Lecture 12

genetic drift
gayle ferguson

ferguson
gayle

the H-W principle

allele frequencies and therefore

genotype frequencies in a population
remain constant
proportions are p2, 2pq, q2 and this
equals the H-W distribution of
genotype frequencies
principle holds whatever the initial
genotype frequencies are: after one
generation of random mating the
genotype frequencies will be p2 : 2pq : q2

If youre s+ll struggling with HWE, take a look at this tutorial

H-W genotype frequencies as a function

of allele frequency
Locus with
two alleles

i.e. when alleles

have equal
frequencies!

why do we care?
when a population is not in H-W
equilibrium something interesting is
happening!
mating is non-random (e.g. in-breeding)

(recombination)

population size is small (genetic drift is happening)

immigration of new genes (gene flow/migration)
new mutations arising
natural selection is happening

change in allele frequencies over time by

drift vs selection

genetic drift:

RANDOM,
UNPREDICTABLE,
NON-ADAPTIVE
process

natural selection:
NON-RANDOM,
DETERMINISTIC,
ADAPTIVE
process

survival of the luckiest - differential

reproductive success that just happens

survival of the fittest - differential reproductive

success that happens for a reason

change in allele frequencies over time by

drift vs selection

All genes are subject

to genetic drift
;
not all are subject to
selection
(#yesallgenes)

(#notallgenes)

Genetic drift accounts

survival of the luckiest - differential

reproductive success that just happens

for much of the

difference in sequence
variation we see
between organisms
survival of the fittest - differential reproductive
success that happens for a reason

genetic drift occurs due to

sampling error

because normal populations are finite, unlike ideal

populations at H-W equilibrium.

due to random sampling of alleles during mating and

random sampling of alleles by death.

the effects of genetic drift can be dramatic

the random walk

Figure 10.2, p. 259
Futuyma, Evolution, 2e

Analogy: the smaller the population, the narrower the platform

populus simulations
MONTE CARLO METHOD
The use of randomly generated or sampled data and
computer simulations to obtain approximate solutions to
complex mathematical and statistical problems.

The Monte Carlo model simulates genetic drift using

a random number generator to sample genes from a
small parental population and passes them on to
offspring. Population size is assumed to be constant
from generation to generation and gene frequency
changes the result of the random sampling process.

2 alleles at
each locus
time to fixation:
30 simulations
N = 20
52 28 generations

time to fixation:
90 simulations
N = 100
256 159
generations

every population follows a unique evolutionary path

different alleles are fixed by chance in different populations
the expected mean number of generations until either loss or fixation
of an allele is 4N, 4x the population size.

Summary - the key

consequences of genetic drift

due to genetic drift every population follows a unique

evolutionary path

drift has a more rapid effect on allele frequencies in

small populations than in large populations

given sufficient time, genetic drift can produce

substantial changes in allele frequencies - even in

larger populations

as allele frequencies in a finite population drift toward

fixation or loss, the frequency of heterozygotes - and

hence the genetic variation - in the population declines

more rapid effect on allele frequencies in

small populations than in large populations
N = 100

N = 10

more rapid effect on allele frequencies in

small populations than in large populations

In larger populations, fluctuations in allele frequencies at each

generation due to random sampling are of smaller magnitude and
more easily corrected in the following generation because in a
larger population the sample of the gene pool propagated at
each generation more closely approximates reality. In a
small population the sample is less likely to be a true reflection of
the population as a whole and the allele frequencies at the next
generation can change dramatically because of this.

what are the chances of

an allele being fixed?

the probability that an allele will be fixed in

the future is equal to the frequency of the
allele at that moment in time

if a new allele arises by mutation in a diploid

population of N individuals, its probability of
fixation is 1/(2N)

(and the mean number of generations til either loss or fixation

will be 4N)

what are the chances of an

allele being fixed?
A1A1
A1A1
A1A1

A1A1
A1A2

A1A1
A1A1

A1A1

A1A1

A1A1
probability of fixation
of A2 is 1/(2N)
N = 10

the probability that an allele will be fixed in the

future is equal to the frequency of the allele at
that moment in time
table 4: two loci, population size 100,
initial frequency 0.9 (locus 1) and 0.1 (locus 2)

from Populus
simulations

locus 1 !
!
mean generations
until loss or fixation"

locus 1!
!
% fixed"
% lost"

locus 2!
!
mean generations
until loss or fixation"

locus 2!
!
% fixed"
% lost"

70 iterations"

70 iterations

70 iterations"

70 iterations"

154 100!

7% fixed (F)!
93% lost (E)!

87% fixed (F)!

191 107! 13% lost (E)!

coalescence
Figure 10.1, p. 258
Futuyma, Evolution, 2e
Reading p. 257-9

a history of
descent of gene
copies showing
coalescence

mitochondrial eve

Mitochondrial Eve is the name given by

researchers to the woman who is defined
as the matrilineal most recent common
ancestor (MRCA) for all currently living
humans. All mtDNA in every living person
is derived from hers.
Mitochondrial Eve is believed to have lived
about 170,000 years ago, or roughly 8,000
generations ago. This places her shortly
after the speciation of Homo sapiens and
the emergence of the first anatomically
modern humans.
Mitochondrial Eve would have been roughly
contemporary with humans whose fossils
have been found in Ethiopia near the Omo
river and at Hertho. Mitochondrial Eve lived
significantly earlier than the out of Africa
migration which occurred some 60,000
years ago.
The existence of Mitochondrial Eve and
Y-chromosomal Adam does not imply
the existence of population bottlenecks
or a first couple. They each may have
lived within a large human population at
different times.

