the tube vigorously for 2 minutes.
5. Filter the contents of the tube into another large test
tube. Keep the filtrate and discard the onion residue.
6. Add 10 mL of isopropanol to the liquid in this
tube and gently swirl the contents to mix the isopropanol with the contents of the tube. Long strands
of DNA should now start to appear.

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Analyzing and Interpreting

Concluding and Communicating


8. List the characteristics/features of DNA that are
identified in this investigation.
9. Describe the appearance of the extracted DNA if it
is heated.
10.Explain the effect of temperature in terms of the
viscosity of the DNA material.

Extending
11.Carry out research to identify the role of each of the
following substances used in this investigation:
shampoo, baking soda, salt, and isopropanol
12.Repeat this investigation with other plant sources
of DNA and compare the results and success rate
to those of the onion extraction.
Adapted with permission from Lets Talk Science, Partners in Science
Newsletter Vol. 2 Issue 2, 2000.

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C H A P T E R S U M M A RY
Key Terms
amniocentesis
autosomes
chorionic villus sampling
(CVS)
cloning
congenital defect
deoxyribonucleic acid (DNA)
DNA profiling
(fingerprinting)

double helix
Down syndrome
genetic counselling
genetic screening
genetic therapy
hemophilia
homogeneity
Human Genome Project

karyotype
Maternal Serum Screening
messenger RNA (mRNA)
mutagen
pedigree
plasmid
recombinant DNA
replication
restriction enzyme

selective breeding
semi-conservative
teratogens
transcription
translation
ultrasound

Essential Understandings


7.1 Genes, Chromosomes, and DNA













Chromosomes isolated from cultured cells can be


isolated, stained, and grouped in homologous pairs
in a chart called a karyotype.
Each species has a specific number of chromosomes
in all body cells.
In humans the male genotype is identified as XY
while the female genotype is XX.
X-linked traits like hemophilia affect far more males
than females.
Scientists are attempting to map the loci of specific genes on the chromosomes in gene maps.
James Watson and Francis Crick outlined the molecular structure of the chromosomal chemical, DNA
(deoxyribonucleic acid).
Replication is termed semi-conservative because the
halves of the DNA molecule are conserved, one in
each of the two chains of DNA produced.
DNA can produce a message during transcription
(mRNA) to direct cell activity outside of the nucleus.
The messenger RNA is translated at the ribosome
during protein synthesis.





7.3 Applying Our Knowledge of Genetics








7.2 Genetic Disorders and Pedigrees




A mutation may occur spontaneously or it may be


induced.
Genetic conditions like hemophilia are the result
of a single gene defect.
Genetic conditions like Down syndrome result from
an abnormal number of chromosomes.
In population genetics researchers study the frequency of a gene in the gene pool or the frequency
of a genotype in the whole population, rather than
in individuals or families.

Population genetics studies have identified an


increased risk of a Down syndrome birth in older
mothers.
Pedigrees are a very useful method of illustrating
family histories for specific traits.
The mode of inheritance of a particular trait can
often be determined by studying a pedigree
involving that trait.





Desirable combinations of traits can often be


obtained in agriculture using inbreeding or
hybridization techniques.
Inbreeding may result in the appearance of a rare
and sometimes severe genetic abnormality.
Genetic counsellors provide a valuable service for
prospective parents.
Amniocentesis, ultrasound, maternal serum screening and chorionic villus testing often provide valuable information about the fetus.
Recombinant DNA techniques are used to splice
together the genetic information of two different
organisms.
Recombinant DNA has allowed scientists to make
bacterial factories useful in the chemical, pharmaceutical, and food processing industries.
One of the long-term goals of genetic engineering
techniques is to cure genetic defects using gene
therapy.
DNA profiles have been extremely useful in convicting criminals.
The cloning technique used to produce Dolly may
have extensive applications in agriculture.
The current and potential applications of our knowledge of genetics raises many ethical issues.

Consolidate Your Understanding


1.

One of your focuses for this chapter is the consideration


of the ethics of genetic technologies that are available

CHAPTER 7

today. Outline five different issues that must be dealt with


when society pursues genetic biotechnologies.

Using Our KnowledgeC HofA Genes,


DNA
P T E R 7 Chromosomes,
Genetics andand
Society

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CHAPTER 7 REVIEW
Understanding Concepts
1. Harmful X-linked traits determined by a recessive gene
a) tend to appear in females only
b) do not skip generations
c) are usually not passed on from father to son
d) are usually passed on by carrier males
2. Which of the following statements about chromosomes
is true?
a) the greater the number of chromosomes, the more
complex the organism
b) different species of organisms have different diploid
numbers of chromosomes
c) the characteristics of a species are not determined
simply by the number of chromosomes but rather
by the specific information on the chromosomes
d) most organisms have less than 10 chromosomes
3. Humans possess
a) 22 pairs of sex chromosomes and 1 pair of autosomes
b) 23 pairs of autosomes
c) equal numbers of autosomes and sex chromosomes
d) 22 pairs of autosomes and 1 pair of sex chromosomes
4. The
a)
b)
c)
d)

farther apart linked genes are on the chromosome


the more frequent the crossovers
the less likely they are to be separated by a crossover
the less likely they are to assort independently
the greater the chance of a mutation

5. The
a)
b)
c)
d)

most important job of the genetic counsellor is to


decide if couples should have children
make decisions for prospective parents
decide who should have amniocentesis
provide useful information for parents

6. Which parent ultimately decides the sex of a child?


Explain.
7. Which type of genetic defect is easiest to identify in a
karyotype?
8. In a pedigree how would you recognize that a particular trait is inherited as an autosomal dominant trait?
9. Describe how the structure of DNA leads to its possible
self-replication.
10. List the negative effects of homogeneity.
11. How are inbreeding and hybridization different in terms
of the genotypes produced? When is it advantageous to
use each approach?

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12. Distinguish between the two types of genetic technologies, screening and therapy.
13. How have restriction enzymes been critical in recombinant DNA techniques?
14. Does amniocentesis guarantee a healthy baby? Explain
your answer.
15. What type of parental cross could produce a hemophiliac female?
16. Describe some surprising information that is being
released concerning the Human Genome. How is this
information creating a different view of the genome
when compared to our view prior to the release of this
information?
17. a)

b)

How many Barr bodies would you expect to find in


the cells of a Turner syndrome individual? Explain
your answer.
How many Barr bodies would you expect to find in
the cells of a Klinefelter syndrome individual?
Explain your answer.

18. Scientists were initially puzzled when studying the function of DNA by the ability of the DNA in the nucleus to
control the activity going on in the cytoplasm. They were
particularly puzzled by the fact that the DNA never left
the nucleus. How is this control feat accomplished?

Applying Inquiry/
Communication Skills
19. Colour blindness is inherited as an X-linked recessive.
A heterozygous (for eye colour) brown-eyed normal male
is married to a heterozygous brown-eyed, colour-blind
female. Use a Punnett square to determine the answer
to the following questions. Assume that a heterozygous
brown-eyed individual carries the recessive allele for
blue eyes.
a) What is the probability that they will have a daughter who is a carrier for colour blindness with brown
eyes?
b) What is the probability that they will have a son who
is colour-blind with blue eyes?
c) What is the probability that they will have a colourblind child?
20. A woman, who is a carrier for colour blindness, has 8
children, 4 boys and 4 girls. Each of her children marry
and have 8 children, 4 boys and 4 girls once again. Of
her 64 grandchildren, how many would you expect to
be colour-blind males according to probability? Assume

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that her marriage and her childrens marriages are with


people not carrying the recessive allelle.
21. An old man said to his grandson, One quarter of you is
me. Is this statement correct in terms of the genetics
involved? Explain.
22. In the fruit fly, Drosophila, red eye (R) is dominant to
sepia eye (r), and straight wing (S) is dominant to curved
wing (s). These genes are carried on different chromosomes. If a pure breeding sepia-eyed, straight-winged
fly is mated with a pure breeding red-eyed, curve-winged
fly, what phenotypes and genotypes will appear in the
F1? If two of these F1 flies are allowed to mate, what phenotypes will be observed and in what ratio?
23. Studies have shown that more male babies are conceived
than female. How might this be explained? Eventually
throughout childhood these numbers become the same.
Why is there a higher mortality of male babies prior to
birth and after birth?
24. Construct a model of the DNA molecule showing its chemical makeup. Your model should clearly illustrate how
this molecule contains a coded message.
25. Consider the trait of hitchhikers thumb, with phenotypes of curved and straight thumb. Construct a pedigree for your family outlining the inheritance of this trait
for as many related individuals as possible.
26. A pregnant woman, aged 37, is informed that there is
a 1 in 200 chance of her child having Down syndrome.
Why is this probability significant?
27. Tay Sachs disease is inherited as an autosomal recessive
gene and is a fatal disorder. You have been approached
by a couple who have lost a child to Tay-Sachs. There
was no history of this disease in their immediate family.
They would like to have another child but they are concerned about the appearance of this trait in a second
child. What advice can you give them about the chances
of this disorder appearing in a second child?
28. Produce a graph to illustrate the relationship between
maternal age and the incidence of Down Syndrome in
newborns. Choose the type of graph that will most clearly
illustrate this relationship.
29. A man with a Y-linked disorder has three sons and three
daughters with the same wife. His first son has two sons
and two daughters with his wife and the second son has
three daughters with his wife. Draw the pedigree for this
family. How could you tell if this disorder was Y-linked
or X-linked recessive by looking at the pedigree?

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Making Connections
30. A father has just been informed that his son has muscular dystrophy. The father works at a chemical plant
and suspects he has been exposed to a possibly mutagenic substance during an accident. He has approached
you for advice about the genetics involved. What recommendation would you make to the father if he asks
for advice about suing the chemical plant for his sons
medical costs?
31. Should genetic engineering be done on humans? Write
a paragraph to express your opinion.
32. Many of the biotechnology companies that are working
on the Human Genome Project have applied for patents
on the genetic information. In Britain, authorities have
denied all patent applications on the basis that no one
can have a patent on the information of a living organism. Do you think that companies should be able to
patent this information? Why or why not?
33. Research cystic fibrosis. Write a description of this discease under the headings:
a) cause
b) symptoms
c) rate of occurrence
d) prevention
e) treatment
f) support groups
34. Research one of the plant products listed below in order
to outline how genetic engineering has played a role in
the development of this product.
Canola
Potato
Corn
Soybean
Cotton seed
Squash
Flax
Tomato
35. Some learning disorders can be linked to genetic abnormalities such as fragile X syndrome. Some people
argue that these children would be better to have a karyotype test done to identify the genetic cause of the learning disorder. In this way the cause of the disorder has
been identified and the best path in educating these individuals can be pursued. On the other hand, some people suggest that when we assign a specific chromosomal
cause to the disorder then the classification of this
child may act as a roadblock to their opportunities. Which
argument seems to make more sense to you? Explain
your choice.

