Notes Genetics and Selective Pressures 2017 Teacher

Ms.
Smedley – Science 10 - Biology NAME____________________
Biology – Genes are the Foundation for Diversity of All Living Things
By the end of this booklet, you should know these key terms:
allele heterozygous phenotype
codominance homozygous phenotypic ratio
dominant hybrid Punnett square
F1 generation incomplete dominance purebred
F2 generation masked recessive
gene monohybrid cross sex linkage
mutation adaptation biotic
abiotic selection pressure predation
invasive species amniocentesis succession
natural selection artificial selection adaptive radiation
Genetics follows a set of rules that govern inheritance.

The Role of Genes
Genetics is the study of how inheritable characteristics, such as eye colour in humans and
flower colour in plants, are passed on from generation to generation. Before examining
patterns of inheritance associated with these characteristics, it’s useful to gain an
understanding of genes and how they relate to the production of protein. Protein made by our
cells determines a vast number of characteristics – from how tall we are likely to grow, to the
complexion of our skin, to the colour of our hair and to which gender we present as. Genes
contain the information needed to make protein. And genes are what parents pass to their
offspring during reproduction.
Molecular biologists made many discoveries in the last century about how genes work. In doing
so, they discovered the genetic code – the chemical language through which all the information
needed to produce a complete human is transmitted. They found that:
 The nucleus contains a master set of instructions that determines what each cell will
become, how it will function and how long it will live before being replaced.
 This set of instructions, also called genetic information, is located in our chromosomes
inside the nucleus. These are divided into segments called genes. Chromosomes are
composed of long strands of a molecule called deoxyribonucleic acid (DNA) found in
living cells. See Figure 1.
 Every living organism has a specific number of chromosomes. Humans has 46 in total, 23
from each parent.
 Genetic information is used by our cells to make protein. Genes determine which of the
20 kinds of amino acids are to be linked together to make a protein molecule. Protein
molecules can take many forms such as chains, coiled springs and pleated sheets.
 Information from DNA (located in nucleus of cell) is transferred to the ribosomes that
assemble the proteins (outside of the nucleus) via RNA (ribonucleic acid).
 Proteins are important as building blocks of cells, cell messengers and catalysts to help
speed up chemical reactions within the body.
 All known life forms use the same genetic code and the same, or closely related, cellular
apparatus to produce protein.
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Ms.Smedley – Science 10 - Biology NAME____________________
 The genes in humans and chimpanzees are 98% identical. We even share many genes
with organisms that appear vastly different from us. For example, almost all the genes
present in a tiny worm called a nematode are also present in humans (although we have
many additional ones that they do not have).
FIGURE 1 – DNA makes up chromosomes found in the nucleus

The Genetic Code
All cells contain an intricate biochemical apparatus that reads the information in genes and
then uses it to construct protein. This apparatus is passed on from the parent cell to the
daughter cell during cytokinesis, the division of the cell cytoplasm following mitotic or meiotic
division of the nucleus.
DNA is a double helix (twisted ladder) structure (see Figure 2) that has the ability to self-
replicate (make copies of itself). The sides of the ladder are composed of a sugar and a
phosphate group and the rungs of the ladder are composed of nitrogen bases. The
arrangement of these bases is what determines the genetic and is what directs all cell activity.
The bases are like letters that carry a message (i.e. the ‘code’) and the code gives instructions
for a specific task.
The four bases in a DNA molecule are represented by the letters G, C, A and T (Guanine,
Cytosine, Adenine and Thymine). These display complementary base pairing, meaning that G
always pairs with C and A always pairs with T.
FIGURE 2 – The structure of a DNA molecule
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DNA evolves (changes through mutations and recombination). This allows for new
characteristics and abilities to appear which may help an individual to survive and reproduce.
The Birth of Genetics

Children usually resemble their birth parents. Brothers and sisters also carry resemblances to
each other, as well as to their grandparents, cousins, uncles and aunts. Somehow parents pass
on a mixture of family characteristics to their children. This section will explore the basis for the
inheritance of visible characteristics from one generation to the next.
Try the following experiment. Clasp your hands together, allowing your fingers and thumbs to
interlock. Once you have done this, check to see whether your right or your left thumb is on
top. See Figure 3. Now, reverse the position so that the other thumb is on top. Did you find that
you have a preference for one position over the other? Compare your preference with your
classmates and, when you get home, your parents and siblings.
FIGURE 3 – Hand clasping options.

We don’t get to choose which hand-clasping position is the most comfortable – the preference
is inborn, meaning it is based on your genetics. This is because we inherit the preference from
our parents. Surprisingly, sometimes both parents will have the opposite preference compared
to one or more of their children. In these cases, it’s worthwhile looking for patterns in the
preferences of the four grandparents. It turns out that observations made across three
generations are essential in sorting out patterns of inheritance. Gregor Mendel (1822-1884), an
Austrian monk, realized this and made the first careful observations of inheritance. His insights
lead to the development of the science of genetics.
Mendel’s Experiments with Peas

Although Gregor Mendel lived in a monastery (in what is now the Czech Republic) he was in no
way isolated. He was well educated and communicated with prominent scientists. He was
responsible for the cultivation of pea plants (and other plants) in the monastery’s garden. He
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kept very careful records that show he grew 50, 000+ pea plants over a ten-year period (=good
experimental design). This allowed him to observe patterns in very large sample sizes. Pea
plants turned out to be excellent organisms to study for a number of reasons:
 Several generations of plants could be grown during one season.
 Pea plants have the ability to both self-pollinate and cross-pollinate. This means that a
single pea plant has both male and female reproductive structures and that the plant
can fertilize itself. If pollen moves between two plants, then cross-pollination can occur.
 It is easy to control whether a plant self-pollinates or cross-pollinates by covering or
removing reproductive structures in the flower, and by using a paintbrush to collect and
transfer pollen within or between plants.
 Pea plants have a number of easily observable inheritable characteristics that are strictly
“either/or” (Figure 4). For example, a pea plant is either tall or short – they do not
normally grow an in-between height. Mendel’s pea plants also had either purple flowers
or white flowers. No other colours, not even light purple, occurred.
FIGURE 4 – Mendel studied several “either/or” characteristics in pea plants.

Genetics Vocabulary
The table below includes some of the vocabulary that was introduced after Mendel’s time.
Knowing these terms is useful when studying his experiments today.
Term Description
Characteristic = an observable feature that can appear in more than one form, such as flower colour
Trait = a variation that can exist for a characteristic. The flowers on Mendel’s pea plants
were either purple or white. Mendel was interested in how these traits were passed
from one generation to another.
Purebred = a purebred pea plant is one in which all offspring and their descendants have the
same trait for a particular characteristic when they are self-pollinated. Mendel used
purebred plants for his experiments, which helped in the analysis of his results.
Hybrid = results from the mating or crossing of two purebred plants that have different
traits, such as crossing a plant with purple flowers with one that has white flowers.
This is written as “purple x white.”
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Monohybrid = refers to a crossbreeding experiment that follows the inheritance of a single

Cross characteristic across one or more generations.
Monohybrid Cross Experiment

Mendel found it was necessary to follow at least three generations to determine inheritance
patterns. At first, he followed only one characteristic at a time, such as flower colour or plant
height. Mendel labelled the first three generations of his monohybrid cross as follows;
 P generation – the parent generation. Often the parents would be purebred for a given
trait.
 F1 generation – the first filial (child/offspring) generation. The F1 offspring are usually
hybrids.
 F2 generation – the second filial generation. The offspring of the F1 generation when the
F1 generation is self-pollinated, or when two individuals from the F1 generation are
crossed.
Mendelian Patterns of Inheritance a.k.a Complete Dominance

