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What is variation?
Any difference between cells, individual organisms, or
groups of organisms of any species caused either by genetic
differences (genotypic variation) or by the effect of
environmental factors on the expression of the genetic
potentials (phenotypic variation).

Genetic variation also occurs as a result of changes in the

DNA in a cell (mutation).
Why Sexually Produced
Organisms Vary In Characteristics?

• Meiosis causes variation through independent

assortment ( formation of random combinations of
chromosomes in meiosis and genes on different pairs of
homologous chromosomes) and crossing over.

• Random fertilization introduces variation between

What Are Mutations?

• Changes in the nucleotide sequence of

• May occur in somatic cells (aren’t
passed to offspring)
• May occur in gametes (eggs & sperm)
and be passed to offspring
Are Mutations Helpful or Harmful?

• Mutations happen regularly

• Almost all mutations are neutral
• Chemicals & UV radiation cause
• Many mutations are repaired by
Are Mutations Helpful or Harmful?

• Some type of skin cancers and

leukemia result from somatic
• Some mutations may improve an
organism’s survival (beneficial)
Types of Mutations
Chromosome Mutations

• May Involve:
• Change in the number of
• Change in the structure
of a chromosome
Chromosome Mutation

• Likely to occur in meiosis I- when the pair of

chromosomes line up at the equator at metaphase and
are pulled apart in anaphase.

• Errors can result in the chromosomes not being shared

equally between the daughter cells.
Chromosome Mutations
(base on changes in the structure of the

• Five types exist:

• Deletion
• Inversion
• Translocation
• Nondisjunction
• Duplication

• Due to breakage
• A piece of a
chromosome is lost

• Chromosome segment breaks off

• Segment flips around backwards
• Segment reattaches

• Occurs when a gene sequence is repeated


• Involves two chromosomes that aren’t

• Part of one chromosome is transferred to
another chromosomes

• Failure of chromosomes to separate

during meiosis (ex. Klinefleter's
• Causes gamete to have too many or too
few chromosomes
Chromosome Mutations
(base on changes in the number of the
Trisomy 13 Syndrome Karyotype
Trisomy 18 Karyotype
Karyotype of person with Down’s
Turner Syndrome

• This occurs when a faulty oocyte, with no X chromosomes

is fertilized by a sperm carrying an X chromosome.

• This resulting zygote has the genotype XO. It has 45

chromosomes instead of 46.
Karyotype of a person with Klinefleter's
Chromosome Mutation

• Variations of chromosomal number

involving a set of chromosomes (polyploidy)
or an individual chromosome (aneuploidy)
can occur.
• Aneuploidy results in syndromes with
distinct characteristics.
• Klinefleter's and Turner’s syndrome involve
the sex chromosomes.
Gene Mutations

• Change in the nucleotide sequence of a

• May only involve a single nucleotide
• May be due to copying errors, chemicals,
viruses, etc.
Types of Gene Mutations

• Include:
• Point Mutations
• Substitutions
• Insertions
• Deletions
• Frameshift
Point Mutation

• Change of a single nucleotide

• Includes the deletion, insertion, or

substitution of ONE nucleotide in a gene
Point Mutation

• Sickle Cell disease

is caused by a single
substitution in the
gene that codes for
one of the
polypeptide chains
in haemoglobin.
Sickle cell anaemia

• Haemoglobin is the red pigment,

found inside the RBC’s, that
transports oxygen around the body.

• It is a globular protein made up of

polypeptide chains.
Sickle cell anaemia

• Two are alpha chains and two are beta


• A mutation in the gene coding for the B

chains causes sickle cell anaemia.

• Sickle cell anaemia is caused by a single

code letter change in the DNA.
Sickle cell anaemia

• This in turn alters one of the amino acids in the

haemoglobin protein, resulting in valine siting in position
where glutamic acid should be.

• The valine makes the haemoglobin molecule stick

together, forming long fibres that distort the shape of the
red blood cells, and this brings on an attack.
Sickle cell anaemia
Frameshift Mutation

• Inserting or deleting one or more

• Changes the “reading frame” like
changing a sentence
• Proteins built incorrectly
Frameshift Mutation

• Original:
• The fat cat ate the wee rat.
• Frame Shift (“a” added):
• The fat caa tet hew eer at.
Amino Acid Sequence
Class Activity

Instruction: Answer the following questions.