CHAPTER 7

Genetics and Society

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EXPLORING CAREERS

Communicating Your Skills


Genetics to careers in biology is what
the high-speed chip has been to careers
in the computer industry: a source of
incredible growth that seems to gain
momentum with every new discovery or
improvement in technology. There is
already a vast number of careers and
opportunities in biotechnology and
genetics. You can find lists of jobs on the
Internet. There are even glossy print
magazines filled with career advertisements for biologists in all sorts of
specialties.
Jobs. That means application forms
and interviews. Imagine you have graduated from university and are ready to
look for a job. Or youre taking the

co-op program at your university (a


co-op program is one in which you take
academic courses one term, then work
in a related occupation the next). You
can give a prospective employer a list of
your courses and marks, as well as an
up-to-date rsum of any work experience, but what you need is the ability to
talk confidently about your skills and
qualifications.

From Classroom to the


Workplace
Youve been asked to come for an
interview at the local hospital. There are
a wide variety of summer jobs available
for students, from cashier in the cafeteria to assisting in the laboratories to
helping with patients. You would prefer
a job helping with patients because
you are considering a career in
medicine. How could you talk about your
skills in a way that shows you would be
good at this type of job?
1.

Image omitted due to copyright restrictions.

Which of the skills listed on the next


page would be most important in
the job you want? (These are skills
you are developing in this biology
course.) Choose five you wish to
emphasize. For each of these skills,
write descriptive statements as if
you are:



FIGURE 1 Dress for success. When you are invited to an interview for any job,
arrive in neat, business-like clothing. The job itself may require you to wear jeans
and a lab coat, but this is not appropriate attire before you are hired. (Hint: If the
interview goes well, you might be offered a tour of the facilities. Depending on the
facilities, it may be wise to wear shoes that can take a little punishment.)

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Genetic Continuity

listing this skill on your rsum.


listing this skill in an email or
cover letter.
putting this skill in the section
titled Any Special Skills on an
application form.
talking about this skill in an
interview.

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Heres an example:
Skill:

communicating procedures and results

On a rsum:

experience using data tables, graphs, and other


formats to communicate technical information

In an email or cover letter:

I can communicate technical information clearly and


concisely, using a variety of formats.

On an application form (if asked):

communicating technical information

In an interview:

Im hoping for a job where Ill be helping with


patients and interacting with medical staff. One of
my strengths is communicating technical information,
which would help me understand instructions from
the nurses and record any observations required. I
have experience writing reports, making presentations,
and talking with others about procedures and results.
Im comfortable using a variety of tables and
graphs, including creating these on computers.

Look over your statements. You are talking about the same skill, but in each case
you had to adapt what you said to suit
how it was being presented. Sometimes,
as on the application form, you wont
have much room. So use clear, meaningful terms. In an interview, its your
opportunity to explain your skill in
detail, pointing out any aspects that will
show how that skill is important to the
job you want.

Looking Outward
2.

Most people find writing about their


skills a great deal easier than
talking about them, yet it is talking
that will make the difference
between getting that job or not. So
practise! Write statements like the
ones here, then practise saying them
out loud. Your family and friends can
be your first audience. Once you are
confident, find a neighbour or family friend who conducts interviews.
Ask this person to listen to how you
present yourself and your skills. Use

any advice to improve your


presentation for next time. This
could be your next job interview!

List of Skills
assembling
and using appa
ratus
communicat
ing procedures
and results
compiling an
d organizing da
ta
coordinatin
g tasks
decision-mak
ing
designing pr
ocedures
identifying va
riables
interpreting
patterns and tr
ends in data
problem-sol
ving
recording ob
servations
researching
topics under st
udy
selecting an
d using instrum
ents effectively
selecting an
and accurately
d using the ap
propriate grap
time manag
hi
ng
technique
ement
using approp
riate techniqu
es for handlin
posing of labo
g, storing, and
ratory materia
disls
working in
a team
working inde
pendently
working with
others

Exploring Carrers

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ACHIEVEMENT TASK
View Rubric

Genetics and Discrimination


Background Information
It is clear that knowledge of a persons genetic make-up may be useful in
making all sorts of decisions in areas ranging from childbearing to job selection. This genetic prophecy could lead to a new form of discrimination
in a society that places greater emphasis on genetics. It is possible that people could be denied educational opportunities or turned away from jobs
because of their genetic makeup. As our knowledge of genetics increases,
society will have to decide how genetic information will be used.

SCENARIO
You have been appointed to an ethics panel studying the many potential
applications of genetic research. You have been asked to comment on the
current status of one of the following genetic technologies and to provide recommendations to limit the potential for discrimination in future genetic research.

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The Human Genome Project

Genetic Engineering

Genetic Markers

DNA Profiling

Genetic Continuity

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Part A: Genetic Disorders


1.

Select one of the following genetic disorders


and describe the disorder according to the
following criteria: (1) chromosomes affected;
(2) physical effects; and (3) treatment.
cystic fibrosis
muscular dystrophy
fragile X Syndrome
Down syndrome

Next Section

Part C: The Future of Research


4.

What are the variables that influence public opinion on the continuation of genetic
research using this technology? Explain.

5.

Using your own research, complete a


risk/benefit analysis of the genetic technology with respect to its potential for
discrimination.

6.

Based on the information you have found,


make recommendations about the future of
genetic research.

Part B: Research Technology


2.

3.

Choose one of the technologies in the


scenario and research it according to the
following criteria: (1) define the technology;
(2) describe the technology involved; (3)
identify its potential uses or applications;
and (4) identify how information gathered
using this technology could be misused.
For the technology chosen, create a historical timeline of the discoveries in genetics
that have led to its development. On the
timeline, identify the individuals who have
contributed to these discoveries.

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Part D: Proposing a Course of


Action
7.

Write a recommendation that outlines


control mechanisms to limit the potential
discrimination that could arise from the use
of this technology. Use the following criteria for your recommendations: (1) include
a range of perspectives, both pro and con;
(2) include recommendations for testing of
future research and technologies; and (3)
look at the social, ethical, and economic
impact of the technology.

A c h i e v e m e n t Ta s k

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UNIT 2 REVIEW
Understanding Concepts
1. A sex cell that results from meiosis will contain
a) the diploid number of chromosomes
b) any given number of chromosomes
c) one of each of the homologous pairs of chromosomes
d) any combination of chromosomes that is the
haploid number
2. Aneuploidy often results from
a) duplication
b) crossing over
c) translocation
d) nondisjunction
3. The genes located at the same loci on homologous chromosomes are known as
a) autosomes
b) homozygotes
c) alleles
d) heterozygotes
4. Which pair of terms is most alike in meaning?
a) segregation, crossing over
b) heterozygous, hybrid
c) phenotype, genotype
d) recessive, dominant
5. An organism with the genotype AaBbcc would produce
how many different types of gametes?
a) 1
b) 2
c) 4
d) 8
6. If the diploid number of chromosomes is 30 for a given
species, how many chromosomes are present in a gamete of this species?
a) 1
b) 14
c) 15
d) 30

c)
d)

a chain of sugar and phosphate molecules


a sequence of peptide bonds producing a polypeptide

9. A knowledge of linkage and crossing over has helped geneticists produce


a) karyotypes
b) pedigrees
c) Punnett squares
d) genetic maps
10. One of the drawbacks to inbreeding techniques is that
sometimes:
a) severe mutations occur
b) abnormal numbers of chromosomes result
c) rare recessive traits can be found in the homozygous condition
d) resulting individuals are sterile
11. Why is meiosis necessary in organisms that reproduce
sexually?
12. In what two ways does meiosis encourage variability?
13. In humans, at the end of reduction division in meiosis:
a) How many cells exist?
b) How many chromosomes exist in each cell?
c) How many chromatids does each chromosome have?
14. How are homologous chromosomes the same? different?
15. Why is it advantageous for females to produce one large
functional egg in the meiotic process rather than four
smaller ones?
16. Why did Mendel propose each of the following ideas
when developing his theory to explain patterns of
inheritance?
a) He suggested that his pea plants possessed two factors for each of the seven traits studied (rather than
one).
b) He suggested that each pea plant passes on only one
of its two factors in its gametes (rather than both).
17. How is the phenotype of a hybrid different when the trait
shows dominance as opposed to incomplete dominance?

7. If you crossed a brown-eyed dark-haired homozygous


female with a light-hair blue-eyed male, given that dark
hair (A) and brown eyes (B) are dominant to light hair
(a) and blue eyes (b) respectively, and the genes are carried on autosomes, which of the following would be the
correct genotype of the offspring?
a) AaBb
b) Aabb
c) AaBB
d) AABb

18. Two parents who have the same phenotype for a given
trait produce an individual with a differing phenotype
for the same trait. How would Mendel have explained
this observation?

8. The Watson and Crick model indicated that the genetic


message is somehow determined by
a) the number of chromosomes in a body cell
b) a sequence of nitrogenous bases in the nucleotides

20. What must be true in order for geneticists to observe independent assortment? Explain why this must be true.

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Genetic Continuity

19. When long radish plants are crossed with round radish
plants, the resulting plants produce oval radishes. How
would you explain this observation?

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21. There is a wide range of continuous shades of skin


colouring in humans. How is this explained?
22. Why are there more men than women with colour
blindness?
23. A farmer has a bull that has a black coat, the dominant
trait inherited as a simple Mendelian trait. In this breed
of cattle white coat is the result of the homozygous
recessive condition. How would the farmer go about
determining the genotype of the bull?
24. There will be nothing left for genetic researchers to
study once the Human Genome Project is completed.
Discuss the validity of this statement.
25. Outline the two general approaches to gene therapy.
Which one of these has been used extensively in the past?
What roadblocks still exist in trying to accomplish the
other method of therapy?
26. In a certain plant grey seed colour (G) is dominant to
yellow seed colour (g). In the crosses shown in the chart
below the phenotype of the parent plants is known, but
their genotypes are not. The numbers of each phenotype
are recorded for the F1 generation. Identify the possible genotype(s) for the first parent given in each of the
following crosses.