Mendel observed inheritance of flower colour by crossing purebred plants with the purple
flower trait with purebred plants having the white flower trait (P generation: purple x white).
When he did this, all the offspring (F1 generation) had purple flowers. It seemed that the white
trait had disappeared. Mendel called the purple trait “dominant” and the white trait
“recessive.”
 A dominant trait is fully expressed in the offspring, even in a hybrid.
 A recessive trait is not expressed in a hybrid, meaning that the recessive trait is not
visible.
Mendel then took all the offspring, all with purple flowers, and either self-pollinated them, or
pollinated them with other plants in the F1 generation. The results were astounding: about ¾ of
the third generation (F2 generation) continued to have the purple trait, but about ¼ had
completely white flowers! The recessive trait had reappeared, totally undiluted by the
dominant trait.
Mendel reasoned that the recessive white flower trait must have been present in the F 1
generation but was masked, or hidden. He noted that in the F2 generation, the traits appeared
in a 3:1 ratio of the dominant trait (purple) to the recessive trait (white). See Figure 5.
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FIGURE 5 – Mendel crossed purebred parents (P generation) and followed the traits across the F1 and F2 generations.
Quick Check
1. It is possible for the sperm and egg from the same pea
True False
plant to combine to produce healthy offspring.
2. The F2 generation are the parents of the F1 generation. True False
3. When two purebred plants with different traits for the
True False
same characteristics are crossed, the offspring is always a
hybrid.
4. If two possible traits are yellow peas and green peas, the True False
characteristics for this trait could be called ‘pea colour.’
5. The “either/or” nature of stem length means that the True False
stem can either be long, short or an in-between length.
Probability
Since the outcomes of his breeding experiments resulted from pure chance, Mendel’s results
did not always show an exact 3:1 ratio. For example, in one series of crosses, the results for the
F2 generation were 705 purple flowering plants to 224 white. This is a ratio of 3.15:1. Far from
being a mistake, this suggested that probability was a work in determining the passing on of
traits. Probability is a measure of the likelihood that one or another kind of outcome can
happen, and it is governed by the rules of chance. This understanding helped Mendel to
generate his gene hypothesis.
Mendel’s Gene Hypothesis

Without any knowledge of chromosomes or DNA (discovered in 1883 and 1869 respectively),
but with all the data from his numerous experiments, Mendel generated the following ideas;
 A hereditary unit of information, called a gene, is passed from parent to offspring. Today
we know that a gene is a length of DNA located in a particular place on one of an
organism’s chromosomes.
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 An allele is one of the possible versions of the gene, such as the allele for purple flowers
or the one for white flowers. In Figure 6, you can see on the chromosomes (one from
each parent) the possible alleles for eye colour in humans. The DNA sequence for purple
colour (or eye colour in humans) is different from the DNA sequence for white colour.
This means that different proteins are produced depending on which allele is present. It
is the protein that does the biochemical work of determining the pigment molecules
that will give flowers (or human eyes) their colour.
FIGURE 6
Mendel took his ideas about genes and alleles and made the following hypotheses:
 The presence of different alleles is responsible for the variation in the
appearance of the organism.
 An organism always has two genes present for each characteristic – one
inherited from each parent. (Even in self-pollination, an egg contributes one
gene and a sperm contributes the other).
 If the alleles on both of the genes are the same (e.g. both express purple or both
express white), then the organism is purebred.
 If the two alleles are different, then the organism is a hybrid for a characteristic
such as flower colour. One trait will be dominant and one will be recessive. Only
the dominant trait is expressed.
Most Traits Are Independently Sorted

Mendel studied seven characteristics in pea plants (six of which are shown in Figure 4) and
often he studied more than one characteristic at a time. For example, he might follow patterns
involving plant height, pod shape, and flower colour all at once. He concluded that none of the
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traits had anything to do with any of the other traits. This idea became a major principle for
Mendel, which he called his law of independent assortment.
One way of symbolizing a genetic cross is to use a Punnett square – it makes it easier to predict
the outcome of gene combinations. When using a Punnett square, the allele for the dominant
trait is written using a capital letter (e.g. P for purple flower colour) and the allele for the
recessive trait is written using a lowercase letter (e.g. p for white flower colour).
Develop Your Skills

Mendel’s pea plants had two heights, so the characteristic for height had two traits: tall (T) and
short (t). Remember that the capital T shows that tall is dominant. In this activity, you will use a
Punnett square to predict the outcome of the following experiment:
A purebred tall plant is crossed with a purebred short plant. Individuals from the F 1 generation
are then crossed.
1. Complete the Punnett square for the P generation (TT x tt).
T T
2. Complete the Punnett square to show the crossing of two members of the F 1
generation.
3. What percentage of the F2 generation is tall and what percentage is short?
Phenotype and Genotype

Phenotype refers to the appearance of a particular characteristic in an organism. That is,
phenotype describes which trait is expressed. For example, the flower colour in the pea plants
that Mendel studied showed either the purple or the white phenotype.
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The phenotypic ratio compares the number of each phenotype that is expressed in the
offspring. For example, in a particular cross, if 30 pea plants are tall and 10 are short, the
phenotypic ratio is 3:1.
Genotype refers to the genetic makeup of an organism. The two genes for each trait may have
matching alleles (PP or pp) or non-matching alleles (Pp). They may be alleles that are dominant
(PP) or recessive (pp).
Organisms that have matching alleles are said to be homozygous for that trait (homo = same in
Latin). All purebred traits are homozygous. Organisms may be purebred for the dominant trait
(PP), which makes them homozygous dominant, or for the recessive trait (pp), which makes
them homozygous recessive. Organisms that have non-matching alleles (Pp) are hybrids. They
are called heterozygous for that trait (hetero = different in Latin).
The genotypic ratio compares the number of each genotype that is expressed in the offspring. If
the results in the pea height example above were 10 homozygous dominant (PP), 20
heterozygous (Pp) and 10 homozygous recessive (pp) the genotypic ratio would be 1:2:1.
Develop Your Skills

Another characteristic that Mendel observed in his pea plants was pea shape. A pea was either
round or wrinkled. He found that the dominant trait was round (R) and the recessive trait was
wrinkled (r). In this activity, you will practice using some of the vocabulary introduced in this
unit and determine phenotypic and genotypic ratios for the cross described below.
Questions
1. What is the phenotype of a plant whose genotype is heterozygous for pea shape?
2. What is the phenotype if the genotype is homozygous recessive for pea shape?
3. Fill in this Punnett square to show the cross between a heterozygous and homozygous
recessive for pea shape (Rr x rr).
4. Assume 40 pea plants were produced.

a) How many plants have round peas? _______
b) How many plants have wrinkled peas? ________
c) What is the phenotypic ratio of round peas compared to wrinkled peas? _________
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5. Assume that 60 pea plants were produced.

a) How many plants are heterozygous? ________
b) How many plants are homozygous dominant? ______
c) How many plants are homozygous recessive? _______
d) What is the genotypic ratio of heterozygous plants to homozygous recessive plants? _____
Review Questions
1. A homozygous white hamster is crossed with a heterozygous brown hamster.
a) Which trait is dominant, white or brown?
b) Write the genotype for the white hamster and the brown hamster.
c) Complete the Punnett square showing the cross between the white and brown
hamsters.
d) What percentage of hamster offspring are likely to be white?
2. If a litter of 8 hamsters is born as a result of the cross in question 1, how many of them
are likely to be white?
3. A short-tailed cat mates with a long-tailed cat resulting in 100% of the offspring having
long tails. Then the same short-tailed cat mates with a different long-tailed cat. This
time 50% of the offspring have long tails and 50% have short tails. Explain how this can
happen.
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4. Corn plants can be either tall or short. Imagine a homozygous tall corn plant crossed
with a heterozygous tall corn plant.
a) Which trait is dominant, tall or short?
b) Complete a Punnett square for this cross.
c) What percentage of the offspring do you predict to be

