PORTLAND STATE BI 341

CHAPTER 2 TRANSMISSION GENETICS: HERITAGE

FROM MENDEL

Kim H. Brown, PhD

Gregor Mendel
• G. Mendel carried out his
experiments from 1856 to 1863
in a small garden plot nestled in
a corner of the St. Thomas
monastery in the town of Brno
• He published the results and his
interpretation in its scientific
journal in 1866
• Mendel’s paper contains the
first clear exposition of the
statistical rules governing the
transmission of hereditary
elements from generation to
generation
Objectives
1. Mendel’s Laws
1. The principle of segregation (First Law)
2. The principle of independent assortment (Second Law)
3. Principle of Dominance (Third Law)
2. Crosses
1. Monohybrid, Dihybrid, Trihybrid
2. Modern genetics vs Mendelian genetics
3. Testcrosses
3. Using probability to predict patterns of inheritance
4. Applying Mendel’s laws to the real world
5. Exceptions to Mendel’s Laws:
• Incomplete dominance, Codominance, Multiple alleles, Epistasis

The Cilantro Gene: https://www.youtube.com/watch?v=tftEbb7T8AA

 Mendel’s Genetic Hypothesis
• Each parent contributes to its progeny distinct elements of
heredity = factors = genes
• Factors remain unchanged as they pass through
generations
• Mendel thought in quantitative, numerical terms. He looked
for statistical regularities in the outcome from his crosses
Homologous chromosomes may contain
different versions the same genes

Alleles: versions of a gene e.g. Black, brown, or blond hair in

humans
Garden Peas: The First Model Organism
in Genetics
• Mendel chose the
common garden pea
(Pisum sativum) as his
model organism because
• It is easy to grow
• Its reproductive cycle is
short
• It produces large numbers
of seeds
• Its matings are easy to
control
• Its traits are easily
recognizable
How Did Mendel Arrange Matings?
Self-fertilization: when
plants fertilize themselves
Cross-pollination
1. Mendel could prevent
self-pollination by
removing the male
reproductive organs
containing pollen from
each flower
2. He then used this pollen
to fertilize the female
reproductive organs of
flowers on different
plants
 What Traits Did Mendel Study?
• Mendel worked with pea
varieties that differed in seven
easily recognizable traits:
• Seed shape, seed color, pod
shape, pod color, flower
color, flower and pod
position, and stem length
• An individual’s observable
features comprise its
phenotype
• Mendel’s pea population had
two distinct phenotypes for
each of the seven traits
What Traits Did Mendel Study?
• Mendel worked with
true breeding plants
• They produced identical
offspring when self-
pollinated and
• He used these plants
to create hybrids
• He mated two different
pure lines that differed in
one or more traits
Mendel’s Experiments
• In a cross of two true-
breeding plants with
different forms of a
trait, such as round
and wrinkled seeds, all
of the F1 progeny
exhibited only one
parental trait (round
seeds)
 Mendel’s Experiments
• In F2 generation obtained by self-fertilization of F1 plants, the
observed ratio of visible traits was 3 round : 1 wrinkled
• Outcome of a cross was independent of whether the trait came
from the male or female parent: reciprocal crosses produced
the same result
Mendel’s Hypothesis
• Each true-breeding parent has two identical copies of the
genetic information specifying the trait = homozygous
• Each gamete contains only one copy of a hereditary
factor specifying each trait
• Random fertilization unites two copies of the gene in the
progeny
• F1 progeny contains different variants (alleles) of the
gene = heterozygous
Mendel’s Hypothesis
• The genetic constitution of an organism = genotype
• The observable properties of an organism = phenotype
• In the cross between round and wrinkled seed pea plants:
• Round seed parent has two identical copies of genetic
information genotype = AA
• The genotype of a wrinkled seed parent = aa
Dominance
• Round seed parent contributes “A” gamete to offspring
• Wrinkled seed parent contributes “a” gamete to offspring
• Offspring genotype = A + a = Aa contains one copy of “A”
and one copy of “a”
• All offspring produce round seeds although their genotype is
“Aa” because “A” is dominant and “a” is recessive