Applying Inquiry/
Communication Skills
27. Use a series of diagrams to show how crossing over leads
to an increase of variation in genetic recombination.
28. Produce a table comparing sexual and asexual reproduction using the headings listed below.
a) number of parents
b) examples of this method
c) appearance of offspring relative to parents
d) advantages and disadvantages of this process
29. If a mother is blood type AB and produces a child with
blood type AB, list the possible genotypes of the father.
Which genotype(s) is (are) not possible? Explain why.

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30. A species of rabbit that lives in the harsh cold environment of the Himalayas normally has black fur on its ears
and feet. If this black fur is removed and the rabbit is
placed in a warmer environment, the hair that grows in
is not black. How would a geneticist explain this unexpected observation?
31. In fruit flies the genes for wing shape and body stripes
are linked. In a fly with the genotype WwSs, W is linked
to s and w is linked to S. How could this fly produce
gametes with four different combinations of alleles?
Identify which of these combinations would be termed
parental and which would be termed recombinants.
32. A knowledge of probability is important in any analysis
of genetic crosses.
a) If a couple has five children, what is the probability that they will have five sons? (Assume that the
probability of a son in any given pregnancy is 1/2.)
b) If a couple has five children, what is the probability that they will have three sons and then two
daughters?
c) If a couple has five children, what is the probability that they will have a family of three sons and two
daughters? (Note that this probability is different
from the answer to part b.)
33. Use the rules outlined in question 6 on page 167 to answer the following questions.
a) What is the probability that the cross AABbCC 
AaBbCc will produce an F1 individual with the genotype AABBCC? (Assume that the genes are not linked.)
b) What is the probability that the cross AABbCC 
AaBbCc will produce an F1 individual with the same
phenotype as the first parent given in the cross?
34. In rabbits the allele for black hair (B) is dominant to the
allele for brown hair (b) and the allele for short hair (S)
is dominant to the allele for long hair (s). The genes
are not linked. If a pure-breeding black, short-haired
male is mated with a brown, long-haired female, what
will their offspring look like? What are the genotypes
of the F1 individuals? If two of these F1 rabbits are mated,
what phenotypes would you expect to observe in the offspring and in what proportions?

Cross

Parent #1

Parent #2

Grey in F1

Yellow in F1

grey

yellow

52

52

grey

grey

127

41

grey

yellow

63

grey

grey

86

Genotype(s) of
parent #1?

Unit Review

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35. A fruit fly that is heterozygous for both grey body and
red eyes (GgRr) is crossed with a fly having a black body
and purple eyes (ggrr). When this cross is carried out
most of the offspring look like the parents, but 7% have
grey bodies with purple eyes and 7% have black bodies
with red eyes. How would you explain these results?
36. A male fruit fly with normal wings is crossed with a
female fruit fly with miniature wings. The cross produces
165 males with miniature wings and 170 females with
normal wings. How would you explain the inheritance
pattern of this trait?

Next Section

d)
e)

f)
g)

37. Once nerve cells reach maturity, they do not replicate


their DNA. These cells have lost their ability to divide.
Assume that x represents the amount of DNA found in
one of these nerve cells. Four other cells that have
been removed from various parts of the human body are
analyzed for their amounts of DNA. The researcher
obtains the following results:
Cell

Relative Amount of DNA

nerve cell

1.0 x

Cell #1

0.5 x

Cell #2

2.0 x

Cell #3

1.7 x

Cell #4

1.0 x

Match each of the numbered cells to the correct location


in the human body listed below.
Location A cell lining the intestinal tract in the S phase
Location B a sperm cell
Location C a skin cell just beginning interphase
Location D a bone cell beginning mitosis
38. In a high school population genetics study, a student
collects information on the simple Mendelian trait of
tasting in humans. The allele for tasting (T) is
dominant to the allele for non-tasting (t). The phenotype
of 100 students is identified, with 84 being tasters and
16 being non-tasters. Follow the steps outlined below to
calculate the frequency of the two alleles in this gene
pool and the frequency of the genotypes in the population.
a) There are 100 students in the population. As a
result there are 200 genes in the gene pool.
b) Let the frequency of T in the gene pool be represented by the letter p and the frequency of t in the
gene pool be represented by the letter q. p + q must
equal one as these are the only alleles in the gene
pool for this trait.
c) The frequency of tt individuals in the population is
16/100. The chance of two tt alleles coming together
in this gene pool is represented by q2(q x q). Thus
q2 = 16/100. How would you use this equation to

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determine the value of q? What is this value?


Now use the equation p + q = 1 to calculate the value
of p.
Now that you have values for p and q, you can calculate the frequency of the three genotypes in this
student population using the following calculations.
Frequency of TT individuals = p2
Frequency of Tt individuals = 2pq
Frequency of tt individuals = q2
What does p2 + 2pq + q2 equal? Why does this have
to hold true?
Information of this sort concerning population genetics questions can be summarized in a slightly different version of a Punnett square. The outside of
the Punnett represents the frequency of genes in the
gene pool and the inside represents the frequency
of genotypes in the population.
T=p

t=q

T=p

TT = p2

Tt = pq

t=q

Tt = pq

tt = q2

Make a copy of this Punnett in your notebook and


replace the letters p and q with the actual values for
the students population study.

39. Produce a pedigree chart that would be typical of


X-linked inheritance. Your pedigree should include at
least 4 generations and 25 individuals.
40. Using a knowledge of blood types, match the parents to
their proper child.
Baby
A: AB,MN,Rh
B: O,N,Rh
C: A,MN,Rh+
D: B,M,Rh+

Parent set (father/mother)


1. B,MN,Rh O,MN,Rh+
2. O,N,Rh+
O,MN,Rh+
3. A,M,Rh
AB,MN,Rh
4. AB,M,Rh+ O,N,Rh+

41. Genes A, B, C, D, E and F are known to be linked.


The following information has been determined experimentally. What is the sequence of the genes on the
chromosome?
A is located at one extreme end of the chromosome
A crosses over with C 15% of the time
C crosses over with E 10% of the time
C crosses over with F 20% of the time
F crosses over with E 30% of the time
E crosses over with B 20% of the time
D crosses over with F 5 % of the time
D crosses over with B 15% of the time
42. In fruit flies, red eyes are dominant to white eyes and
long wings are dominant to vestigial (partially formed)

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wings. Two red-eyed, long-winged flies are crossed


and produce offspring according to the results shown in
the chart below.
Females

Males

Red-eyed with long wings

6/16

3/16

Red-eyed with vestigial wings

2/16

1/16

White-eyed with long wings

3/16

White-eyed with vestigial wings

1/16

What are the genotypes of the parents? Produce a


Punnett square that will show the results of this cross.

Making Connections
43. Both competition and cooperation are common in scientific research today. How might competition between
scientists and the corporations that employ them affect
projects like the mapping of the human genome?
44. Researchers have found that the incidence of spina bifida,
a spinal cord disorder, can be reduced if women of childbearing age who are capable of getting pregnant consume
small quantities of folic acid in their diet. One of the easiest ways to ensure folic acid consumption in these women
is to add it to common food sources like cereal grains. Is
it acceptable for an entire population to receive an additive of this type that benefits a small proportion of the
whole population? Defend your point of view.
45. Tests to determine individuals who are genetically susceptible to developing various forms of cancer are currently becoming more sophisticated and widespread in
their use. There are people who think that the day would
come when society will insist that these individuals
must take steps to protect themselves against the development of cancer so that society will not be financially
burdened by the cost of their treatment. Write a paragraph to express your view on this issue.
46. Mendel concluded that some type of inheritable factor
was responsible for the patterns of inheritance that he
observed in his pea experiments. This conclusion was
drawn without ever seeing or knowing about genes. In
a similar fashion Morgan and Sturtevant described the
patterns of inheritance of linked genes without actually
observing the genes that were carried on the chromosome directly. Are these examples of bad science when
scientists suggest the existence of structures such as
genes without actually seeing them? Support your viewpoint with several arguments.

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47. The possibility that a genetic profile of any individual


could be produced in the near future raises many
questions. Express a supported viewpoint in response to
each of the following questions.
a) Should an employer have access to this personal
genetic information?
b) Should an insurance company have access to this
profile?
c) Should the government record and keep these
profiles for all citizens?
d) Should this information be recorded by the law
enforcement agencies for all known criminals?
e) Would some individuals try to avoid having their information recorded for fear of being discriminated
against because of their genetic makeup?
48. Search Internet and media sources to identify commissions that have been established in various countries to
study the ethical, social and legal implications of our expanding genetic knowledge. Describe any suggestions that
these commissions make concerning the impact of human
genetics research on individuals, families and society.
What problem areas have been identified by these groups
and what suggestions or solutions are offered? Are different countries that are dealing with these considerations
producing the same recommendations? Give several examples to support your answer to this question.
49. Experiments utilizing each of the following organisms
has contributed significantly to our knowledge of genetics.
i) Paramecium
viii) thale cress plant
ii) yeast
ix) bacteria
iii) fruit fly
x) worms
iv) mouse
xi) corn
v) humans
xii) chickens
vi) nematode
xiii) Neurospora (bread mold)
vii) Chlamydomonas (a green alga)
Select one of these organisms and research in order to
identify the following:
a)

b)
c)
d)
e)

scientist(s) that has(have) worked with this organism (you may need to select one scientist, as your
organism may have been used extensively by many
scientists)
a brief description outlining the steps in their research
some of the results of their work
the conclusions drawn from the experiments using
this organism
the significance/impact of this work in the field of
genetics

Write a supported paragraph to show how the study of


the organism you selected has contributed to our knowledge of genetics.