1. a. i. Distinguish between a gene mutation and a chromosome
mutation. [2mrks]
ii. Briefly explain how gene mutation and chromosome
mutation arise. [4mrks]
iii. A gene mutation which involves the deletion of a base may
have a greater effect on the polypeptide than substitution of one
base for another. Discuss this statement. [4mrks]
b. Sickle cell anaemia is an example of a disease caused by a
gene mutation. Discuss the effect of this mutation on the structure
and function of haemoglobin. [5mrks]
Total = 15 marks
Discontinuous and Continuous Variation

• Variation-differences in characteristics within a species.

• Types:
1. Discontinuous
2. Continuous
Natural Selection
Natural Selection

 Natural selection is the process by which

favorable heritable traits become more
common in successive generations of a
population of reproducing organisms, and
unfavorable heritable traits become less
Natural selection acts on the phenotype, or
the observable characteristics of an
organism, such that individuals with
favorable phenotypes are more likely to
survive and reproduce than those with less
favorable phenotypes.
Charles Darwin
Father of Evolution
Proposed a mechanism for
evolution, natural selection
Darwin went on a 5-year trip
around the world on the
ship, the HMS Beagle
As the ship’s naturalist, he
made observations of
organisms in South America
and the Galapagos Islands
•Wrote a book, “Origin of the Species”
Darwin’s Finches
Darwin’s Voyage
• Galapagos Animals
• The Galapagos animals, while similar,
were also different from island to island
as well as to the mainland
• Most obvious difference were the sizes
and shapes of the finches’ (small birds)
• Sizes and shapes of the beaks were
adapted to what the birds ate
Galápagos Finches

 Beak
Berry on diet
Seed Cactus
Insect eaters eaters
Darwin’s Finches

• The beaks of these finches show

adaptation to different foods and food
gathering methods, as shown in the
pervious slide.
Charles Darwin

• Darwin found other species of animals and plants found

nowhere else.
• The giant tortoise is perhaps the best known.
• A species that is only found on an island and nowhere else
is known as an island endemic.
Natural Selection
Natural Selection: Organisms
that are best adapted to an
environment survive and
reproduce more than others
Darwin’s Theory of Natural
Selection occurs in four
1. Overproduction
Each species produces
more offspring that can
2. Variation
Each individual has
a unique
combination of
inherited traits.
Adaptation: an
inherited trait that
increases an
organism’s chances of
What adaptations do
you see?
What adaptations do
you see?
Why is Variation Important?
Because the environment changes.
The more variation within a species, the
more likely it will survive
EX: If everyone is the same, they are all
vulnerable to the same environmental changes
or diseases
The more variation of types of species in
an habitat, the more likely at least some
will survive
EX: Dinosaurs replaced by mammals
3. Competition
Individuals COMPETE for limited
Food, water, space, mates
Natural selection occurs through
“Survival of the fittest”
Fitness: the ability to survive and reproduce
Not all individuals survive to adulthood
4. Selection
The individuals with the best traits /
adaptations will survive and have
the opportunity to pass on it’s
traits to offspring.
Natural selection acts on the phenotype
(physical appearance), not the genotype
(genetic makeup)
Ex: When a predator finds its prey, it is
due to the prey’s physical
characteristics, like color or slow speed,
not the alleles (BB, Bb)
Individuals with traits that are not well
suited to their environment either die
or leave few offspring.
Evolution occurs when good traits
build up in a population over many
generations and bad traits are
eliminated by the death of the
Natural selection increases the
frequency of certain characteristics
within a population, at the expense of
Peppered Moth

Which moth will the

bird catch?

How Environmental Factors Act As Forces Of
Natural Selection?