TedEd Video:
http://ed.ted.com/lessons/ho
w-mendel-s-pea-plants-
helped-us-understand-
genetics-hortensia-jimenez-
diaz
Round vs. Wrinkled: Modern Context
• The gene that determines the shape of a seed encodes an
enzyme, starch-branching enzyme I (SBEI), required to
synthesize a branched-chain form of starch known as
amylopectin
• Round (W) seeds contain amylopectin and shrink uniformly as
they dry
• Wrinkled (w) seeds lack amylopectin and shrink irregularly
 Wrinkled peas have an inborn error in
starch metabolism
• In the wrinkled (w) mutation the
SBEI gene is interrupted by the
insertion of a DNA sequence
called a transposable element
• Transposable elements = DNA
sequences capable of moving
(transposition) from one
location to another
• Barbara McClintock:
http://scishow.tumblr.com/post/
24179548861/great-minds-
barbara-mcclintock-hank-tells-
us
Round vs. Wrinkled: Modern Context

• A procedure called gel

electrophoresis is used to
separate DNA molecules of
different sizes

• Gel electrophoresis:
http://www.youtube.com/w
atch?v=3i-DxJ3oJzE
 Round vs. Wrinkled: Modern Context
• DNA fragment
corresponding to
the W form of the
SBEI gene moves
farther than the w
fragment, because
the w fragment is
larger (owing to the
insertion of the
transposable
element)
 Round vs. Wrinkled: Modern Context
• Classical geneticists studied primarily
morphological traits = the shape of a
seed is manifestly round or wrinkled

• Modern geneticists study

morphological traits, too, but they
supplement this with molecular traits =
the pattern of bands in a gel

• Morphological traits are frequently

dominant or recessive, but this is not
necessarily true of molecular traits
 Round vs. Wrinkled: Modern Context
• When alternative forms of a gene (W
and w) can both be detected when they
are present in the cell, we say that the
forms of the gene are codominant

• Molecular traits are often (but by no

means always) codominant

• Dominance is not an intrinsic feature of

a gene; it rather depends on the
method we chose to examine it
 Segregation
• When an F1 plant is self-fertilized, the W
and w determinants segregate from one
another and are included in the gametes
in equal numbers

• The gametes produced by segregation

come together in pairs at random to yield
the progeny of the next generation

• In the F2 generation, the ratio of the

progeny with dominant trait to the
progeny with recessive trait is 3:1. In
case of round and wrinkle seeds, 3/4
round and 1/4 wrinkled offspring
 The Principle of Segregation
• In the formation of gametes, the paired hereditary
determinants (genes) segregate in such a way that each
gamete is equally likely to contain either member of the pair
 Monohybrid Genetic Cross
• Genetic cross : Ww X Ww produces
W and w gametes from each parent
• Punnett square shows four possible
outcomes = WW, Ww, wW, and ww
• Three combinations = WW, Ww, and
wW produce round phenotype
• Fourth combination = ww displays
wrinkled phenotype
Test cross: distinguishing heterozygotes
from homozygotes
• A testcross is a way to determine whether an individual
displaying the dominant phenotype is homozygous or
heterozygous for that trait, using a cross with
homozygous recessive
Dihybrid Cross
• Mendel studied inheritance of two
different traits, such as seed color
(yellow vs. green) and seed shape
(round vs. wrinkled) in the same
cross = dihybrid cross
• The F1 progeny: hybrid for both
characteristics
• In the F2 progeny: 9 round yellow :
3 wrinkled yellow : 3 round green : 1
wrinkled green ratio
 Dihybrid Cross

• In the F2 progeny, if the 3:1 ratio of

round: wrinkled is combined at
random with the 3:1 ratio of yellow:
green, it yields the 9:3:3:1 ratio of a
dihybrid cross
 Independent Segregation

The Principle of Independent

Assortment:

Segregation of the members of

any pair of alleles is
independent of the
segregation of other pairs in
the formation of reproductive
cells.