Unit Review

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UNIT

3
OVERALL
EXPECTATIONS
By the end of this unit,
you will be able to:


describe and explain the major


processes, mechanisms, and
systems, including the respiratory,
circulatory, and digestive systems,
by which plants and animals
maintain their internal environment

illustrate and explain, through


laboratory investigations, the
contribution of various types of
systems and processes to internal
regulation in plant and animal
systems

evaluate the impact of personal


lifestyle decisions on the health of
humans, and analyze how societal
concern for maintaining human
health has advanced the development of technologies related to the
regulation of internal systems

Internal Systems

ll living things require a way to bring nutrients and oxygen into


their bodies and a way to get waste products out. In single-celled organisms like the amoeba, the process is relatively simple: substances
enter and exit directly through the cell membrane. In complex multicellular
organisms, however, more sophisticated methods are required. Multicellular
creatures like humans rely on complex internal systems to get the job done,
among them the respiratory, digestive, and circulatory systems. Every time
you take a breath, you rely on your respiratory system to absorb oxygen and
deliver it to your bloodstream. Every time you take a bite of food, you rely on
your digestive system to extract nutrients and pass them along to your bloodstream. Every time your heart beats, you rely on your circulatory system to
transport oxygen and nutrient-rich blood to all the cells in your body.

Scanning electron micrograph of a human lung showing a bronchiole surrounded by alveoli

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The quality of the air you breathe and the food you eat affects the smooth
operation of your internal systems. Smokers, for example, risk developing
respiratory illness, such as bronchitis, asthma, emphysema, and lung cancer. An unbalanced diet, like a diet with too many fatty foods, can cause conditions like heartburn and weight gain. A high level of stress or a lack of
exercise can lead to circulatory system disorders such as high blood pressure, stroke, or heart attack.
In order to make good personal choices about your nutrition and lifestyle,
it is important to understand how your internal systems work. In this unit,
you will investigate the structures, functions, and processes of the digestive,
respiratory, and circulatory systems. You will also examine diseases that can
affect these systems, as well as the drugs and technology currently available
to treat them.

BIOLOGY HEADLINES


Obesity Epidemic Costs Billions


Canada has one of the worst obesity problems in
the world, with almost half of the adult population
being overweight or obese. The problem also affects a large number of children. Statistics indicate
that obesity in young people is growing faster than
in adults. It is estimated that obesity is responsible for about 75% of diabetes cases and about 30%
of cardiovascular problems. Physicians warn that
treating obesity-related medical problems carries
a costly price tag, approximately $15 billion a year.

Puffer Replacement
There may be some relief in sight for children who
rely on inhaled medication to control their asthma.
A new Canadian-developed asthma drug is the first
of its kind to be approved by Health Canada for
use by children. Young asthma sufferers over the
age of six can take the medication in the form of
a chewable, cherry-flavoured tablet. The medication blocks chemicals that constrict the airway. In
one study, 40% of the patients taking the tablet
were able to stop using inhaled corticosteroids,
which over time may hamper growth.

Pessimists Have Higher Higher Blood Pressure Than


Optimists
A recent study has shown that pessimists have
higher blood pressure than their more optimistic
counterparts. In the study, 100 people were given
monitors that recorded their blood pressures every
30 min. After each interval, subjects were asked
to describe their mood. Subjects with pessimistic
outlooks tended to have higher blood pressures
than the more optimistic subjects. Researchers believe that the pessimists in the group did not deal
as well with stress, which is a known cause of high
blood pressure.

ACHIEVEMENT TASK

PREVIEW

At the end of the unit you will demonstrate your learning by completing the task Dissection in Science
Education. As a member of a school board you will be
asked to prepare a position paper on whether the
dissection of animals in the Science classroom should
continue. See page 360.

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CHAPTER 8
SPECIFIC
EXPECTATIONS

Nutrition and Digestion

By the end of this chapter,


you will be able to:


describe the importance of nutrients


and digestion in providing
substances needed for energy and
growth (8.1, 8.2, 8.3, Investigation 1,
and Investigation 2)

demonstrate an understanding of
how fitness level is related to the
efficiency of metabolism and of the
cardiovascular and respiratory
systems (8.1)

describe how the use of


prescription and non-prescription
drugs can disrupt or help maintain
homeostasis (8.2, 8.3)

compare the anatomy of different


organismsvertebrate and
invertebrate (8.4, Investigation 3)

select and integrate information


about internal systems from various
print and electronic sources or from
several parts of the same source
(8.1, 8.2, 8.3)

identify examples of technologies


that have enhanced scientific
understanding of internal systems
(8.3)

provide examples of Canadian


contributions to the development of
technology for examining internal
systems (81, 8.3)

analyze and explain how societal


needs have led to scientific and
technological developments related
to internal systems (8.3)

present informed opinions about


how scientific knowledge of
internal systems influences
personal choices concerning
nutrition and lifestyle (8.1)

n human society, food selection, preparation, and consumption are central activities. The expression you are what you eat sums up the general
understanding that food is important to a persons well-being. At the level
of a single cell, the equation for cell respiration tells us how glucose is
metabolized for the release of energy to the cell.

FIGURE 8.1 The epithelium in the esophagus, false-colour scanning electron


micrograph (SEM). The epithelium is many layers of flattened cells. The microfolds
keep the esophagus moist and lubricate and protect the surface against abrasion.

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How does food selection relate to cellular activity? The answer is the digestive system. Every organism needs a supply of nutrients to fuel the processes that drive cellular metabolism.
The human body requires six types of nutrients in order to function. It
can obtain these requirements from an infinite combination of foods. However,
you need to extract the useful nutrients from the food you eat, deliver them
to your cells, and eliminate wastes.
To take in and use food, the body needs the various organs of the digestive tract. Examination of their unique structures will help you to understand
how they perform the vital functions of mechanical and chemical digestion,
secretion, and absorption. You need to be informed about how to balance
healthy nutrition and exercise to achieve overall fitness. This chapter will describe components in foods that are important for good health, suggest healthy
eating patterns, and discuss some common disorders that arise from a deficiency or an excess of certain nutrients in the diet.
In this chapter, you will study the components of food required to fuel
your body and learn the food groups necessary to ensure a daily supply of
nutrients. By examining the structures of the digestive system and the way
they interact with other structures, you will be able to understand how nutrients are acquired, digested, absorbed, and distributed in order to meet the
needs of your bodys cells. You will consider technologies that enhance
understanding of the digestive system and Canadian contributions to the field
of nutrition and health.

CHECKPOINT

Discovering Biology

Draw a branching diagram


to indicate the components
of a balanced meal.

Food for Thought!


In our society today, people are becoming more aware of what they eat. Think
of what you have eaten over the last 24 hours. List all these items in your
notebook. From your knowledge and experience, attempt to group these items
into the following categories: carbohydrates, proteins, and fats. Compare your
list and a partners. Discuss with your partner the following:


the make-up, similarities, and differences in your diets over the last 24
hours

the functions of carbohydrates, proteins, and fats within your body


CHAPTER 8

Balanced
meal

Nutrition and Digestion

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Quit

8.1 Nutrition
Key Understandings

When you have completed this section, you will be able to:
 describe the importance of proper nutrition and the nutrients needed for energy and
growth
 explain how personal choices in nutrition are directly related to health and well- being
 appreciate Canadian contributions to the field of nutrition

WORD ORIGIN
Macro from the Greek, makros
meaning big and Micro from
the Greek, mikros, meaning
little; for example, microcosm means a small sample
of society.

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Internal Systems

Your body is like a machine. To perform


at its best, it needs fuel to supply it with
energy. When you provide your body
with nutritious foods it is able to perform well. However, when you eat foods
with little or no nutritional value, your
body is unable to function to the best
of its ability. Taking care of your body
through a balanced diet will help you to
stay fit, have more energy, and be
healthy.
Every cell in the body must have a
constant supply of energy to remain alive
and perform its particular functions.
Energy comes from the consumption of
nutrients and the circulatory system
plays a key role in delivering these vital
nutrients throughout the body. The
amount of energy that different people
require depends on their level of activity, their specific medical conditions, and
whether they are male or female. As
shown in Table 8.1, males generally have
higher energy needs and therefore must
take in more energy than females to
maintain health. This difference in the
daily energy requirements of men and
women is mainly associated with the difference in average size between the
sexes.
Food not only supplies the energy
vital for life, but it also provides important building materials that allow bodies to grow, develop, and rebuild injured
and damaged cells. In general, a
nutrient is any substance that has a
useful function when taken up by body
cells. The food that provides your body
with the energy it needs to function
properly is measured in joules. A joule

is the metric unit used to measure


energy. The large amount of food energy
required for maintenance, growth, and
repair makes it more appropriate to
measure energy in kilojoules (1 kJ =
1000 J). The joule and kilojoule are the
metric units used to indicate food energy
content but many food companies still
recognize and use the calorie as a unit
of measurement. It is important for
consumers to know that a calorie is a unit
of heat. It is the amount of heat needed
to increase the temperature of one gram
of water by 1C. To convert calories to
joules, the value in calories is multiplied
by 4.1855. A commonly used unit is the
kilocalorie (sometimes called the dietetic
Calorie) with the symbol Cal. A kilocalorie is the amount of energy needed
to increase the temperature of one kilogram of water by 1C (1 Cal = 4.1855 kJ).
Table 8.1 indicates the recommended
daily energy intake.
In human development, there are
times when growth spurts occur. For example, during puberty, both males and
females grow significantly taller. In these
instances certain nutrients may be more
useful than others. Also, a larger total
energy intake may be needed. However,
even after a person reaches adult size,
maintenance and repair are important.
All food substances can be divided
into two general groups: organic foods,
which are produced by living organisms,
and inorganic foods that come from
rocks, soil, and the seas. The organic
components of food include carbohydrates, fats, proteins, and vitamins, while
the inorganic components include min-

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INFOBIT

TABLE 8.1 Recommended Daily Energy Intake

Stage of Development

Mass (kg)

Height (cm)

Energy (Cal)

Energy (kJ)

Infants
0.00.5 yrs.

60

__kg  115

kg  481

0.51.0 yrs.

71

__kg  105

kg  439

Children
13

13

90

1300

5 441

46

20

112

1700

7 115

710

28

132

2400

10 045

1114

45

157

2700

11 301

1518

66

176

2800

11 719

1922

70

177

2900

12 138

2350

70

177

2700

11 301

51 +

70

177

2400

10 045

1114

46

157

2200

9 208

1518

55

163

2100

8 790

1922

55

163

2100

8 790

2350

55

163

2000

8 371

51 +

55

163

Males

Females

1800

7 534

Pregnant

300

1 256

Lactating

500

2 093

erals and water. Since carbohydrates,


fats, and proteins are consumed and
needed in large amounts daily, they
are also called macronutrients.
Vitamins and minerals are taken in
minute quantities and are thus called
micronutrients. Roughage (nutritional
fibre) is also an important part of a complete diet. It does not have any nutritional value, but it aids in good digestion.

