What causes populations to deviate from the Hardy-

Weinberg equilibrium?

Assumption: The population size is infinite.

Clearly, population size cannot be infinite. Therefore

every generation results in sampling from a finite
group of individuals.

H-W equilibrium assumes that different genotypes

arise exactly corresponding to the frequencies
of each allele. But with smaller than infinite populations
this may not be true due to chance.
For example, if two alleles (A and G) are present in equal
frequencies, A= p = 0.5 and G = q = 0.5, then the predicted
genotype frequencies for a population in H-W equilibrium are:

AA

AG

GG

But what if a population is small, then by chance different

proportions of each genotype can occur.
 Frequency of A allele Two simulations: in each case
p = q at the first generation and
there is no selection.

a) Population size = 10 (10 A: 10 G)

# of generations
b) Population size = 500 (500A: 500 G)

GENETIC DRIFT:

FIXATION:
Examples of situations that can lead to genetic drift:

FOUNDER EFFECT:

POPULATION BOTTLENECK:
 Genetic drift - an effect of small population size

founder effect
a a A a a a a
p = 0.42 a a A a a
A A a a a
a
A
a A
a
a
p = 0.25 A a a a
q = 0.58 A A A a A a a A
a a a A a A
a a a a a
a A a a a a a a
A a A A a A A a a
a A aa a a
A a a a a a a a A
A a a a a
a a A a A a
A a A a a A
A A a a A A

Genetic drift tends to remove polymorphism

No selection - either of 2 alleles may be fixed.
 Genetic bottlenecks
population size
Heterozygosity lost, even
# generations if population size rises
again

Harmful recessives
accumulate
- inbreeding depression

Often a problem for endangered species with small or isolated populations

On solution is to outcross if possible to restore diversity

 Florida panther
Puma concolor coryi

Population reduced by hunting,

habitat loss - limited to Everglades

Protected since 1960s

20-30 individuals in 1995.

Due to inbreeding in the small

population, many had kinked tails,
heart defects, sperm defects;
low rate of breeding success

Normal &.........abnormal sperm

To increase genetic diversity, 8
adult females from Texas were
introduced to Florida in 1995,
allowed to breed, and then
removed in 2003.
13/113 FL purebred kittens
survived
20/54 FL/TX hybrid kittens
survived

As of 2015, the population was

between 100-180 panthers.

Hybrid cats survived better and

exhibited more assertive behaviors.
http://news.nationalgeographic.com/news/2010/09/100924-
science-florida-panthers-texas-hybrids-endangered-animals/
Outbred Florida panthers continued to reproduce after the
Texas panthers were removed.

Tx+
Tx-
Another example: Hatchery raised salmon
Years of inbreeding in hatcheries have reduced the fertility
and viability of salmon. To combat this, female salmon that come home to spawn
are now captured, a piece of the fin is sent to a scientist who genotypes the fish
and then tells the people at the hatcheries which males have sperm that are the
most genetically different to use for mating.

See recent NY Times article on BIO320 Web Links site.

Salmon eggs

White milt
containing
sperm
Allele frequencies can also change by the creation of new mutant
alleles due to MUTATION.

However mutation rates are generally very low so mutations

accumulate slowly in genomes. Also since new mutations are rare,
they are very unlikely to be homozygous and therefore mutation
increases the amount of polymorphisms in a population.

MIGRATION: influx of new organisms to a population can change

allele frequencies

Another important determinant of allele frequencies is

SELECTION.

FITNESS:

NATURAL SELECTION:
Example of natural selection: Peppered vs. black moths in England

In pre-industrial England, the peppered moth predominated,

because its coloring was good camouflage on lichen colored tree
trunks. An increase the numbers of black moths correlated with
the advent of coal burning factories which coated the tree with
black soot. The peppered moths were then easy for birds to see
and eat. Currently peppered moths have made a comeback as
air pollution has been reduced.
 Selection - drives adaptive evolution
In genetic terms, selection =
unequal probabilities of different genotypes contributing to gene pool

Genotypes may differ in..

- survival (through a a AA A a aa Aa
reproductive years) AA A a
aa Aa
Aa Aa
- reproductive ability AA aa A a
(mating success, fertility)

Frequency of A before selection: A A aA

a A
a
A a
Frequency of A after selection: A a A A
A A
A A a A a

Note that a alleles are not eliminated because some remain in

heterozygotes
 Selection over many generations
Selection imposed
starting here # of generations
1
p
Here, p = q = 0.5
before selection
q

0
- tends to eliminate genetic variation from a
population
when p > 1, q > 0: a eliminated, A is fixed.
- BUT as q > 0, q2 becomes very small...
- very few aa homozygotes in population
- most a alleles are in heterozygotes and not selected
against, so even recessive lethals can persist at low
frequencies.
Balancing selection: heterozygote advantage
- can maintain recessive disease alleles in a population.
Selection against both homozygotes relative to heterozygotes

Example: sickle cell anemia

Caused by a mutation in a gene that encodes for one of the subunits

for hemoglobin, which carries oxygen from the lungs to other parts
of the body. In people homozygous for HbS the red blood cells may
collapse. BUT...
the parasite that causes malaria does not grow well in cells with the
HbS gene and therefore there is selection for heterozygotes.
HbA/HbA HbA/HbS HbS/HbS
Red blood cells OK mostly OK sickling
malaria susceptible resistant resistant

Balancing selection results in fewer homozygotes for both allelles

than predicted by the Hardy-Weinberg equilibrium.