Bozeman Science Video: A review of the concepts so far

http://www.bozemanscience.com/genetics/
 Dihybrid Testcross

• The progeny of
testcrosses show the
result of independent
assortment
• The double heterozygotes
produce four types of
gametes in equal
proportions, the ww gg
plants produce one type
 Two Trait Testcross
• The progeny phenotypes
are expected to consist of
round yellow, round green,
wrinkled yellow, and
wrinkled green in a ratio of
1:1:1:1
This observation confirmed
Mendel’s assumption that
the gametes of a double
heterozygote included all
possible genotypes in
approximately equal
proportions
 Trihybrid Genetic Cross
• Trihybrid cross = three pairs of elements that
assort independently, such as RrYyCc
• How do we predict phenotypes and genotypes?
The punnett square for a trihybrid cross:
Labor intensive!
Mendelian patterns of inheritance follow laws of
probability
• Addition Rule (OR):
The probability of two
mutually exclusive
events is the sum of
their separate
probabilities
• Probablity of a W
phenotype = Prob
{WW or Ww} = Prob
{WW} + Prob{Ww} =
0.25 + 0.50 = 0.75
Probabilities
• Multiplication Rule (AND): The
probability of two independent
events being realized
simultaneously is given by the
product of their separate
probabilities

• Probability of the W phenotype

AND the G phenotype (in F2)=
Prob {WG} = Prob {W} x Prob{G}
= (3/4) x (3/4) = (9/16)
 The trihybrid cross:
A worked
problem FfBbTt x FfBbTt
Using the
product rule, Ff x Ff -->1/4 FF
determine the
probability Bb x Bb --> 1/2 Bb
that a tri- Tt x Tt -->1/4 tt
hybrid cross 1/4 x 1/2 x 1/4 = 1/32
would result in
offspring with
the genotype
FFBbtt
addition and
multiplication rules
determine the
probabilities of the nine
genotypes and four
phenotypes in the F2
progeny

Bozeman Science Video: Probability in Genetics

https://www.youtube.com/watch?v=y4Ne9DXk_Jc
In a cross between two individuals BbGG X
Bbgg, what ratio of phenotypes would be
expected in the offspring if the two genes show
independent assortment?
d) 3:1
While we are looking at two genes, the "G" locus cross is
GG x gg. The resultant offspring will all be Gg, and have
the dominant phenotype. As a result, only the
Bb x Bb cross contributes to the variation.
P BbGG X Bbgg
Gametes 1/ BG, 1/2 bG X 1/ Bg, 1/2 bg
2 2

F1 Genotypes 1/ BBGg, 1/4 BbGg, 1/4 bBGg, 1/4 bbGg

4

F1 Phenotypes 3 B-Gg, 1 bbGg

Objectives
1. Mendel’s Laws
1. The principle of segregation (First Law)
2. The principle of independent assortment (Second Law)
3. Principle of Dominance (Third Law)
2. Crosses
1. Monohybrid, Dihybrid, Trihybrid
2. Modern genetics vs Mendelian genetics
3. Testcrosses
3. Using probability to predict patterns of inheritance
4. Applying Mendel’s laws to the real world
5. Exceptions to Mendel’s Laws:
• Incomplete dominance, Codominance, Multiple alleles, Epistasis
 Applying patterns of inheritance to human traits

• In humans, pedigree analysis is used to determine individual

genotypes and to predict the mode of transmission of single
gene traits
 Autosomal Dominant
• Huntington disease is a progressive nerve degeneration,
usually beginning about middle age, that results in severe
physical and mental disability and ultimately in death
• The trait affects both sexes

• Every affected person has an affected parent

• ~1/2 the offspring of an affected individual are affected

 Autosomal Recessive
• Albinism = absence of pigment in the skin, hair, and iris of the
eyes. The trait affects both sexes
• Most affected persons have parents who are not
themselves affected; the parents are heterozygous for the
recessive allele and are called carriers
• Approximately 1/4 of the children of carriers are affected
and the parents of affected individuals are often relatives
 Albinism results from a defect in melanin production
 Melanin is the dark pigment that colors skin cells
 Melanin is produced by the enzyme tyrosinase
 An allele known as TYR (for tyrosinase) encodes a defective
tyrosinase protein in skin cells, producing no melanin and a
condition called albinism