- Homozygous? ________________
- Heterozygous? ________________
d) What percentage of the offspring do you predict to be tall? ______________
e) What is the phenotypic ratio of tall plants compared to short plants?
_____________
5. In hand clasping, the left thumb on top is dominant and the right thumb on top is
recessive. A man notices that when he clasps his hands he prefers to have his right
thumb on top. The man has two sons, both of whom also prefer to have their right
thumbs on top. Is it possible for the boys’ mother has a preference for having her left
thumb on top? Explain your answer.
6. A certain dog is heterozygous for a dark spot on its back. The presence of the spot is the
dominant trait. Having no spot at this location is the recessive trait.
a) Complete the Punnett square for the cross of two dogs that are heterozygous for the
dark spot.
b) In a litter of 8 puppies, how many of them are likely to have no spot on their backs?
c) Is it possible that all 8 puppies could be missing the spot? Explain your answer.
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Other Patterns of Inheritance

Through insight, good luck or both, all of the characteristics that Mendel studied in pea plants
exhibited a pattern of inheritance called complete dominance. All the traits were either
dominant or recessive. This allowed him to formulate the main principles by which genes are
inherited. While Mendel’s principles apply all the time, not all characteristics show complete
dominance. Sometimes characteristics show patterns of inheritance called incomplete
dominance and codominance.
Incomplete Dominance
In this pattern of inheritance, the hybrid expresses a mixture of traits displayed by its purebred
parents. Each trait is present in the hybrid, but is only partly expressed. These offspring are said
to have an intermediate phenotype. In the case of carnation flowers, if a purebred carnation
with red flowers is crossed with a purebred carnation with white flowers, the offspring’s
flowers will be pink! The alleles blend. This is because red-flowering carnations have two alleles
for the red colour. The hybrid has only one allele or half as much red colour, so pink flowers
result. See Figure 7 below and use a Punnett square to answer the question.
FIGURE 7 – The hybrid F1 generation shows incomplete dominance, expressing neither the red or white trait
completely. What happens when the pink hybrid self-fertilizes?
Codominance
In codominance, both traits for a characteristic are completely expressed in the hybrid. Another
factor of codominance is that there are multiple allele types in a population (not just two).
However, an individual can still only possess two of these possible types.
Human blood types display codominance. There are three possible alleles for blood type; I A, IB
and i, with I being recessive to IA and IB. IA and IB are not dominant over each other, they are
codominant, meaning that if you have both of these alleles you will show both phenotypes.
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There are four human blood types; A, B, AB and O and they are determined by the antigen
protein found on the red blood cells. See Figure 8.
A has antigen A
B has antigen B
AB has antigens A & B
O has no antigen
Genotype A B Phenotype
antigen antigen (Blood
Type)
IA IA + - A
A
I i + - A
B
I I B - + B
IB i - + B
A
I I B + + AB
ii - - O
FIGURE 8 – Codominance in A and B human blood types means that if both A and B antigens are present on RBCs,
then the offspring will have AB blood type.
Sex Chromosomes
About 50 years after Mendel conducted his experiments, Thomas Morgan (1866-1945), made
the connection between genes and chromosomes. He studied fruit flies and learned that the
eight chromosomes in fruit flies could be sorted according to size and shape. His experiments
also confirmed the gene-chromosome link underlying Mendel’s hypothesis – that each
organism has only two genes for each trait.
Morgan also discovered that all chromosomes were identical in male and female fruit flies
except for the last two. In a male, the last two chromosomes were not identical in size or shape.
They are called the X and Y chromosome. Any fly with a XY combination is a male. In a female,
these chromosomes are both X, so a female has an XX combination.
It’s the same in humans as well - the only genetic difference between human males and
females is that females have two X chromosomes (XX) and males have one X and one Y (XY).
The other 22 pairs of chromosomes are identical. See Figure 9 below.
FIGURE 9 – The left image shows the XX (female sex chromosomes).The right image shows the XY (male sex
chromosomes)
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The Y chromosome has very few genes on it. Those chromosomes that are present code for
proteins that trigger a host of mechanisms, which activate the production of male hormones.
These hormones (=chemical messengers in living things) affect the way that cells and tissues
specialize. For example, the testes and the ovaries develop from the same tissue in the growing
fetus. The presence of the Y chromosome means that more male hormone will be present and
that the unspecialized tissue will develop into testes rather than ovaries.
Sex Linkage
Up to this point, it hasn’t made any difference which parent carries the dominant or recessive
alleles for a given characteristic. However, some traits are inherited differently depending on
whether the organism is male or female. Genes for these traits are located ONLY on the X
chromosome (NOT on the Y chromosome). X linked alleles always show up in males whether
dominant or recessive because males have only one X chromosome.
Consider the disease hemophilia that prevents blood from clotting. It is caused by an allele on
the X chromosomes. This means that females (XX) have two copies of this gene, but males (XY)
only have one. The hemophiliac allele is recessive and the normal allele is dominant. This means
that for a female to have hemophilia, she has to carry the hemophilia allele on both of her X
chromosomes. If one X chromosome has the allele for hemophilia, but the other has the normal
allele, she will not have the disease. However, since she is a hybrid, we use the term ‘carrier’
since she still has the recessive allele on one of her X chromosomes. If a male has the
hemophilia allele on his X chromosome, he will have the disease because he does not have a
corresponding allele on his Y chromosome that can cause him to be hybrid and mask the
disease. See Figure 10 below to see how this is written in a Punnett square. In this case, the
cross is between a female carrier (XHXh) and a normal male.
FIGURE 10 – The sex-linked chromosomes for the female and male. The disease hemophilia is
distributed differently between the male and female offspring.
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Notice that any XX x XY cross predicts an outcome of 50% female and 50% male offspring. Also
notice that it is always the father’s sex gene that determines the sex of the offspring.
Develop Your Skills

The eye colour of fruit flies is the result of a sex-linked pattern of inheritance. Use the following
symbols for the Punnett square below.
XR = red eye (dominant) Xr = white eye (recessive)
1. Fill in the Punnett square to show the outcome of a mating between a female fruit fly
with two alleles for red eyes and a white-eyes male.
2. What percentage of the offspring will have:

a) White eyes? _________
b) Red eyes? _________
3. Are the male offspring able to pass the trait for white eyes on to the next generation?
Explain your answer.
4. Are the female offspring able to pass the trait for white eyes on to the next generation?
Explain your answer.
5. a) If having white eyes resulted in reduced vision in a fly, would any of the offspring also
have reduced vision? Explain your answer.
b) Would any of the offspring be carriers of the reduced-vision trait? Explain your
answer.
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Mutations affect living things in a variety of ways.