Macronutrients
Carbohydrates Carbohydrates are
organic compounds made only of carbon, hydrogen, and oxygen. They are
the major source of energy required
for all bodily functions. Common examples of carbohydrates include
starches, sugars, and cellulose. They are
important because they provide a ready

Lactose is a disaccharide present in milk. Eighty percent of


the worlds population cannot
digest lactose after about the
age of two. The condition
results when lactase, the
enzyme that is required to
digest lactose, is absent.
Lactase splits the lactose into
two monosaccharides, glucose
and galactose. The inability to
digest lactose is called lactose
intolerance. It is important to
note that the lack of this enzyme is the normal condition in
adult mammals, though many
people perceive the lack of
lactase to be abnormal. Milk is
really an essential food only for
infants and toddlers.

source of the glucose needed in cellular


respiration. Glucose is a simple, single,
sugar unit or monosaccharide. Other
monosaccharides include fructose and
galactose. Simple sugars do not have to
be digested or broken down. They can
be used directly and are therefore good
sources of quick energy. More complex
carbohydrates, such as disaccharides
(two sugar units) and polysaccharides
(many sugar units) must first be digested
before they can be used by the body.
Good sources of carbohydrates include
breads, cereals, and pasta. Many plants,
such as potatoes, rice, and breadfruit,
store carbohydrates as starch. When
more carbohydrates than your body requires are ingested, the excess amounts
are stored in the short term as glycogen
in the liver, in muscle, or are converted
to fat. Cellulose is a polysaccharide found

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Michael Julius, a researcher
at Toronto General Hospitals
research unit, has shown a
possible link between a protein
in breast milk and the activation, or start-up, of the infants
own immune system.

M AT H L I N K
Remember:
1 g of carbohydrate provides
4 Cal or 16.7 kJ.
1 g of fat provides 9 Cal or
37.6 kJ.

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in the cell wall of plants. It is not digestible by humans and is therefore not
considered to be a human nutrient, even
though it is a carbohydrate. It provides
the human system with roughage.
However, for a herbivore like a planteating rabbit, cellulose would be a very
important part of the diet. Rabbits, unlike humans, are well equipped to break
down cellulose into a useful digestible
form. They have a suitable bacterial flora
in their large intestine. In humans, cellulose remains undigested and passes
through the alimentary canal to be eliminated through the anus as feces.

Fats Fats (also known as lipids), in moderate quantities, are part of a balanced
diet and are important for maintaining
good health. Fats perform several important roles within the body. The phospholipid bilayer in the cell membrane
surrounding all body cells includes lipid
and cholesterol. Fats surround vital organs and joints and act like a protective
cushion. Fats surround nerves and help
them to deliver signals quickly and accurately. As well, a layer of fat just underneath the skin helps to insulate the
body against changes in the external environment. Fats are concentrated
sources of energy. One gram of fat provides approximately 37.6 kJ of energy,
while one gram of protein or carbohydrate provides only 16.7 kJ. However,
fat intake must be moderated since excessive fat intake can lead to obesity.
Fats, like carbohydrates, are organic
compounds composed of carbon, hydrogen, and oxygen, but the ratio of
these atoms is different from that in carbohydrates. The basic structure in fats
is the triglyceride, a three-carbon glycerol molecule with three fatty acids
joined to it. Fatty acids are long chains
of carbon atoms with an acid group at
one end. Depending on the hydrogen
atoms present, a fat can be either a liquid or a solid at room temperature. If
every available chemical bond of the
carbons in the chain is holding a hydrogen atom, the chain is described as

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saturated. Generally if a fat is a solid at


room temperature it is a saturated fat.
If it is a liquid at room temperature, it
is an unsaturated fat. Butter, lard, and
animal fat are solid at room temperature and are therefore examples of saturated fats. In contrast, vegetable oil is
an example of an unsaturated fat.
Some fat is a healthy component of
daily nutrition. Our society has led us to
believe that fats cause us to put on extra
weight and are therefore unhealthy and
to be avoided. It is true that an excess
of fat does contribute to weight gain.
However, your body requires a certain
amount of fat each day to function properly. It acquires this fat when you eat a
balanced diet. There are various fatty
acids, such as linoleic, linolenic, and
arachidonic that are considered
essential nutrients. They cannot be supplied by any other food source.
Therefore it is important to include some
fat, even in a low energy diet.

Proteins Proteins are the most important compounds for providing structure within the body. Not only do
proteins make up critical parts of muscles, skin, and internal organs, but they
are also the most abundant of the organic compounds found within body
cells. Some proteins are enzymes that
are vital for cellular function. In specialized cells, proteins act as cell surface
markers that are targets for specific hormones. Cell membrane proteins provide
channels in the phospholipid bilayer of
cells. Without these channels, valuable
nutrients would not be able to enter or
exit body cells.
The body has a variety of proteins
that differ in shape, size, and function.
All proteins are built from a set of 20
amino acids. These amino acids are
joined together by peptide bonds. Of the
20 amino acids, 8 must be obtained in
the diet. These are called essential
amino acids. If necessary, the atoms in
these essential amino acids can be rearranged to form the other 12 amino
acids. However, a well-balanced diet

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ensures that all 20 amino acids will be


consumed. Table 8.2 summarizes common functions of proteins.
Food sources of protein include
meat, fish, eggs, milk, cheese, beans,
nuts, and lentils. A lack or inadequate
supply of protein in the diet leads to
disease. See Figure 8.4 on page 253.

Micronutrients
Vitamins and minerals are micronutrients and differ from the macronutrients
in significant ways. Vitamins and minerals are taken in extremely small quantities daily, often in milligrams; they
cannot be used as an energy source.
There are many vitamins and minerals
needed on a daily basis to sustain life
and maintain health, each with a specific role to play in the bodys overall
metabolism.

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amounts of other elements. Most vitamins


act as coenzymes, joining to specific enzymes (proteins) to make sure that biochemical reactions within the cell take
place properly. Table 8.3 lists some key
information about the vitamins that humans require. Vitamins fall into two major
groups, ones that are fat-soluble and ones
that are water-soluble. The fat-soluble vitamins are A, D, E, and K. They are found
TABLE 8.2 Functions of Proteins

Role of Protein

Function Within the Body

Enzyme

Help to catalyze chemical reactions within the body.

Hormone

Substances that influence specific cellular and metabolic


functions. They act at a different location from where they are
formed.

Cell Surface Marker

Proteins on the surface help to identify specific target cells to


which special molecules (for example, hormones) can bind.

Structural

Provide support and structure to the organism (for example,


hair and nails are made of a protein called keratin) and to the
cell (transmembrane proteins).

Transport

Many transport structures, such as channels and pumps, are


made of specialized proteins that help move materials into and
out of cells.

Vitamins Vitamins are organic compounds, required in very tiny amounts as


part of a balanced diet. They are vital to
life. They contain atoms of carbon, hydrogen, oxygen, nitrogen, and small

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TABLE 8.3 Important Vitamins and Minerals Required in the Human Diet

Vitamin or Mineral

Some Common Food Sources

Some Important Functions Within the Body

eggs, butter, and leafy green vegetables

growth and proper vision

Fat-Soluble Vitamins
A
D

milk, liver, eggs

growth, helps to absorb calcium from the digestive tract

vegetable oils, milk, leafy vegetables

protects cell membranes

vegetables, tomatoes, soy beans

blood clotting

B1

seafood, meats, grains

growth, proper heart muscle functioning

B2

milk, poultry, vegetables

carbohydrate metabolism

B12

meats and liver

production of red blood cells

citrus fruits, vegetables

growth, healthy gums and blood vessels

Calcium

milk and milk products

tooth and bone formation

Iron

meats, green vegetables

hemoglobin formation

Sodium

salt

muscle contraction; transmission of nerve impulses

Potassium

fruits

regulation of the heart beat; transmission of nerve impulses

Iodine

Iodized salt

thyroid activity

Water-Soluble Vitamins

Common Minerals

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Most vitamins are easily lost or
destroyed by heat, by exposure
to oxygen, or by being dissolved out of food into water.
To prevent the loss of vitamins,
it is recommended that as little
water as possible is used to
cook vegetables and fruits.
Foods rich in vitamins B and C
should be cooked for only a
short time.

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in the fats and oils that you ingest. This


is another reason that a certain amount
of fat intake is part of a healthy, balanced
diet. Vitamins A, D, E, and K cannot be
excreted, but break down over time as
they participate in metabolic processes.
Therefore a regular intake of fat-soluble
vitamins is recommended to replace those
that are metabolized. Reduction of fat intake over a long period of time will result
in the elimination of these vitamins from
your body. Water-soluble vitamins include
the B and C vitamins. Water-soluble vitamins are eliminated from the body relatively quickly and so a daily intake is
recommended. If too much vitamin B or
C is taken in, the excess is excreted in the
urine.
Testing for the presence of vitamins
in food is not a simple matter. It is usually done in a laboratory. These tests are
performed on animals like white mice,
guinea pigs, and monkeys. The animals
are divided into two groupsone exper-

Scurvy and the


Discovery of
Vitamins
The discovery of the chemical food
substances now called vitamins has
an interesting background. History
relates that many of the sailors who
were part of Magellans crew when
he explored the Pacific Ocean in 1519
became ill with an unknown disease.
The sailors lived on salted meats because these foods remained unspoiled
throughout a long voyage. After
weeks at sea, the sailors became listless, their muscles became weaker
and weaker, and finally they suffered
serious nosebleeds. Some died.
Others who had stronger constitutions survived and went ashore when

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imental group and one control group. A


food to be tested for its vitamin content
is fed over a period of time to one group,
and not to the other. Over time, the effects
of the deficiency of the vitamin can be
observed.