 Humans and other

mammals who are
homozygous for TYR
have no color in their
skin, fur, or eyes (the
skin and hair appear
white, and the eyes
are pink)
Objectives
1. Mendel’s Laws
1. The principle of segregation (First Law)
2. The principle of independent assortment (Second Law)
3. Principle of Dominance (Third Law)
2. Crosses
1. Monohybrid, Dihybrid, Trihybrid
2. Modern genetics vs Mendelian genetics
3. Testcrosses
3. Using probability to predict patterns of inheritance
4. Applying Mendel’s laws to the real world
5. Exceptions to Mendel’s Laws:
• Incomplete dominance, Codominance, Multiple alleles, Epistasis
 Rules for Mendelian Rules

Mendel’s rules apply only if:

1. Each trait is completely controlled by a single gene
2. Only two possible alleles of each gene exist
3. One allele is completely dominant to the other,
recessive, allele
4. Most traits are influenced in more varied and subtle
ways
 Sex-Linked Traits
 Animals have a set of sex
chromosomes that dictate
gender
 In mammals, females have two
X chromosomes (XX)
 In mammals, males have an X
chromosome and a
Y chromosome (XY)
• The Y chromosome is much smaller
than the X chromosome
 The rest of the (non-sex)
chromosomes occur in identical
pairs and are called autosomes
Sex-Linked Traits are found only on the X or only on the
Y chromosome
• Females (XX) can be
homozygous or heterozygous
for a characteristic
• Males (XY) have only one
copy of the genes on the X or
the Y
• Because males, with only one
X chromosome, have no
second copy to mask recessive
genes, they fully express all the
X-linked alleles they have,
whether those alleles are
dominant or recessive
Red-green color blindness
• Color blindness is caused by
recessive alleles (c) on the X
chromosome
• The dominant alleles (C) encode
for pigments which detect red or
green light
• A man can have the genotype CY
or cY
• A woman may be CC, Cc, or cc
because she has two X
chromosomes that each can carry
an allele for the trait, and will only
be color-blind if her genotype is cc
 Hemophilia
Hemophilia is caused by a recessive allele on the X
chromosome that results in a deficiency in one of the
proteins needed for blood clotting
 Incomplete Dominance
The phenotype of the
heterozygotes is intermediate
between the phenotypes of the
homozygotes
Human hair texture
 A person with two copies of the
H1 allele has curly hair
 Someone with two copies of the
H2 allele has straight hair
 Heterozygotes (with the H1H2
genotype) have wavy hair
 If two wavy-haired people
marry, their children could have
any of the three hair types: curly
(H1H1), wavy (H1H2), or straight
(H2H2)
 Codominance/Multiple Alleles for a Single Gene

A single gene may have multiple alleles

• An individual may have at most two
different gene alleles, however there
may be more than two possible
alleles in an population
Human blood group genes produce
blood types A, B, AB, and O as a result
of various combinations of three alleles
in this system: A, B, and O
• Alleles A and B are dominant to allele
O
• Alleles A and B are codominant
(both phenotypes expressed)
• People with AA or AO genotypes
have blood type A; people with BB or
BO genotypes have blood type B;
people with OO genotypes have
blood type O
 Multiple Alleles/Codominance
• Codominance means that
the heterozygous genotype
exhibits the traits associated
with both homozygous
genotypes
• Codominance is more
frequent for molecular traits
than for morphological traits
• Multiple alleles = presence in
a population of more than
two alleles of a gene
• ABO blood groups are specified
by three alleles IA, IB and IO
• IA and IB codominant, both IA and
IB are dominant to IO
 Polygenic Inheritance: traits are influenced by
several genes
• Ex: height, skin color, and grain color in wheat
• Traits affected by polygenic inheritance are often strongly
affected by the environment, further blurring the differences
among phenotypes
• According to research, human height is controlled by at least
180 genes
• Human skin color is controlled by at least three genes, each
with pairs of incompletely dominant alleles
 Epistasis

• Epistasis refers to any type of gene

interaction that results in the F2
dihybrid ratio of 9:3:3:1 being
modified into some other ratio
• In a more general sense, it means
that one gene is masking the
expression of the other
• Flower color in peas: formation of
the purple pigment requires the
dominant allele of both the C and P
genes: the F2 ratio is modified to 9
purple:7 white