A mutation is a change in the DNA of a gene. Since DNA is involved in the assembly of proteins,
a mutation has the potential for far-reaching effects on the biochemistry of an individual.
Mutations are rarely helpful to an individual, usually having some negative effect or some effect
that is neutral or unnoticeable. However, mutations are responsible for genetic variation within
a population. A population whose members are genetically different is better able to deal with
new diseases or changes in the environment. All the members of a species within an ecosystem
are referred to as a population, for example a flock of seagulls at Jericho Beach.
 Neutral Mutation - sometimes mutations have no effect because they occur in a part of
the DNA that is not used for protein synthesis or the mutated protein is not required for
survival. These are known as neutral mutations and have they have no effect on the
organism. For example there is a mutation in the gene that codes for fur colour in black
bears. It causes the bear to be white in colour (Spirit Bear). Although white, the survival rate
of the organism is not changed.
 Positive Mutation - sometimes mutations can be a good thing (e.g. the mutated protein
works better than the “normal” protein or has a new beneficial function). These are known
as positive mutations and they increase survival rate. For example there is a mutated gene
in some humans that results in proteins that make them resistant to HIV infection. These
people cannot get AIDS. Another example is found in plants that have a mutated gene that
codes for proteins that make them resistant to chemical herbicides.
 Negative Mutation - some mutations are a bad thing because the protein coded by the
DNA does not work properly and the organism needs it to function. These are known as
negative mutations and they decrease survival rates. For example the mutated gene that
causes sickle-cell anemia, a disease that results in misshapen red blood cells that don’t carry
O2. See Figure 11 below. Interestingly though, sickle-cell anemia may actually be a positive
mutation in some circumstances. Many people in central Africa carry the sickle-cell gene,
where it leads to them developing an immunity to malaria, a deadly disease. More on this
later!
FIGURE 11 – Healthy red blood cells compared to sickle red blood cells.
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Causes of Mutations
Mutations can occur naturally during DNA replication and cell division. The human body has
systems in place that will often fix errors in DNA replication, or destroy cells that are working
abnormally due to mutations.
Mutations can change the base sequence (code) of DNA. When the order of the bases change,
the instructions used to make the protein also change. Therefore, different amino acids will be
used, resulting in a different protein. This may alter protein shape, which would cause a change
or a “break” in protein function.
There are also factors in the environment that may increase chances for mutations to occur.
These increase the frequency of mutations above the natural background level. A factor that
causes a mutation is called a mutagen (the suffix ‘gen’ = to produce in Latin). Mutagens are
divided into three groups. See Figure 12.
 Physical (Radiation) – ionizing radiation such as UV light or x-rays can cause a chemical
change in DNA itself, or can cause changes in nearby substances such as oxygen
molecules, which could then damage DNA as it is being formed. Remember from the
Chemistry Unit that when something is ionized it means that electrons have been
moved/removed from their orbits and the atom becomes charged.
 Chemical – many chemicals can cause mutations. For example, burning cigarettes
releases over 4000 chemicals, many hundreds of which are known to be toxins. These
toxins act as poisons and disrupt normal cell function or are carcinogens (cancer-causing
agents). Many chemicals found in pharmaceuticals, cosmetics, food preparation and
manufacturing contain chemical mutagens. Amounts allowed in these products is
(usually) controlled by governmental regulations. How these chemicals cause mutations
is very complicated, just eating/using them in products does not mean a mutation will
occur. Usually they require alteration by enzymes to be activated and how this occurs is
still not completely understood.
 Biological (Infectious Agents) – some species of bacteria and viruses are potential
mutagens. For example, the bacteria Helicobacter pylori causes inflammation (infection)
in the stomach and duodenum of humans, leading to production of chemical reactive
compounds that cause DNA damage and reduce the efficiency of DNA repair systems,
thereby increasing mutation. It is the main cause of ulcers. Viruses, such as the ones
that cause hepatitis B and hepatitis C, are biological mutagens because of the way they
reproduce. A virus invades a cell and then substitutes its own DNA into the cell’s
protein-making apparatus. Some kinds of viruses, such as the one that causes HIV/AIDS,
also can attach their own DNA to a cell’s genes. Any modification of the DNA in this way
(through gene substitution or insertion) is considered to be a mutation.
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FIGURE 12 – Types of mutagens.
Review Questions
1. Identify each of the following as a a) a positive mutation
biological, chemical or physical mutagenic
factor.
a) cigarette smoke _______________
b) sunburn _______________ b) a negative mutation
c) benzene (a component of gasoline)
_______________
d) viral infection _______________
e) nitrosamines, produced in heavily c) a neutral mutation
charred barbequed meat _______________
f) x-rays _______________
2. Suppose a mutation causes a leopard 3. Explain how x-ray radiation can lead to
with a yellow coat and black spots to mutation.
become completely white. Suggest how this
mutation could be considered as:
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Natural Selection and Selective Pressures

Natural Selection – the process in which traits of an organism are selected for/against by
‘nature/natural means’ giving them a mating and survival advantage. It is a slow process
resulting in organisms that are well adapted to their environment. This is the basis for Evolution
(change over time). This change has a genetic basis - naturally caused by mutations during DNA
replication or gene shuffling that results from sexual reproduction or possibly caused by
mutagenic factors outlined in the previous section. The Theory of Natural Selection was first
proposed by Charles Darwin (and Arthur Wallace) in the 1850’s.
How do organisms become well-adapted to their environments?
Recall that mutations are responsible for genetic variation within a population. A population is
defined as all the members of the same species that share a habitat – for example, all the sea
otters of the coast of Northern B.C. Any alteration in the structure or function of an organism or
any of its parts that results from these mutations that allows the organism to become better
fitted to survive and multiply in its environment is called an adaptation. These adaptations will
be selected for, and members of a population with these adaptations are more likely to survive
and reproduce. There are three types of adaptations:
 Structural adaptations: physical parts, colouration or features of an organism that enable it

to survive and reproduce. Examples include camouflage, mimicry, sharp teeth, good
eyesight, bent legs….
 Physiological adaptations: a chemical or physical event that takes place in the body of an
organism to support its ability to survive and reproduce. Examples include snake venom,
plant toxins, enzymes for blood clotting, proteins used for spider silk, antibiotic resistance in
some bacteria
 Behavioural adaptations: things that an organism does (ways that it behaves) that enables it
to survive and reproduce. Examples include migration, hibernation, mating dances, warning
calls, hunting in packs…
Name a few adaptations for the following organisms in their given environment.
Cave Arctic Ocean High School
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Selective Pressures
Because of selective pressures, organisms with certain phenotypes have an advantage when it
comes to survival and reproduction. Over time, this leads to evolution. Now, we'll learn about
various selective pressures and their consequences.
What is Selective Pressure?

Organisms have many different phenotypes, or observable characteristics. Your hair colour and
eye colour are phenotypes, for instance. Many phenotypic variations are neutral, which means
that they don't give organisms a benefit or disadvantage when it comes to survival and
reproduction. People with blue eyes are not any likelier or unlikelier to survive and reproduce
than people with other eye colours.
However, some phenotypes are either selected for or against by the conditions in which an
organism lives. For example, people that live in places with strong sunlight, such as near the
equator, are likelier to survive and reproduce if they have dark skin (more of the protein
melanin) to protect them from UV damage.
A selective pressure is any reason for organisms with certain phenotypes to have either a
survival benefit or disadvantage. In the example above, strong sunlight is a selective pressure
that favours darker-skinned people; lighter skin would be a disadvantage in these regions.
Selective Pressure Leads to Evolution

Selective pressures drive natural selection. Some members of the population will not survive
and reproduce and, thus, will not pass on their genes into the next generation. Gradually, the
population changes, and genes that improve survival and reproduction will become more
common, while genes that are disadvantageous to survival and reproduction will become more
rare. This change in the genetic makeup of a population is called evolution. One very important
concept about selective pressure is that it must occur before reproduction in order to have any
effect on the population. Many selective pressures are present throughout an organism's life,
such as predators and other threats in the environment, diseases that are common in a
population, and things that an organism must be able to do to survive and reproduce.
However, some selective pressures appear suddenly in an organism's life; for example, climate
changes or pesticide treatment. In order for genetic traits to be selected for or against, the
selective pressure has to be there before the organism reproduces.
Examples of Selective Pressure

Selective pressures can take many forms, including environmental conditions, availability of
food and energy sources, predators, diseases, and even direct human influence. Selection
pressures can be density-dependent (affected by population size) or density-independent
(unaffected by population size).
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Predation, Invasive and Keystone Species