Minerals Minerals are inorganic compounds required by the body. Some of


the most important molecules in the
body contain minerals. For example, the
hemoglobin molecule, the protein found
in red blood cells, contains four iron
atoms. This arrangement allows red
blood cells to transport oxygen to body
cells. Calcium is another important mineral and is a major component for
healthy bones and teeth. Calcium also
helps nerve and muscle cells to function
properly and helps blood to clot.
Although the body does not destroy
the minerals that it takes in, it does lose
many of them in sweat and urine. It is
therefore important for these minerals

the ships reached land. Sailors who


ate the fresh fruits that grew native
to the shore on which they landed recovered from the illness later known
as scurvy.
It was discovered that English
sailors who were fond of the juice of
lemons or limes did not experience
scurvy. Or, if they did, they recovered
when fed lemon juice regularly.
Although British Navy officials were
unaware of the reasons for this, they
passed a law that required every ship
to carry a cargo of lemons for the
crews consumption. Of course, it was
difficult in those early days before refrigeration to prevent spoilage of
fresh food. However this precaution
did help to prevent the occurrence of
scurvy, which we now know to be
due to a deficiency in vitamin C
(ascorbic acid).
At about the same time, it was
discovered that Chinese and Japanese
seamen whose diets consisted mainly

of white rice and fish, fell ill to the


disease beriberi (meaning I cannot!
I cannot!) The disease weakens muscles and finally paralyzes them.
Japanese doctors discovered that
beriberi could be relieved and even
prevented by the addition of vegetables, meat, condensed milk, and
whole grain rice to the diet. The
cause of beriberi is now known to be
a deficiency of thiamin (vitamin B1)
in the diet.
After years of study and experimentation, scientists in various countries concluded that there are
chemical substances in foods that are
necessary to regulate all body functions and to prevent disease. These
substances were named vitamins.
The diseases that result from an insufficency or total absence of vitamins
are called vitamin deficiency
diseases. In 1932 ascorbic acid, the
molecule now known as vitamin C,
was isolated from lemons.

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to be replenished. By consuming a
balanced diet we are able to obtain our
requirement of minerals. Plants are
reservoirs of minerals because they
are able to absorb them from the soil
and incorporate them into their tissues.
Fruits, whole grains, meats, and vegetables contain iron, phosphorus, calcium, and magnesium. These foods also
contain a variety of other trace elements, such as zinc and selenium, that
the body needs in small amounts. Table
8.3 details some minerals, including
iron, that make up an important part of
our diet, and are used by the body in
many ways.

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Image omitted due to copyright restrictions.

Water
Although water is not an energy source
it is considered the most important substance for all animals, including humans.
Without food, you could survive for several weeks, but without water you would
die within days. Most of the weight of the
human body is water. Plasma, the liquid
component of the blood, is more than
90% water. Water is the means of transport for all the nutrients. Every living cell
in your body is in contact with water in
which life-sustaining molecules are dissolved. The watery extracellular fluid
bathing each cell also carries away
metabolic wastes.
On hot days, or when you exercise
vigorously, sweat glands remove water
from your tissues and use it to moisten
the surface of your body. As this sweat
evaporates, it cools your body. Each time
you take a breath, some moisture from
the surface of your lungs is lost to the
outside air. Since water is continuously
lost from the body, it must be continuously replenished. It is recommended
that you drink six to eight glasses of
water each day, a volume of about 11.5 L.
Clearly nutrients are important to
the maintenance of health. An organisms diet may vary, but the six basic nutrients that we have discussed are vital
to sustain life. Since organisms have diverse feeding patterns, structural adap-

FIGURE 8.2 The frosty breath in dry, wintry air shows that water is lost from the

lungs.

tations allow them to acquire and ingest


their food in different ways. Scientists
have used these feeding patterns to help
them classify animals as herbivores
(plant eaters), carnivores (meat eaters),
or omnivores (plant and meat eaters).

Anorexia nervosa
and bulimia
Anorexia nervosa and bulimia are two
different but related medical and psychiatric conditions that are categorized
as eating disorders. Both disorders are
more common in females than males.
Adolescent girls have the highest risk of
developing these two illnesses. Patients
with anorexia nervosa are characterized
by an intense fear of gaining weight and
a poor self-image. They also lack appetite and are very thin and much below
their ideal weight based on their height.
These patients have amenorrhea (a lack
of menstrual periods), and often

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exercise excessively or abuse laxatives.


Bulimia is characterized by periods of
binge eating (often thousands of Joules
at a sitting), alternating with fasting and
self-induced vomiting. Many individuals
with bulimia use diuretics, laxatives, and
substances to induce vomiting. There
is some overlap between these two conditions and bulimic behaviour can be
seen in some patients with anorexia.
The causes of these eating disorders
are thought to be a combination of genetic, social, and environmental factors.
Anorexia nervosa and bulimia can lead
to many serious and possibly life-threatening medical complications. Some of
these complications are outlined in Table
8.4 on page 253.
Treatment of these two conditions is
usually a slow process and involves a
combination of medical and psychiatric
interventions. Some patients must be admitted to hospital if treatment is to be
successful.

Benefits of Healthy Eating


Healthy eating is a matter of personal
choice. Canadas Food Guide to Healthy
Eating on page 253, Figure 8.4 recommends the optimal amount and type of
foods that should be consumed daily. A
properly balanced diet and regular exercise are two essentials for maintaining health and fitness. Regular exercise
is one method of building muscle,
reducing fat, increasing metabolism, and
maintaining a healthy body weight. The
metabolic rate is the total of all anabolic
and catabolic reactions going on in the
body at any time. It may be expressed
as joules per hour.
People who are physically fit have a
higher metabolic rate than those who
are unfit. This is because fit individuals
have a higher percent of their body mass
composed of muscle rather than fat.
Muscle cells have a higher rate of
metabolism than fat cells.

istry. In 1994 he was named a


Companion of the Order of Canada.

Canadians Active
in
Nutrition Research

Raymond (Ray) U. Lemieux is a


prominent Canadian organic chemist,
recognized as one of the worlds leading scientists in carbohydrate chemistry. Ray Lemieux was born in Lac
La Biche, Alberta, on June 16, 1920.
During his career, Lemieux has made
contributions that go beyond chemistry and extend into biology and
medicine. He gained international
recognition in 1953 as the first person to synthesize sucrose (table
sugar). This discovery has been called
the Mount Everest of organic chem-

252

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Drs. Alan Brown, Fred Tisdall, and


Theo Drake invented Pablum in
1930. Their goal was to improve
the nutrition of infants. Pablum was
the first ready-to-use vitamin-and
mineral-enriched baby cereal. These
three experts in their field had recognized the importance of proper nutrition for normal growth and
development, but also noted a lack of
foods available to cater to the special
nutritional requirements of babies.
Following extensive research and numerous trials, they created Pablum
(from the Latin word Pabulum,
which means food), the first thoroughly cooked and dried infant
cereal.
With its high nutrient content
and ease of preparation, Pablum was
quickly adopted by new mothers as

a staple for their babies diets. Before


long Pablum became a household
name, and to this day, many
Canadians use the brand name
interchangeably with infant cereal.

Image omitted due to


copyright restrictions.

FIGURE 8.3 Pablum, a popular food for


generations of Canadian babies.

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TABLE 8.4 Complications of Anorexia Nervosa and Bulimia

Organ system

Anorexia Nervosa

Bulimia

Endocrine and
metabolic

amenorrhea, osteoporosis, thyroid


dysfunction, abnormal temperature
regulation

menstrual irregularities

Cardiovascular

bradycardia (too slow heart rate),


hypotension (low blood pressure),
arrhythmias (irregular heart rhythm)

Ipecac poisoning (ipecac is a substance


used to induce vomiting)

Renal (kidney)

renal stones; decreased filtration


properties of the kidney

low potassium (from diuretics)

Gastrointestinal

decreased gastric emptying,


constipation, abnormal liver function

acute gastric dilatation or rupture, parotid


enlargement, inflammation of the
esophagus (esophagitis), low potassium
(from laxatives), esophageal rupture

Hematologic

anemia, low platelets, and low white


blood cells

Ministry of Supply and Services Canada 1990. Cat. No. H39166/1990E, ISBN 0-66217438-0

Respiratory

aspiration pneumonia

Image omitted due to copyright restrictions.

FIGURE 8.4 Canadas Food Guide indicates the


importance of a balanced diet.

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Decision-Making Skills

Case

Study

Health and the Media

Defining the Issue

Developing Assessment Criteria

Researching the Issue

Analyzing Data and Information

Proposing a Course of Action

Justifying the Course of Action

Communicating Your Proposal

B A C K G R O U N D I N F O R M AT I O N

Different diet promoters bombard us each day in


the media, each claiming to make us feel healthy
and look better. Celebrity spokespeople work to convince us that their diet is the best. But who is right?
The following are some examples of the variety of
diets that are marketed. Liquid protein diets that
claim to contain all the nutrients you require in a
powdered milkshake you can take at each meal.
Protein diets that consist of protein like chicken,
beef, cheese, and eggs. A fruit and vegetable diet
where you can eat as much as you want for breakfast, lunch, dinner and snacks. A back-to-basics diet
that contains all the food groups.
Which diet do you choose?


Liquid protein diets claim to contain all the


nutrients you require in a powdered milkshake you can take at each meal.

Protein diets consist of chicken, beef, cheese,


and eggs.

A fruit-and-vegetable diet allows you to eat as


many fruits and vegatables as you want for
breakfast, lunch, dinner, and snacks.

A back-to-basics diet contains all the food


groups.

Image omitted due to copyright restrictions.

FIGURE 8.5 One type of diet allows unrestricted consumption


of fruits and vegetables.

Analyzing the Issue


1.

Behind every fad diet, there is a marketing campaign.


Brainstorm different groups who contribute to the creation of these campaigns.

4.

Why are fad diets so popular in our society? How does


this compare with other societies around the world?
Explain.

2.

Using the Internet, research one of the diets in the scenario or select a fad diet currently in the media. Identify
the claims made by the diet. Compare the daily nutrient
requirements of the fad diet with the recommendations
from Canadas Food Guide. Summarize the comparisons
in a table.

5.

Should marketing influence something as important as


diet and health? Why? Why not? Explain fully.

6.

What are the elements of a healthy diet? Use your research to prepare a promotion piece to highlight what
you believe is the healthiest diet.

7.

Plan a class symposium on fad diets. Share media advertising and decide the most important criteria needed
to assess the value of a fad diet.

3.

254

What are the risks associated with the diet? What are
the potential benefits?