• Environmental factors act as forces of natural selection base on the

adaptation of organisms to the conditions of an environment.
• This was evident with the melanic peppered moth (Biston betularia) in
industrialised areas of UK during the 18th century.
• The speckled moths were easily spotted by birds and eaten while the
melanic survived and reproduced.
Industrial Melanism
• Industrial Melanism is a term used to describe
the adaptation of a population in response to

• One example of rapid industrial melanism occurred

in populations of peppered moths in the area of
Manchester, England from 1845 to 1890. The
peppered moth is fairly common in England. It can
be found in two forms – the dark form and the light
Industrial Melanism
• Before the industrial revolution, the trunks of the
trees in the forest around Manchester were light
grayish-green due to the presence of lichens. Most of
the peppered moths in the area were light colored
with dark spots. Prior to 1850, insect collectors had
never collected a dark form of this moth.

• As the industrial revolution progressed, the

tree trunks became covered with soot and
turned dark. In 1850, a dark form was collected
near the factory city of Manchester. Over a period of
45 years, the dark variety of the peppered moth
became more common.
Industrial Melanism
• In fact, near many industrial cities in England the dark form accounted for
about 95 percent of the peppered moth population. Away from industrial
centers the moth was usually found in the light form. In non-industrial
areas, tree trunks were usually found in their lighter, natural color.

• Both forms of the moth are preyed upon by birds when the
moths rest on the trunks of trees. Among the peppered moth
population, the genes for both the light form and the dark form have long
existed. However, before 1850, the dark form appeared only rarely. The
increased number of dark moths is a matter of natural selection.

 Air pollution from industry has decreased, hence the pale moth are more
common today. Very few melanic B. betularia exist in the U.K today.
Industrial Melanism – Peppered Moths
Industrial Melanism
Natural Selection
Evidence of Natural Selection

 Many examples exist in nature

1. Evolution of high resistance to insecticides by insects,
especially flies and mosquitoes
2. Industrial Melanism in peppered moths of England.
3. High resistance of bacteria to Antibiotics.
Selection Pressure

• Selection pressure increases the chances of some

genetic variations being passed on to the next
generation and decrease the chances of others.

• The effect of this is natural selection.

What acts as a selection pressure on a

• Competition for food

• Competition for a mate
• Changes in the environment
• Predators
• Parasites
Natural Selection

Natural selection occurs in different patterns

depending on species and selection pressures
• Directional selection
• Stabilizing selection
• Disruptive selection
Directional Selection

 Directional selection
• Mode of natural selection in which phenotypes at one end of a range
of variation are favored
• Allele frequencies shift in a consistent direction in response to
selection pressure
For: one extreme trait.
Against: the other extreme trait.
(N.B. Graph shifts to the right)
 Examples: peppered moths, rock pocket mice, antibiotic-resistant
Directional Selection
Directional Selection
in Peppered Moths

 Predation pressure favors moths that are best camouflaged when

the environment changes
Fig. 12-4a, p. 219
Fig. 12-4b, p. 219
Fig. 12-4c, p. 219
Fig. 12-4d, p. 219
Directional Selection
in Rock Pocket Mice

 Mice with coat colors that do not match their surroundings are
more easily seen by predators
Stabilizing Selection

 Stabilizing selection
• Mode of natural selection in which intermediate phenotypes are
favored and extreme forms are eliminated
For: the intermediate trait
Against: both extreme forms

 Example: sociable weavers

Stabilizing Selection
Stabilizing Selection
in Sociable Weavers

 Body weight in sociable weavers is a trade off between starvation

and predation
Disruptive Selection

 Disruptive selection
• Mode of natural selection that favors extreme phenotypes in a range
of variation
• Intermediate forms are selected against
For: both extreme traits
Against: intermediate trait
(N.B. Graph splits in two)
 Example: African seed crackers
Disruptive Selection
Disruptive Selection
in African Seedcrackers

 African seedcrackers tend to have either a large bill or a small one

– but no sizes between
Natural Selection

• Natural selection is one of the basic mechanisms of evolution.

• Evolution refers to the directional change in the characteristics
of a population over time.
Practice Questions

1. State four observations and three deductions that

formed the basis of Darwin’s theory of natural selection.
2. Why is heritable variation important in selection?
3. Biological evolution can be defined as gradual changes
in the genetic composition of a population with the
passage of each generation. Discuss how natural
selection acts as the mechanism of evolution. [7marks]
[Total = 15 marks]