different alleles are fixed by

chance in different populations
deme

drift reduces genetic

variation within each
deme over time, but
increases variance in
allele frequencies
between demes within a
metapopulation

random genetic drift acts

more rapidly in small effective
population sizes

the effective population size (breeding) is

often much smaller than the apparent
population size (census).
Why?

effective population sizes

may be smaller than census
population sizes
1. Variation in numbers of progeny produced by males, females, or
both -- e.g. elephant seal extreme example: most males may as well not
exist from a genetic point of view!
2. Sex ratio is different from 1:1
3. Increased variation in progeny number (i.e. not a normal, bellshaped curve), e.g. if larger individuals have more off-spring than smaller
we see a very biased sampling of the gene pool
4. If generations overlap (progeny mate with
parents) --- loss of heterozygosity and effective
number of genes propagated is reduced (clones)

examples of genetic drift operating

in natural populations
1. eastern collared lizard -- small,
reproductively isolated populations
Human actions disrupt the normal equilibrium between
genetic drift (purges genetic diversity) and gene flow by
migration (increases diversity within populations and
decreases diversity between populations)

Example - the collared lizard

Ozark Mountains (Missouri, USA)

Lives in glades (rocky outcrops) within what was once

desert, but is now Oak-Hickory forest (In the past 8,000-4,000
years, Missouri has become wetter and isolated these desert habitats into glades)

Templeton et al (1990) examined the distribution and

population structure of the collared lizard (Crotaphytus
collaris)
Human suppression of wild fires that used to occur at
~ 5 year intervals has caused habitat fragmentation,
reducing gene flow and increasing loss of variation
by genetic drift
- prevents lizards from migrating from one glade to another
- resulted in tiny populations of lizards with reduced genetic diversity

Example - the collared lizard

Ozark Mountains (Missouri, USA)

PREDICTION: lizard
populations strongly
affected by genetic
drift

Example - The collared lizard

Ozark Mountains (Missouri, USA)

7 distinct multi-locus genotypes found in the lizard

most glades fixed for a single multi-locus genotype with
different genotypes fixed in different populations

Example - The collared lizard

Ozark Mountains (Missouri, USA)
populations too small to
adapt to pathogens.

likely to become extinct

controlled burns of
forest resulted in
immediate migration of
lizards

hopefully the species

will now have a greater
chance of survival

bottlenecks
the gene pool randomly drifts when the population is
drastically reduced by a disaster that kills unselectively

the effects of bottlenecking can be

easily demonstrated with bacteria
start a culture
with a single
bacterium

incubate
overnight

propagate culture
from a single
bacterium

measure fitness
relative to
ancestor after
many
generations of
passage

incubate
overnight

propagate culture
from a single
bacterium
incubate
overnight

Bo:lenecks occur naturally in wild bacterial popula+ons -- selec+on by the

immune system and an+bio+cs are examples.

Mutation accumulation by
bottlenecking in bacteria

200 cycles = 5000 generations

Lind et al. PNAS 2008

population bottlenecks also occur in nature,

with profound effects: the cheetah

so closely related that skin grafts from one

animal to another do not cause immune
response

no genetic

heterozygosity

no polymorphic
loci

suffer genetic

effects including low fertility through in-breeding

thought to have gone through 2 bottlenecks

--- 10,000 years ago
--- 100 years ago

The trend is the same for

introduced bird species,
where higher hatching failures
are correlated with small
numbers of individuals at the
time of introduction to NZ.
These are examples of the
Founder effect.

Why do bottlenecks
lead to hatchling failure?

Figure 10.10, p. 266

Futuyma, Evolution, 2e

The failure rate rate for egg

hatch is greater in NZ bird
species that have suffered a
bottleneck in population size.
Data for 22 native species of
birds, many of which
approached extinction after
European settlement. Some
are still highly endangered,
such as #17, the Kakapo.

the founder effect

A slightly different sort of genetic bottleneck can occur
if a small group becomes reproductively separated
from the main population. This is called a founder
effect

Populations are often small when they have just been

founded by a group of individuals that have moved to
a new location

The allele frequencies of the new population are likely,

by chance, to be different to the source population ---for example, if a continental population of lizards has 35 alleles at a single locus,
then the probability = 0 that 15 lizards floating away from that population contains
all of the alleles

Dutch South Africans - Huntington s disease

 silvereye (taho or waxeye)

small birds native to australia
and tasmania

founder effect
example:
the waxeye

- colonized new zealand, chatham and

norfolk islands over the last 200 yrs.
- as the birds hopped from island to
island the allele diversity declined

clegg et al (2002) estimated the rate of genetic change

by comparing the level of neutral genetic variation in
island populations that have been established over a
range of time periods

"

Six loci were examined in each

population

founder effect
example:
the waxeye
2. single colonization events
in this species complex are
rarely accompanied by
severe founder effects, and
multiple founder events and/
or long-term genetic drift
have been of greater
consequence for neutral
genetic diversity.

1. results indicate that single

founder events do not affect
levels of heterozygosity or
allelic diversity, nor do they
result in immediate genetic
differentiation between
populations. Instead, four to
five successive founder
events are required before
indices of diversity and
divergence approach that
seen in evolutionarily old
forms.

Flocks of ~100 birds colonized at each migration

Summary Genetic Drift

Genetic drift vs. natural selection
Acts more rapidly in small populations
Coalescence
Bottlenecks, founder effects
Effective vs. census population size