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Section 8.1 Review


Understanding Concepts
1. Runners often have a small snack before competing in a race. Based on
your knowledge of macronutrients,
suggest an appropriate snack for
runners before a race.
2. Your uncle is a heart patient and asks
you to help him decide between two difference salad dressings. The label on
one dressing reads that it has
completely hydrogenated fat and the
label on the other dressing reads that it
has partially hydrogenated fat.
Hydrogenation refers to the number of
single bonds between the carbon atoms.
Which dressing would you recommend?
3. What is the advantage of including
bran in a balanced diet?
4. The table below lists three different
groups of people who have a special
need for a mineral(s) in large amounts.
Suggest reasons to account for their
special dietary requirements.
Group

6. For breakfast, a student eats a bowl of


cereal and milk that provides 175 Cal
of energy. Her walk to school requires
400 kJ of energy. Calculate whether the
energy yield from the breakfast would
be sufficient to meet the students energy requirements for the walk to school.
7. You are trying to maintain a diet that
allows you to consume no more than
430 Cal at lunch. You decide to go to
the local burger shop to buy your
lunch. The table summarizes three possible meal selections. Based on your dietary requirements, explain which
selection would be most suitable.
Meal Type

Carbohydrates (g)

chicken burger 30

Proteins Fats
(g)
(g)
21

18

fish and chips

45

24

32

pizza

38

19

23

Mineral(s) required in
particularly large amounts

youngsters aged 12 to 17

calcium and phosphorus

women and teenage girls

iron

pregnant and breast-feeding women

calcium and phosphorus

Reason

Applying Inquiry/
Communication Skills
5. The table below shows the approximate daily energy requirement of
people in different age groups and
occupations.
Group
age 1315
age 1619
adult office worker
adult construction worker

Daily Energy Requirement (Cal)


Male
Female
2870
2400
3350
2200
2400
2100
4300
2870

a) Copy out the table and calculate the


energy requirement in kilojoules
for males and females.
b) Suggest reasons why the caloric intake suggested for a construction
worker is different from that of
an office worker.
c) Explain why an individual has
higher caloric needs during the
teenage years.

Daily Energy Requirement (kJ)


Male
Female

Making Connections
8. In what ways do you think society
influences an individuals perception of
a health body weight?

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8.2 The Digestive System


atom
(hydrogen)

molecule
(water)

organelle
(mitochondrion)

cell
(muscle)

tissue
(muscle)

organ
(heart)

Key Understandings

When you have completed this section, you will be able to:
 describe the digestive process
 explain the structure of the gastrointestinal wall
 describe how nutrients are absorbed by the body

From a Cell to a System


Hierarchy in Biology
The living world is organized in a series
of hierarchical levels. Hierarchy describes a definite order from less complex to more complex. The first level is
the cellular level. Cells can perform all
the necessary functions that define life.
In considering nutrition and digestion,
a single cell acquires the nutrients it
needs through diffusion, osmosis, and
active transport. Larger organisms contain more cells and are more complex.
With increased complexity, more sophisticated methods are needed to acquire and transport nutrients. Therefore,
cells in multicellular organisms specialize. Muscle cells, nerve cells, and skin
cells are all examples of this specialization. Cells that have similar functions are
grouped together to form tissues. The
tissue level is the second level of hierarchy. There are four main types of tissue that make up vertebrate bodies.
They are connective tissue, epithelial
tissue, nervous tissue, and muscle
tissue.

Building a Digestive System

organ system
(cardiovascular)

FIGURE 8.6 Levels of organization in the human body

256

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One level of complexity higher than the


tissue level is the organ level. This level
consists of several types of tissues that
come together and coordinate to perform
one overall function. Some examples of
organs in the digestive system include
the stomach, the liver, and the small
intestine. An organ system is a group
of several organs that work together to
perform a vital body function. Your body

is composed of many organ systems,


each of which plays a role in the maintenance of your internal environment or
homeostasis.
As you learn about the digestive, respiratory, and circulatory systems, you
will better understand their interdependence. All cells in the body require nutrients and oxygen. These essentials are
provided by the digestive and respiratory systems. The circulatory system ensures that these substances are promptly
delivered to every body cell.

Structures, Functions,
and Processes of the
Digestive System
The digestive tract, also called the gastrointestinal tract or alimentary canal,
is basically a tube that is open at both
ends. This muscular tube that passes
through the body from the mouth to the
anus is the central feature of the digestive system. The inner surface of this
tube is continuous with the outer surface of the body, and so technically, is an
extension of the external environment.
Its structure allows food to enter through
one end, products of digestion to become
absorbed through the lining of the tube,
and waste products to be eliminated
through the other end. This basic design
is present in simpler organisms, such as
the earthworm. With evolution, only the
complexity of the system increases
as each component takes on specialized
structures and performs specific
functions.

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In mammals, the digestive tract consists of a long convoluted alimentary


canal extending from the mouth to the
anus (Figure 8.8). The digestive system
also includes accessory organs: the salivary glands, pancreas, liver, and gallbladder. Accessory organs provide the
enzymes and other substances that are
essential for digestion to occur. The digestive tract begins with the oral cavity
and includes the mouth, pharynx, esophagus, stomach, small intestine, large intestine, and anus. Each of these areas is
specialized for a particular phase in the
overall process of digestion, but the basic
structure of each is similar.

Structure of the Wall of the


Digestive Tract
The layers of tissue that make up the
gastrointestinal wall, surrounding the
lumen, which is the central space, are:
1) the mucosa; 2) the submucosa; 3) a

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circular layer of smooth muscle; 4) a longitudinal layer of smooth muscle; and 5)


the serosa (Figure 8.7).
The mucosa, or epithelial lining,
consists of a variety of mucus-secreting,
enzyme-secreting, absorptive, and endocrine (hormone-secreting) cells. The
submucosa is a layer of connective tissue that supports blood vessels, lymphatic vessels, and nerves. The
lymphatic vessels are part of the lymphatic system and serve the role of
transporting lipids that cannot enter the
blood. The circular smooth muscle
forms a ring around the lumen; contraction of this muscle constricts the
lumen. The longitudinal smooth muscle is arranged along the length of the
digestive tract so that its contraction
shortens a segment of the tract. The
serosa is composed of connective tissue;
it forms the covering of the digestive
tract and separates it from the rest of
the abdominal organs.

WORD ORIGIN
Tissue from the French tissue
meaning woven. This is an
appropriate use of the word
since many tissues are woven
together to make organs.
System from the Greek
sustema, which means an
organized whole.

Absorption of
nutrients
microvilli
FIGURE 8.7 The digestive tract is a tube that consists of

VILLUS

various layers of tissuethe mucosa, submucosa, circular


and longitudinal muscle, and the serosa.

epithelium
lymphatic
vessel
capillary
network

SMALL
INTESTINE

Mucosa: highly folded


lining of intestine where
absorption occurs
Submucosa: connective
tissue containing blood
vessels and nerves
Circular and longitudinal
muscle layers: used
for peristalsis
Serosa: connective tissue

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Steps in Digestion
The central function of the digestive system is to change the foods you eat into
chemical forms your body can use.
Anything your body cannot use must be
properly eliminated. The digestive system acquires food through ingestion.
Food is typically in a form that is completely unsuitable for use by body cells.
Food becomes useful only after it has
been converted into diffusible substances
that can pass though the walls of the
small intestine and blood and lymphatic
vessels in the process of absorption.
Therefore, food molecules must be transformed into smaller and simpler units.
This preparation of food for absorption
is termed digestion, and takes place in
the alimentary canal. During digestion
all carbohydrates are converted into
monosaccharides, such as glucose, fructose, and galactose. All proteins are converted into amino acids, and fats are
broken down into fatty acids and glycerol. Two types of digestion are involved:
mechanical digestion and chemical
digestion.
Mechanical digestion occurs mainly
in the mouth and stomach. In mechanical digestion, solid food masses are
shredded, torn, ground, and shaken. All
mammals that eat solid food use their

salivary glands

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teeth to shred, tear, and grind food. This


helps increase the surface area available
for chemical digestion. Incisors are flat,
blade-like teeth used for biting,
canines shred and tear, and premolars and molars grind and crush.
Carnivores have greatly enlarged canine
teeth for biting and tearing. These teeth
are primarily used to shred meat.
Canines are the fang-like teeth located
at the front corners of the mouth.
Herbivores, on the other hand, have incisors specialized for snipping leaves and
flat pre-molars and molars that are used
primarily to grind the tough fibrous plant
food that they eat into a fine pulp. Since
most humans eat both plants and animals, they are omnivores. Therefore,
human teeth resemble the teeth of both
carnivores and herbivores.
Chemical digestion can occur once
food has been broken down into smaller
components that have a high surface
area. The food is mixed with various
juices from the digestive glands and then
enzymes act upon the broken-down food.
The steps of mechanical digestion
occur at several stages, aided by a variety of mechanical activities generated
by the muscular walls of the digestive
system. As a result, a rich, soupy juice
is formed. This soup is not necessarily
in the final form from which food

sphincters
accessory organs
alimentary canal

liver
gallbladder

pancreas

mouth with
teeth

esophagus

stomach

FIGURE 8.8 Components of the digestive system

258

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small intestine

large intestine

anus

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substances can be properly absorbed.


Absorption occurs primarily in the small
intestine. In the large intestine only
water and some vitamins are absorbed.
Elimination occurs through the rectum
and anus. The nervous and endocrine
systems help the digestive system to
function by providing impulses and
hormones that target and stimulate digestive organs and glands.

Organs of the Digestive Tract

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Close your eyes and swallow.


Analyze the familiar movements in your
mouth and throat. First, the tongue lifts
the bolus to the roof of the mouth and
pushes it back so that it can be swallowed. The bolus passes through the
pharynx and glides over the epiglottis,
a sort of trap door that prevents food
from entering the trachea (windpipe) so
that choking does not occur. Food then
drops into the esophagus, a long thin
tube with muscular walls.

WORD ORIGIN
Peristalsis from the Greek
peri, meaning around and
stellein meaning wrap

The Oral Cavity Food enters the human


digestive system by manipulations of the
mouth (Figure 8.9). Besides taking in
food, the mouth begins to dismantle it,
using lips, tongue, teeth, and jaw muscles. Incisors, chisel-like teeth in the front
of the mouth, cut food into bite-sized
pieces. Canines are used for gripping
and tearing food. The tongue, a slippery,
mobile platform, manipulates food during chewing, pushing it back to the
molars. In the mouth, the chewed food
is mixed with saliva that contains the
enzyme salivary amylase. This enzyme
begins the chemical digestion of carbohydrates. The mechanical and chemical
digestion of food results in a moistened
ball-like mass, or bolus, that is easier to
swallow. The bolus is well lubricated
so that it does not scratch the delicate
mucous membranes of the digestive
tract.
incisors
(for cutting)
cuspid
(for tearing)
premolars
(for crushing)

molars
(for crushing)

upper
dental
arch

hard palate

FIGURE 8.9 The oral/buccal cavity

Image omitted due to copyright


restrictions.