Predation occurs when one organism (the predator) eats all or part of another organism (the
prey). Carnivores (predators that eat other animals) are a selective pressure for their prey.
Animals that have sharp eyesight, are poisonous to their predators, can run very fast or can
camouflage themselves or hide from predators will be likelier to survive and reproduce than
animals without these phenotypes. Predators such as cougars that have sharp, pointed teeth to
help them catch prey are more likely to survive and reproduce since they have more nutrients.
Predators and prey evolve in response to each other (“arms race”) and predation is an
important evolutionary force: natural selection favors more effective predators and more
evasive prey.
In nature, predator-prey population cycles are very stable – meaning that each group plays a
role in determining the population numbers of the other. See Figure 13 below.
FIGURE 13 – As the population of prey increases, so does the predators (more to eat). This causes a decrease in the
prey population, which leads to a decrease in the predator population (less to eat). Since there are less predators,
the prey population increases again and the cycle repeats.
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Interactions between organisms in a habitat are usually much more complex than the graph
above may suggest. Sometimes a particular group in the habitat, often a top predator, will have
a greater effect on the population numbers of all the other organisms in the habitat, even if
they are not directly preyed on by the predator. These organisms are called keystone species
and they play a critical role in maintaining the structure of an ecological community, affecting
many other organisms in an ecosystem and helping to determine the types and numbers of
various other species in the community. If the keystone species is removed, the entire
ecosystem would be dramatically altered and may collapse.
The role that a keystone species plays in its ecosystem is analogous to the role of a keystone in
an arch. While the keystone is under the least pressure of any of the stones in an arch, the arch
still collapses without it. See Figure 14 below.
FIGURE 14 – If the keystone is removed, the arch will collapse.
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In the example above, we can see that the African elephant plays an important role in
determining which plant and animal species will survive in this habitat. The keystone species,
the elephant in this case, also acts as a selective pressure for plants who have responded
through the evolution of plant seeds that can survive and are dependent on passing through an
elephant’s digestive tract before they can germinate/grow.
Native species are plants and animals that naturally inhabit an area. Introduced species or
foreign/exotic species are species that have been introduced into an ecosystem by humans
either intentionally or accidentally. They do not naturally inhabit the ecosystem. Introduced
species are usually beneficial or harmless. However, some introduced species, known as
invasive species, can dramatically change or destroy ecosystems. With climate change and the
expansion of international trade and travel, invasive species are entering new ecosystems at an
increasing rate. The rapid spread of introduced invasive species is a major cause of global
biodiversity loss.
Invasive species can have a strong negative impact on resident native species, likely imposing
new selective pressures on them. Altered selective pressures may lead to evolutionary changes
in some native species. Native genotypes that are able to coexist with strong invaders may be
able to survive and reproduce, while native organisms without these genotypes will be
outcompeted by the invasive species for space, nutrients, water, etc.
One example of an invasive species in B.C is Scotch broom (see Figure 15 below), which is
native to the Mediterranean areas of Europe. It was intentionally introduced to B.C. in 1850 by
Captain Walter Grant who planted broom at his farm on Vancouver Island.
FIGURE 15 – Scotch Broom, one of B.C.’s most invasive species.

Regrettably, few realized the invasiveness of this perennial as it quickly spread up the east coast
of Vancouver Island before invading the Gulf Islands and mainland. This invasive plant is a
strong competitor with various native plants including those within declining Garry oak
ecosystems (a keystone species) as well as newly planted coniferous forests. It competes with
native species for available light, moisture and nutrients So far there are no known natural
predators for this weed, therefore allowing it to spread throughout southern B.C. and other
parts of North America.
If some of the native plants evolve traits that give them an increased ability to suppress or
tolerate Scotch broom such as earlier and faster growth, greater height, larger seed size or
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increased resistance to excess nitrogen in the soil (Scotch broom engages in chemical warfare!),
then perhaps these native plants will better survive and reproduce.
Availability of Resources, Nutrient Supply and Energy Flow

