Population Structure Flashcards

1
Q

What is the definition of a genetically structured population?

A

A population that is subdivided in some way so that individuals are more likely to breed with a near neighbour rather than a more distant individual - i.e. deviate from random mating with respect to location
- Can have structure in discrete units - e.g., subpopulations (demes)
- Or can be continuous - e.g., allele frequencies change due to geographical distance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Why is population structure important?

A
  • It allows allele frequencies to vary in diff places - for populations to evolve apart - primarily due to genetic drift
  • Is important for local adaption
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What effect does gene flow have?

A
  • Gene flow homogenises allele frequencies (limits local adaption) - counteracts population structure effects
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is genetic differentiation?

A

Gentic differentiation is the accumulation of allele frequencies that differ among sub-populations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are some of the different models that describe population structure?

A
  • Island - number of discrete pops - equal probability of migration between any population
  • Stepping stone / (2D) - sequential stepwise migration between population - move one-by-one
  • Continuous - migration throgh continuous range limited by dispersal distance - higher probability of breeding with nearer neighbours
  • Source-sink - through the core of a species range to the edge
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

How can we think of population structure in a hierarchical way?

A
  • Individuals
  • Sub-populations
  • Regions - groups of sub-pops
  • Total population
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

How can we measure/quantify population structure / genetic differentiation?

A

F statistics:
- Can be seen as the probability of Identity by Descent (IBD) between 2 sequences or 2 alleles
- With random mating - doesn’t matter where you pick sequences/alleles from, but does matter for this (non-random mating)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are the 3 types of F statistic?

A
  • Fis = probability of IBD of 2 gene copies in a single individual (‘inbreeding coefficient’)
  • Fst = probability of IBD of 2 genes in the same deme
  • Fit = probability of IBD of 2 randomly picked genes in whole pop
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What does Identity by Descent (IBD) mean?

A

Means that they have been derived from the same allele copy in the previous generation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is inbreeding and when does it arise?

A
  • Inbreeding occurs when two individuals that are related mate
  • Can be relatives, or because they share ancestry in past - e.g., result of bottleneck or founder effect
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the result of inbreeding?

A
  • Means that the progeny of inbreeding matings is more likely to be homozygous than if individuals were randomly mating - or from a pop with large Ne
  • Recessive deleterious mutations are therefore much more probable to occur in homozygous form
  • Therefore more likely to show physical and health defects and reduced fertility/fecundity
  • Causes less viable/lower fitness than individuals that are not the result of inbreeding
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is inbreeding depression?

A

Inbreeding depression is the name given to the reduction in fitness relative to outbred individuals

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Where can inbreeding often be observed in?

A
  • Domestic animals - result of selective breeding
  • Royalty and Nobility or human ethic groups with consangineous marriages
  • Populations of conservation concern
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

How can you measure inbreeding?

A

Fis statistic:
- If inbreeding occurs, gametes dont meet at random so the 2 gene copies in an individual have a higher probability of IBD (higher Fis)
- Fis = 0 - Hardy-Weinberg equilibrium
- Fis > 0 : deficity of heterozygots relative to HW expectations - may indicate inbreeding or departure from HW e.g.m pop structure
- Fis < 0 : excess of heterozygotes relative to HW expectations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How is pop structure related to inbreeding?

A
  • Pop structure generates deviation from HW equilibrium and can be considered as type of inbreeding - reducing heterozygosity compared to expected under random mating
  • Individuals in sub-pop ate more likely to mate within sub-pop than member of neighbouring sub-pop
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the Wahlund Effect?

A

The reduction in heterozygosity relative to expectations for a randomly mating population
- Often seen in real world - often caused by physical barriers such as rivers and mountains
- Tells us a lot about population structure

17
Q

How can you measure subdivision?

A

Fst:
- Fst is probability fo IBD of 2 gene copies taken at random from the same deme
- Or ‘how much less heterozygous is the deme than expected from whole population
- Similar to Fis - estimate Fst by the increase in chance of finding 2 compite of the same allele in the deme (vs wheat you would expect from random mating)
- Imagined as a ‘measure of proportion of genetic variation between pops’

18
Q

What do the values of Fst suggest about pop structure?

A
  • Low (Fst = 0 - 0.05) = little genetic differentiation = high gene flow (i.e. populations are very similar)
  • Fst > 0.25 = very high genetic differentiation = low gene flow (i.e. populations are very different/isolated)
19
Q

What is a permutation test and what is it used for?

A
  • Is used to assess if the observed value of Fst is statistically significantly different from zero
  • Statistical test after Fst values - generate many Fst values and see what proportion of Fst values is significantly different from zero
20
Q

What components of a population determines the Fst values?

A

The equilibrium between drift and migration:
- Drift = demes become more genetically different from each other
- Gene flow (migration) = makes demes genetically similar - homogenizes allele frequencies
- So - equilibrium depends on deme size (N) and migration rate (proportion of migrants)

21
Q

How can you model the drift-mutation balance?

A
  • Wrights idealised ‘Island Model’: Fst = 1 / 1 + 4Nm (N = deme size and m = number of individual migrants) - no geographic substructure
  • Stepping stone model: allows geograpic structure, exchange occurs between adjacent demes, mating choice limited by distance, isolation by distance model
22
Q

What is Principle component analysis (PCA)?

A
  • Multivariate method of extracting and summarising relevant information from complex datasets
  • Transforms a large number of possibly correlated variables - e.g., SNP frequencies, haplotype frequencies and pairwise differences in pops
  • Used to explain the variance structure of a set of variables through some linear combination of these variable - to extract the principle components - e.g., can plot components against each other to visualise data
23
Q

What is an assignment test?

A
  • Aim to match an individuals genetic profile to where it has come from
  • Important in conservation, forensics etc
  • One way: frequency method - assign a probability of an individual coming from an individual population at each locus based on frequencies
  • Lends itslef to likelihood tests
24
Q

Give an example of an assignment test

A

Fishing fraud in a Finnish fishing competition:
- One overly impressive salmon
- Compared fish against a reference panel of fish to assess the likelihood of this fish coming from this lake/river
- 7 microsatellite loci
- 126 reference salmon from neighbouring lakes and rivers
- Suspect fish had extremely low probability of being from the competition lake

25
Q

What is a limitation of an assignment test?

A
  • Need lots of prior information about population structure - reference to compare to
  • Need assumptions of populations desugnation or allele frequencies
26
Q

What is Bayesian cluster analysis?

A

Based around Wahlund effect:
- i.e. mixing of genetically distinct population generates HW disequilibrium
- Assume that disequilibrium arises because of pop structure
- Algorithm that finds clusters of genotypes that minimise HW and gametic disequilibrium across datset
- Finds which cluster has the highest probability of being true

27
Q

Why is Bayesian analysis good?

A

You dont need any prior assumptions of population designation or allele frequencies / don’t need lots of information about population

28
Q

What can Bayesian analysis be used for?

A

To infer the number of populations contributing to a pool of individuals or unknown
- Assign individuals to populations
- Estimate proportion of an individuals ancestry that originates from each pop (admixture pops), can be used to identify the offspring of immigrants or hybrids

29
Q

Give an example of the use of Bayesian cluster analysis?

A

Kenyan Taita thrushes
- Identifies where genotypes match to
- Identifies which individuals may be migrants / offspring of migrants

30
Q

What are the limitations of Bayesian Cluster analysis?

A
  • Assumption of random mating limits use with selfing species
  • Processes other than subdivision can generate HW and gametic disequilibrium
  • For pop assignment required true population of origin to be sampled