FIGURE 8.10 False-colour scanning electron micrograph (SEM) of the


lining of the esophagus. The epithelium consists of many layers of
flattened cells. The microfolds on the cell keep the espohagus moist.

The Esophagus The esophagus is a muscular tube with a diameter of 2 cm that


connects the pharynx and the stomach.
At its point of connection with the stomach there is a ring of smooth muscle
called the cardiac or lower esophageal
sphincter. Constriction of this sphincter prevents reflux, or back flow of food
from the stomach into the esophagus.
When constriction of this sphincter is
weak, reflux of food occurs easily. This
is commonly what causes babies to
spit up after a feeding.
Peristalsis is a series of coordinated
muscular contractions. It is the mechanism that moves food along the digestive tract. Food starts at the mouth
and is moved along the alimentary canal
toward the anus. Peristalsis is independent of gravity and is the main force that

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moves the bolus of food down the


esophagus and into the stomach. When
a bolus of food stretches a segment of
the digestive tract, the smooth muscle
behind the bolus contracts while the
smooth muscle in front of the bolus
relaxes. This coordinated contraction of
the circular and longitudinal muscle
layers produces a wave of constriction

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that propels food forward at a rate that


is appropriate for digestion and
absorption.
a)
bolus of food
tongue
pharynx
epiglottis

trachea
b)

Image omitted due to copyright restrictions.


Epiglottis protects
opening to larynx.

esophagus
c)

FIGURE 8.11 A cross-section of the esophagus

Discovering Biology

A Model of Peristalsis

Peristalsis is the mechanism that moves food along the digestive


tract. Take an old nylon stocking and cut off both ends, so that it is
tube-like. Now, take an orange and attempt to pass the orange from
one end of the
nylon tube to the
a)
other.
 What kinds of
things do you
have to do to
keep the orange moving
b)
through the
nylon tube?


How is this
model similar
to peristalsis?

d)
esophagus

cardiac sphincter
stomach

FIGURE 8.13 The movement of food down the

How is it different?

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esophagus
bolus of food

esophagus

FIGURE 8.12 A model of peristalsis

260

larynx

Internal Systems

a) Upper esophageal sphincter contracted.


b) Upper esophageal sphincter relaxed.
c) Bolus of food passes to esophagus.
d) Peristalsis moves bolus of food toward
stomach. Cardiac sphincter still closed.

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The Stomach The human stomach is a


J-shaped stretchable organ that is able
to hold approximately 1.5 L of food. The
stomach acts as a reservoir to receive all
the food at once, before releasing it into
the intestine at intervals. Sphincter muscles regulate the movement of food
throughout the digestive tract. Two
sphincter muscles control the passage of
food coming into and out of the stomach: the cardiac sphincter and the
pyloric sphincter. The contraction of the
cardiac sphincter closes the opening to
the stomach but when this sphincter
relaxes, food is allowed to enter. The cardiac sphincter gets its name from its
location close to the heart. The stomachs muscular walls churn and squeeze
each bolus that enters the stomach from
the esophagus. Thick layers of smooth
muscle, and numerous folds in the stomach, called rugae, enable the stomach
to expand. When expansion occurs, the
smooth muscle stretches and the rugae
gradually disappear. This stretching can
be compared to the coiled cord on a telephone. When the cord is stretched, the
coils disappear, and the wire straightens
out and lengthens.
Within the stomach, food is mechanically digested and mixed with
gastric juices. Gastric glands in the stomach lining contain cells that secrete
hydrochloric acid, and other cells that
secrete pepsinogen, an inactive form of
pepsin. In the stomachs acidic environment, pepsinogen is converted into
pepsin, an enzyme that breaks down
protein. Pepsin can actively break down
protein only at a low pH. The pH of the
stomach is 2; therefore, protein digestion is initiated in the stomach. A second enzyme found in the stomach of
children is rennin. This important enzyme slows down the movement of milk
through the digestive tract by clotting
the milk and so allows more time for the
breakdown and absorption of nutrients.
Hydrochloric acid not only provides an
ideal acidic environment for pepsin to
function, but it also sterilizes the upper
digestive tract and destroys invading

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microbes that may be ingested with the


food. Mucus is secreted by mucous cells
within the gastric glands. It lines the
stomach, forming a protective coating
against the corrosive effects of the hydrochloric acid. Approximately 500 mL
of gastric fluid is produced after the consumption of a large meal; about 1500 mL
of gastric juice is secreted daily.
Chemical and physical digestion in
the stomach changes the food bolus into
a liquefied paste called chyme. Muscular
contractions of the stomach wall that mix
food with gastric secretions also propel
the mixture through a ring of smooth
muscle, called the pyloric sphincter, into
the small intestine. The sphincter is usually partly open so that small amounts
of chyme (about 5 mL) squirt into the
duodenum with each wave of gastric
peristalsis. Some chemical digestion, but
no absorption of any significance, occurs
in the stomach.
Stomach ulcers are very common
disorders. They are caused when the hydrochloric acid creates a hole through
the mucous lining of the stomach.
Excessive hydrochloric acid secretion
contributes to peptic ulcers. Beneath the
thin layer of stomach cells lies a rich

INFOBIT
Heartburn occurs when stomach acids reflux into the
esophagus. The esophagus
does not have a mucus lining
to protect it and as a result,
the acid irritates the cells,
causing a burning sensation.

esophagus
muscular
wall

STOMACH
pyloric sphincter
duodenum of
small intestine

rugae

FIGURE 8.14 An internal and external view of the stomach

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INFOBIT
Aspirin and alcohol are two
examples of the few substances that can be absorbed
into the bloodstream through
the lining of the stomach.
This explains why pain relief
occurs soon after ingesting an
aspirin and why intoxication
can happen rapidly.

Investigation
Refer to page 349,
Fetal Pig-Dissection
Investigation 3

WEBLINK
Absorption through the wall of
the small intestine is the
mechanism by which nutrients
can be taken up by the body.
Research active and passive
cellular transport mechanisms
in absorption and set up a
T-chart. Begin your research at
www.pearsoned.ca/ biology11.

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network of capillaries. Acids irritate the


cells of the stomach lining, resulting in
further irritation. Therefore, antacids
usually provide prompt pain relief as
they neutralize excess acid. Recent investigations suggest that many stomach
ulcers are the result of infection by the
bacterium Helicobacter pylori. This infection results in the loss of protective
mucus and so allows damage to the
stomach wall. Many ulcers can be cured
permanently by antibiotics that treat the
underlying bacterial infection.

The Small Intestine Ingestion takes food


into the mouth and alimentary canal, but
not into the body. The small
intestine, the major site of digestion and
absorption, enables food substances to
enter the bodys internal environment.
The small intestine consists of three consecutive sections called the duodenum,
jejunum, and ileum. Chyme containing
digested food particles enters the small
intestine. The partially digested food is
further subjected to mechanical digestion through segmentation movements.
In these movements, segments of the intestine that are not adjacent alternately

Duodenum:
receives secretions
from pancreas
and liver

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contract and relax. This results in a thorough mixing of the contents with intestinal juices before the chyme is
propelled further along the alimentary
canal. Intestinal juices contain secretions
from the small intestine and from large
accessory digestive glands, the pancreas
and the liver. The ileocaecal valve is an
anatomical landmark that separates the
small intestine from the large intestine.
The small intestine is considerably
longer than the large intestine. The name
small intestine is attributed to its
diameter, which is smaller than the
diameter of the large intestine. The small
intestine is as long as 6 m on average,
but the large intestine is only about
1.5 m in an adult.
Mechanical and chemical digestion
is ongoing as food travels through the
digestive tract. Once the food reaches
the small intestine, it is broken down to
its simplest form and ready for absorption. Almost every nutrient digested is
absorbed into the body through the walls
of the small intestine. Intestinal absorption uses active and passive cellular
transport mechanisms. Some transport
mechanisms are unique to the intestinal

SMALL INTESTINE

Jejunum:
performs most of
digestion and
chemical
absorption

Ileum:
absorption
continues

large
intestine
FIGURE 8.15 The small intestine

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absorptive cells. After passing across the


mucosal epithelium, the water-soluble
nutrients flow into the blood capillaries
of the villi for transport to the liver and
then to all the bodys cells. The products
of fat digestion are absorbed into the
lacteals, tiny lymphatic vessels in the
villi, that connect to the lymphatic
system. See Figure 8.16.

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The lining of the small intestine has


finger-like extensions of the mucosa
called villi that project into the lumen.
In turn, the surface of each cell in a
villus is covered with a carpet of tiny
microvilli. The net effect of the villi and
microvilli is to increase the surface area
of the intestine to maximize its ability to
absorb food. Approximately 80% of all

INFOBIT
It takes food approximately five
hours to pass through the
human small intestine. The
total surface area available for
absorption of nutrients is approximately 300 m2, about the
size of a tennis court.

FIGURE 8.16 The intestinal wall

a) One fold with many villi


b) The structure of the intestinal wall
one plica or fold

c) The surface cells of a villus carry microvilli

a)

villi
microvilli

epithelium

mucosa

capillary network

lacteal
sub
mucosa

circular
muscle

longitudinal
muscle

lymphatic
vessel

serosa
c)
b)
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absorption occurs in the small intestine.


The remaining 20% of the absorption occurs in the stomach and the large intestine. The possibility of maximizing
surface area to allow for efficient diffusion of substances is an important theme
in biology. Single cells divide to keep the
ratio of cell surface to volume at the optimum for diffusion. In the small intestine the villi and microvilli increase the
surface area available for diffusion of nutrients into the cells of the intestinal wall.
Villi are nestled within a network of capillaries that allows for easy diffusion and
transport from cells in the intestinal wall
to the blood. In this way the products of
digestion of food can be transported and
distributed to all body cells.

WORDORIGIN
Itis, from the Greek it is, indicating sickness or disease; so
appendicitis means an inflammation of the appendix and
colitis means an inflammation
of the colon.

WEBLINK
Using the Internet, research
signs and symptoms that a
person suffering from Crohns
disease might display.
Begin your research at
www.pearsoned.ca/biology11.

LARGE INTESTINE

Colon:
reabsorption
of water and
vitamins

ileum of
small intestine

Caecum:
receives material
from s