What about food and energy sources as selective pressures? In a dense rainforest, plants on the
forest floor will survive and reproduce better if they are able to gather as much light as
possible, perhaps by having very large leaves. Thus, light availability can be a selective pressure
for plants. Food acquisition is also a selective pressure. For example, sharp teeth and the ability
to hunt prey are advantages for carnivores.
Competition is also a selective pressure. For what do organisms compete?
 Energy and matter in usable forms such as carbohydrates
 Space
 Mates
 Specific sites for life activities such as nesting
Intraspecific competition is competition among members of the same species while
Interspecific competition is competition among members of different species (See Figure 16
below). Intraspecific competition can be especially intense because members of the same
species have the same space and nutritional requirements.
FIGURE 16 -Intraspecific competition between wolves and Interspecific competition between a giraffe and a
gazelle.
Plants have developed mechanisms to cope with intraspecific competition. Some plants will
shade the others out - seedlings may be unable to germinate in the shady conditions created by
competing plants. To counteract this, some plants have adaptations that help to disperse seeds
to other sites by water, air, or animals. Some plants use chemical warfare and may secrete
substances that inhibit the growth of seedlings near them.
Animals have developed mechanisms to cope with intraspecific competition as well such as
having varied life cycles (e.g. different habitats and feeding patterns in juvenile and adult
invertebrates). This prevents competition by ensuring they occupy different ecological niches.
Territoriality is an intense form of intraspecific competition in which organisms define an area
surrounding their home site or nesting site and defend it. However, most organisms only
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engage in physical fights as a last resort due the risk of injury. All of these adaptations
(structural, physiological or behavioural) that help an organism compete for resources are the
result of mutations that occur during DNA replication or gene shuffling during sexual
reproduction. An organism cannot choose to adapt; rather a mutation may prove to be more fit
for the particular environment and it will be selected for, leading to an increase in this
particular trait in the species’ population. Any trait that is beneficial for competitive survival will
be more likely to be passed on to offspring according to natural selection.
Energy flows from one organism to another in an ecosystem. Every organism interacts with its
ecosystem in two ways:
1. The organism obtains food energy from the ecosystem.
2. The organism contributes energy to the ecosystem. It could be an autotroph such as a
plant that makes food energy through photosynthesis or it could be an organism that
dies and its nutrients are recycled during decomposition for other organisms to make
use of.
We can visualize the energy flow in an ecosystem by thinking about a food web. A food web is a
simplified model of an ecosystem and shows that all organisms in a specific ecosystem are
interconnected. If any of the species in a food web are removed or decrease in population, it
will affect all other organisms in the food web. This change can be a selective pressure.
Recall the Law of Conservation of Mass from the Chemistry Unit – mass is neither created or
destroyed it just changes form. The same basic principle applies to energy as well. So chemical
energy (food) created by autotrophs does not disappear but changes form as a plant is eaten by
a herbivore and as a herbivore is eaten by a carnivore. The energy is transferred.
Organisms are divided into trophic levels that explain their role (niche) in an ecosystem.
Trophic level Type of Organism Energy Source Example
1st Primary producer Obtain energy from the Grass, algae,
Sun cyanobacteria
2nd Primary consumer Obtain energy from Grasshoppers, krill
primary producers (herbivores)
3rd Secondary consumer Obtain energy from Frogs, crabs (carnivores)
primary consumers
4th Tertiary consumer Obtain energy from Hawks, sea otters (top
secondary consumers carnivores)
One piece missing from this table are detrivores. These vital organisms, which include fungi,
bacteria and some worms help breakdown and recycle organic material such as leaf litter and
dead organisms. This releases energy (nutrients) that would otherwise be trapped or unusable.
Disease
Diseases can also be selective pressures. One well-known example is the sickle cell trait in
humans, caused by having one copy of the mutated hemoglobin allele that causes sickle cell
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anemia. People that have two copies of this mutated allele are likely to die of anemia at a
young age, so you'd think that the allele would be strongly selected against, right? However,
people with only one copy of the sickle cell allele have a survival advantage in malarial regions
because they are more resistant to malaria. Scientists don't yet know exactly why they are
more resistant, but in these regions, malaria is a selective pressure that keeps the sickle cell
allele circulating in the population.
Another example from closer to home - roughly 175 years ago, the population of Coast
Tsimshian First Nations groups declined by as much as 57 per cent. This coincided with
colonization and the spread of European diseases such as smallpox and tuberculosis, the
accounts of which have also been passed down in First Nations oral tradition. A recent study
that linked the genomes of 25 Indigenous people who lived 1,000 to 6,000 years ago (taken
from archaeological sites in Prince Rupert) with 25 descendants in the Lax Kw'alaams and
Metlakatla First Nation in British Columbia concluded that the genomes of the descendants
were altered as a result of European colonization, making them more resistant to European
viruses.
Now, let's put ourselves in the pathogens' shoes. For microbes such as the malaria parasite, as
well as many other bacteria, viruses, and fungi, animals' immune systems are a major selective
pressure. Pathogens that have phenotypes that increase their resistance to immune defenses
are likelier to replicate and go on to infect another host. This leads pathogens to evolve very
interesting abilities, such as disguising themselves from the immune system by changing their
outer coats, or even hijacking our immune cells to make them into comfortable places to live.
FIGURE 17 – The armoured mist frog, Litoria lorica, a critically endangered species. Image: Conrad Hoskin
An example helps to illustrate this. The armoured mist frog, pictured above in Figure 17, is a
species that was originally thought to live only in tropical rainforests in Queensland, Australia.
With the arrival of chytrid fungus (an introduced pathogen that has caused many different
species of frog populations to decrease), it was feared the armoured mist frog had gone extinct
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when all known populations disappeared. However, a new population of the frogs was later
discovered in open savanna (grassland) habitat. It has been proposed that this population of
frogs may have a mutation that makes them resistant to the chytrid fungus. In addition, this site
was hot and dry enough that it was poor habitat for the chytrid fungus, and so even though
chytrid is present, its impacts on the mist frogs are greatly reduced. Since the arrival of chytrid,
the selective pressure in this example, the armoured mist frog has been unable to survive in
rainforest, its pre-decline primary habitat, but it can persist in open savanna sites because they
are less suitable for chytrid.
Accumulation of Waste/Pollution
Pollution is the introduction of contaminants into the natural environment that cause adverse
change. It can take the form of chemical substances or energy, such as noise, heat or light.
Pollution may also act as a selective pressure which can affect an organism’s ability to survive in
a given environment. For example, as coastal areas of Florida are developed for human
activities, lighting infrastructure such as streetlamps, illuminated parking lots, and buildings can
be a killer for sea turtles. Instinct drives hatchlings from their nests on beaches toward the
brightest horizon, which would ideally be moonlight reflecting on the ocean's surface. Bright
artificial lights confuse the turtles’ internal navigation systems, causing them to head toward
the wrong light and become easy prey for sand crabs, sea birds, and traffic. In some coastal
areas, by-laws are now in place to regulate this “light pollution” that disorients the turtle
hatchlings, and sometimes the adults (See Figure 18 below).
FIGURE 18
If the pollution leads to the death of a large number of individuals in a population, the alleles of
those individuals who do survive will be the ones passed to offspring. Any time the allelic
frequency changes in a population, then evolution has occurred.
Historically, the development of new species (speciation) has often been triggered by some
type of geographical barrier (plate tectonics, mountain building, etc.) which can lead to
adaptive radiation (divergent evolution). This means that populations of the same species end
up in different environments, each with unique selective pressures. Due to these differing
selective pressures, different traits will be more fit in each environment and since the two
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groups cannot reproduce with each other due to some geographic barrier, the populations will
over time show great difference in frequencies for specific alleles, thus indicating that evolution
has occurred.
FIGURE 19 - Eventually, so many differences will exist in the gene pool that the populations can no longer
interbreed and become different species
Pollution can confine a certain population to a particular geographical area or make habitats
unsuitable for certain genotypes. Instead of being separated by a physical barrier, the members
of a population are separated by differences in the same environment. This can happen when
part of an environment has been polluted. A population of Buffalo grass or sweet vernal grass
(Anthoxanthum odoratum) developed tolerance to heavy metals and became divergent from
the adjacent population. A group of these plants grew near mines, and the mining activity led to
contamination of the soil with heavy metals, like zinc and lead. This contamination occurred in
the soil present within a specific distance from the mine and prevented most plants from
growing. The plants currently present within this distance have genotypes that provide
tolerance to these heavy metals, whereas the neighbouring plants that were not subjected to
such selection pressure remained intolerant. These two populations were continuous, and gene
flow was possible amongst them. However, in due course of time, the populations evolved
different flowering times, thus, limiting the gene flow and proceeding to speciation.
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FIGURE 20 – Polluted soil as a selection pressure leading to speciation in Buffalo grass
Phenomena – Natural Disasters and Ecological Succession

Natural disasters such as earthquakes, volcanoes, forest fires and hurricanes can also act as
selective pressures. If the natural disaster is something that happens cyclically, like forest fires
or hurricanes, strong selective pressure is put on organisms to adapt to being routinely
disturbed. The fact that some conifers only germinate after a fire is likely an evolved response
that started with some ancestral trees producing seeds that were a little more fire-resistant
than others. This is also the case with eucalyptus trees in Tasmania where large scale brush fires
are common events. The eucalypts hold their seeds inside small, hard capsules; a fire will
instantly trigger a massive drop of seeds to the newly fertilised ground. In fact, since fire is
required for the eucalypt life cycle, these plants have evolved a type of ‘fire-starter.’ The leaves
produce a volatile highly combustible oil, and the ground beneath the trees is covered with
large amounts of leaf litter covered by this oil, preventing its breakdown by fungi. This causes
wildfires to burn rapidly under them and through the tree crowns.
Less regular or unusually severe natural disasters such as volcanic eruptions or meteor impacts
influence natural selection by reducing gene pools – decreasing the amount and type of
genotypes in a population. These are random events, in which some genes (there is not any
distinction about which are more fit) are extinguished from the population. Depending on the
disaster, where it happens, and species population dynamics (such as birth rates), a drastic
reduction in population can result in a rapid shift in allele frequencies as the surviving
organisms take a dominant role in recovering the population.
If the disaster is big enough, it might be enough to cause a full scale extinction, which could
have a profound impact on the future evolution of the species that survive and have less
competition as they fill empty niches.
One of the world’s greatest disasters took place in August 27, 1883. A volcano on the island of
Krakatoa exploded. Much of the island was blown to bits. One part that had stood almost a
kilometer high was left covered by nearly 275 meters of water. The explosion caused a huge
tsunami. It swept over nearby islands. More than 36,000 people drowned. Volcanic dust soared
high into the atmosphere and much of the sun’s energy was blocked. Winds carried this dust
around the world for more than a year. Temperatures dropped. Crops did not grow well.
Animals were confused. They could not tell day from night.
Earth’s history is a history of change. Some changes, like the Krakatoa volcano, earthquakes,
lightning-caused fires, severe storms and floods cause dramatic environmental changes and the
destruction of some populations. As the environment changes, its populations are slowly
replaced by new populations. This process is called ecological succession.
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A change in one group of organisms causes a change in another group. Changes first occur in
plant populations. (Why? Because all energy in food webs begins from producers) Then,
different animals move in.
There are two main types of ecological succession:
1. Primary succession – this occurs in areas where no soil exists, such as following glaciation or a
lava flow. Wind and rain carry spores of lichen and mosses to these areas. Lichen secrete
chemicals that can break down rock and moss help to absorb and collect water. These
organisms, the first to survive and reproduce in a barren area, are called pioneer species. Over
time, due to the breaking down of rock and the decay of dead lichen and moss, soil is formed.
This allows other plants with seeds to germinate and grow in the area. The ecosystem
continues to change as new species of plants and animals colonize the area. Eventually, primary
succession leads to the development of a mature climax community such as a boreal forest or
grassland.
FIGURE 21 – Primary Succession

2. Secondary Succession – this occurs when small disturbances, such as fire, tree harvesting or
hurricanes affect an area that already had soil and was once the home of living organisms. It
proceeds much more quickly than primary succession since micro-organisms, insects, seeds and
nutrients still exist in the soil. Here is a typical example of destruction and rebirth that follows a
forest fire:
1. First, grasses and weeds grow. They grow they grow from roots and seeds left in the
soil. They grow well. There are no trees to block the sunlight.
2. These plants mature and form seeds. The winds spreads the seeds. Soon, a meadow
forms. Small animals, like insects and birds, return to the area.
3. Many growing seasons pass. The weeds, grasses, and insects add minerals to the soil.
The soil becomes richer.
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4. The soil can support shrubs and small, fast-growing woody trees. These plants block the
sun from the grasses and weeds. Other plants, like ferns, do not need full sunlight. They
grow where the grasses and weeds once were. Different kinds of animals move in.
5. The soil becomes richer. Taller, slower-growing hardwood trees grow. Other animals
move in, such as rabbits, chipmunks, squirrels, and deer.
Quick Check
The steps below describe the destruction and rebuilding of a forest ecosystem. Place them in
the proper order.
- shrubs and fast-growing short trees - small birds and insects

- chipmunks and rabbits - forest
- meadow - fire
- dead forest - slow growing, tall hardwood trees
- grasses and weeds
1. ________________________________________________________________
2. ________________________________________________________________
3. ________________________________________________________________
4. ________________________________________________________________
5. ________________________________________________________________
6. ________________________________________________________________
7. ________________________________________________________________
8. ________________________________________________________________
9. ________________________________________________________________
Abiotic Factors
There are two types of environmental factors in an ecosystem, the living organisms and the
physical components of the environment. The living components of the ecosystem are called
biotic factors. For example, in the kelp forests off the coast of B.C. the biotic factors include the
plants, fish, and invertebrates, as well as the complex interactions occurring between them. The
non-living components, or abiotic factors, include the physical and chemical components in the
environment such as temperature, wind, water, sunlight and oxygen. In the kelp forests, abiotic
factors would include the water temperature, acidity of the water, the water currents and
factors such as oil spills.
We’ve already discussed how biotic interactions such as competition, invasive species and
diseases can act as selective pressures. Further we have learned about how abiotic factors such
as natural disasters and pollution are also types of selective pressures. As we saw with the
Buffalo grass growing in areas polluted by mining waste, abiotic factors may affect the same
species group in different ways and, over time, can lead to speciation as different genotypes are
selected for in the polluted or non-polluted habitats.
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Weather and Climate

Climate is the general pattern (average) of temperature and precipitation (e.g. rain/snow) in an
area over 30 years or more, while weather is daily variation of temperature and precipitation.
Both climate and weather patterns can serve as selective pressures.
Let's take climate as an example. Climate-driven natural selection has been exhibited across a
wide variety of species. In a cold climate, animals need certain characteristics to survive, like a
warm furry coat, the ability to make burrows to live in and the ability to collect and store food
for the winter. The selective pressure of a cold climate means that animals that don't have
these characteristics are less likely to survive and reproduce. In polar bears, several adaptations
are a result of a cold climate as a selective pressure. They have dense fur and a thick fat layer
(physical adaptations) and hunt and feed more in the winter to build up reserves that sustain
them during summer months when their food sources are scarce (behavioural adaptations). See
Figure 22 below for more polar bear adaptations. In a hot, dry climate, plants will have an
advantage if they have phenotypes such as the ability to store water, large root systems to
absorb what little water is in the soil and, perhaps, ways to prevent water loss even at high
temperatures.
FIGURE 22 – Polar Bear adaptations that help them survive and reproduce in cold climates.
As you may be aware, climatic conditions on Earth are currently experiencing rapid changes
(IPCC, 2007), mostly as a result of human actions such as burning fossil fuels. This means that
selective pressures exerted by factors such as climate and weather are also changing. While
historical climatic changes facilitated adaptation in conjunction with migration (moving to new
areas) over a fairly long time scale that eventually lead to speciation, current climate change
may be too rapid for this to occur. First off, the option for species to migrate to a similar climate
zone is less available today than before, because there is such a heavy human footprint on the
landscape. Cities, highways, dams, farms, ranches—all of these and more are barriers to the
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natural movements of wild species (FAUNMAP Working Group 1996, Carrasco et al. 2005).
Secondly, under current climate change conditions, extreme weather events and interannual
climate variation are increasing; thus, the selective pressure exerted is inconsistent. As we
learned earlier, selective pressure must occur before reproduction in order to have any effect
on the population. If the selective pressure is inconsistent, which traits nature selects for and
therefore which traits will be passed to offspring will also be inconsistent. It seems likely that
we will see changes in genotypes and phenotypes at the population level in response to climatic
change over the next hundred years, but climate-induced speciation, if it is possible, appears to
require climatic events that operate on a much longer and consistent timescale So we would
not expect speciation to regenerate any biodiversity lost in response to human-induced global
warming—especially keeping in mind that the rate of climatic change over the next century is
likely to be faster than the rates experienced by living things through much (if not all) of their
evolutionary history. The fate for populations that experience such an effect is extinction; when
too many populations decline in size and number, extinction follows for the entire species.
Carrasco MA Kraatz BP Davis EB Barnosky AD . 2005. Miocene Mammal Mapping Project (MioMap). University of
California Museum of Paleontology. (18 April 2007; www.ucmp.berkeley.edu/miomap ).
FAUNMAP Working Group 1996. Spatial response of mammals to the late Quaternary environmental fluctuations.
Science . 272: 1601-1606.
IPCC (Intergovernmental Panel on Climate Change). Climate Change 2007: The Physical Science Basis. Cambridge,
U.K.: Cambridge University Press, 2007.
Artificial Selection and Genetic Engineering

All of the selection pressures we have discussed so far have been a result of events that occur in
nature and those genotypes and phenotypes that were most fit for their specific environment
were determined by natural selection. However, people have been artificially selecting
domesticated plants and animals for thousands of years. These activities have amounted to
large, long-term, practical experiments that clearly demonstrate that species can change
dramatically through selective breeding. Even Gregor Mendel’s original experiments with peas
were artificial selection. Artificial selection is perhaps best understood as a contrast to natural
selection, where the random forces of nature determine which individuals survive and
reproduce. In both cases, the outcome is the same: a population changes over time, so that
certain traits become more common.
Some consider domesticated animals to be the ultimate products of artificial selection.
Thoroughbred racehorses are one example of artificial selection of animals. The meats we eat
are the result of the careful selective breeding of cows, pigs, sheep, and chickens. Our pets are
a far cry from their “wild” ancestors. Cats and dogs, which were originally domesticated for pest
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control, hunting, or shepherding, eventually were bred to become companion animals. A glance
at a group of dogs — all of the species Canis familiaris — reveals an astounding diversity of
body type, size, and coloration (See Figure 23 below).
FIGURE 23 - Most, if not all, breeds of household dogs that exist today are due to artificial/selective breeding. The
original bloodline is from wolf-like animals that were domesticated and bred for more docile traits.
There can be a down side to artificial selection. Since this process essentially removes variation
(possible genotypes) in a population, selectively bred organisms can be especially susceptible to
diseases or changes in the environment that would not be a problem for a natural population.
Attempts by humans to control undesirable organisms can sometimes result in a selection
pressure that leads to new forms that are resistant to the methods used. For example, insect
pests such as mosquitoes that are resistant to insecticides, and weeds that are unaffected by
herbicides have been seen to emerge. Some other examples of human’s influence are more
worrying. The widespread use of antibiotics has resulted in some disease-causing bacteria to
evolve into strains called ‘superbugs’ that are resistant to many of these compounds.
Another way that humans have has influence over the survival of living things is through
biomedical technologies, several of which have revolutionized modern medicine. Some
examples of these include;
1. Genetic Testing – this involves the analysis of a person’s DNA to be able to diagnose genetic
disorders in particular if a particular genetic disorder runs in a family. Amniocentesis is a
medical procedure used to obtain a small sample of a fetus’ DNA by withdrawing a small
amount of the amniotic fluid surrounding it in the womb. Pregnant women over the age of 40
routinely have amniocentesis in order to test for the genetic condition known as Down
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Syndrome (also called Trisomy 21). The syndrome is more likely to affect babies born to women
over 40. In Down syndrome, an individual has an extra chromosome 21, giving them 47
chromosomes in all (See Figure 24 below). About one person in 1000 has the condition, which
can involve delayed physical and mental development, heart impairment and altered physical
features. Despite the possible disabilities associated with the condition, many people with
Down syndrome lead rich and fulfilling lives.
FIGURE 24 – Trisomy 21 Diagram

Carriers – for some diseases, individuals can be tested to determine if they are carriers in which
case they would have no symptoms but could pass on the disease to the next generation
because they carry one recessive allele for the disease. We discussed this process when we
learned about sex linkage near the beginning of this unit. Using the patterns of inheritance, a
genetic counselor or a physician may be able to predict the probability of whether these
individuals will pass on disease such as muscular dystrophy or cystic fibrosis to their children.
Genetic Markers – sometimes tests are available for genetic disorders for which there is not yet
any treatment. For example, Alzheimer’s disease is a brain-wasting disease that causes severe
memory loss and, ultimately, death. About 5% of Alzheimer’s sufferers carry a genetic marker
for the disease. A test can be performed to determine if this marker is present in an individual
and, if so, the person will develop the disease. At present, there is no way of adequately
treating Alzheimer’s or halting its progress. If you could know when you were young that you
were certain to get a disease in your fifties, would you want to know? Would it affect whether
you wanted to have children?
2. Gene Therapy – in this process, genetic engineering is used to correct a genetic disorder.
Gene therapy is most useful in cases where one faulty gene is responsible for the disease. While
it is not yet medically possible to correct a faulty gene, progress is being made in refining the
techniques used to insert a properly functioning gene somewhere into the DNA of the person
with the disorder.
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FIGURE 25
But the reality is more complicated, because you need something to integrate the gene into the
patient’s DNA and persuade the cells to read it. In other words, you need a vector.
Viruses are the obvious choice as they survive and spread by doing just that - inserting their
genes into a host cell’s genome. Specifically, retroviruses work like this, so were the first choice
for the initial gene therapy trials. The problem is that they insert genes at random locations in
the genome, as well as inserting regulatory sequences that can sometimes activate nearby
genes and trigger cancer. To overcome this, researchers have turned to lentiviruses. These still
insert genes randomly, but can be modified to disable some regulatory sequences. Many gene
therapy trials using lentiviruses are ongoing, including a few looking to treat degenerative
diseases such as and blood-cell disorders that could cause an early death without treatment.
As with most biomedical technologies, gene therapy poses ethical questions. For example,
should a modified gene be inserted into reproductive cells? If so, the positive and negative
effects of this gene would be passed on to a person’s children, grandchildren, and succeeding
generations.
3. Pharmaceuticals – in 95% of cases, people infected with hepatitis B recover completely.
However, about 5% harbor the disease for many years. Over time, this can result in serious liver
damage, as well as liver cancer. The good news is that since 1992, children in Grade 6 in B.C.
have received a vaccination for hepatitis B. The mass production of the vaccine was made
possible by genetically engineering yeast using recombinant DNA. The recombinant vaccine was
developed by inserting the HBV gene that codes for the surface protein into the yeast. This
allows the yeast to produce only the non-infectious surface protein, without any danger of
introducing actual viral DNA into the final product. The modified yeast is grown in large vats
and when fully developed, the viral protein is extracted and made into a vaccine. Long-term
studies show that in B.C. hepatitis B has been eliminated among those who were vaccinated in
Grade 6.
4. Forensics – David Milgaard, Guy Paul Morin and Thomas Sophonow are all Canadians who
have been convicted of murder and served long prison sentences. They also have something
else in common: they are all innocent. Forensic evidence obtained from the bodies of the
murder victims and subjected to DNA analysis showed that in each case these men were not
the murderers. One by one, their murderer convictions were overturned and they were
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exonerated. DNA profiling, which is sometimes called DNA ‘fingerprinting,’ is the biotechnology
used to prove their innocence. This technology, however, was not available at the time of their
convictions. These are fairly isolated cases, but they do occur. For example, between 1989 and
2014, a total of 353 convictions in the United States were overturned as a result of DNA
analysis. Twenty of these overturned convictions were for people awaiting execution
(www.innocenceproject.org).
Review Questions
1 a) What is amniocentesis? 2. In gene therapy, a properly functioning
gene is inserted into some of the cells of a
person who is missing the correct gene.
b) Give an example of its use in genetic Explain how it is possible to insert such a
testing. gene.
And now, Cheat Sheet Time!!
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Notes Genetics and Selective Pressures 2017 Teacher

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Smedley – Science 10 - Biology NAME____________________

Genetics follows a set of rules that govern inheritance.

FIGURE 1 – DNA makes up chromosomes found in the nucleus

FIGURE 2 – The structure of a DNA molecule

The Birth of Genetics

FIGURE 3 – Hand clasping options.

Mendel’s Experiments with Peas

FIGURE 4 – Mendel studied several “either/or” characteristics in pea plants.

Monohybrid = refers to a crossbreeding experiment that follows the inheritance of a single

Monohybrid Cross Experiment

Mendelian Patterns of Inheritance a.k.a Complete Dominance

Mendel’s Gene Hypothesis

Most Traits Are Independently Sorted

Develop Your Skills

1. Complete the Punnett square for the P generation (TT x tt).

3. What percentage of the F2 generation is tall and what percentage is short?

Phenotype and Genotype

Develop Your Skills

4. Assume 40 pea plants were produced.

5. Assume that 60 pea plants were produced.

d) What percentage of hamster offspring are likely to be white?

b) Complete a Punnett square for this cross.

c) What percentage of the offspring do you predict to be

Other Patterns of Inheritance

Develop Your Skills

XR = red eye (dominant) Xr = white eye (recessive)

2. What percentage of the offspring will have:

Mutations affect living things in a variety of ways.

FIGURE 12 – Types of mutagens.

Natural Selection and Selective Pressures

 Structural adaptations: physical parts, colouration or features of an organism that enable it

Cave Arctic Ocean High School

What is Selective Pressure?

Selective Pressure Leads to Evolution

Examples of Selective Pressure

Predation, Invasive and Keystone Species

FIGURE 14 – If the keystone is removed, the arch will collapse.

FIGURE 15 – Scotch Broom, one of B.C.’s most invasive species.

Availability of Resources, Nutrient Supply and Energy Flow

FIGURE 20 – Polluted soil as a selection pressure leading to speciation in Buffalo grass

Phenomena – Natural Disasters and Ecological Succession

FIGURE 21 – Primary Succession

- shrubs and fast-growing short trees - small birds and insects

Weather and Climate

Artificial Selection and Genetic Engineering

FIGURE 24 – Trisomy 21 Diagram

And now, Cheat Sheet Time!!

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