Lecture 21. Applied Evolutionary Genetics Flashcards

1
Q

What do gene trees do not always match ?

A

Species tree

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2
Q

What is a gene and a species tree that matches called ?

A

Concordant

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3
Q

What is incomplete lineage sorting ?

A

If the time between the two divergences is short and the population is large neither allele may reach fixation before the next split

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4
Q

What is another way to describe incomplete lineage sorting ?

A

Retention of ancestral polymorphism through speciation events

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5
Q

What are gene trees and species trees that do not match called ?

A

Discordant

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6
Q

What is an example of incomplete lineage sorting ?

A

Modern and archaic human population

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7
Q

What would prevent the number of discordant gene trees that place non-African with Neanderthal equaling the number that place African with Neanderthal ?

A

Gene flow has increased the number of gene trees that group Non-African with Neanderthal

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8
Q

What is introgression ?

A

The transfer of genetic material between species or subspecies through horizontal event followed by backcrossing with the parental species

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9
Q

What can be used to detect and measure gene flow ?

A

Deviations from simple phylogenetic expectation

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10
Q

Why do present day Eurasians show less Neanderthal ancestry than prehistoric Eurasians ?

A

Neanderthals carried more deleterious variants due to long-term small population sizes and inbreeding. Neanderthal ancestry was associated with reduced fitness

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11
Q

What are many human diseases caused by ?

A

Mutations in single genes

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12
Q

What is haploinsufficiency ?

A

One functional allele insufficient to get the job done

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13
Q

What is dominant negative mutation ?

A

Faulty protein is produced and interferes with the wildtype allele’s function

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14
Q

Roughly, how many de novo mutations does a newborn carry ?

A

75

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15
Q

What is a major source of mutation ?

A

DNA replication

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16
Q

What varies between males and females ?

A

Germline replications

17
Q

What do both sexes undergo by onset of puberty ?

A

A similar number of mitotic cell divisions

18
Q

What do males have after puberty ?

A

About 23 replications per year because of frequent mitotic divisions of spermatogonial stem cells

19
Q

What do older fathers pass on to their offspring ?

A

More mutations

20
Q

What are some regions of the genome ?

A

Inherently less stable and therefore more prone to mutation

21
Q

What can duplicated regions of the genome do ?

A

Can confuse replication and recombination machinery, leading to mutation, including deletions and further duplication

22
Q

Where is the olduval protein domain found ?

A

Found repeated in NBPF genes involved in neuronal development

23
Q

Where are NBPF genes experienced ?

A

In rapid duplications in ancestors of monkeys

24
Q

What are more copies of the NBPF genes associated with ?

A

Larger brain sizes and lobe surface areas

25
Q

What is the correlation of NBPF ?

A

Copy number and mathematical aptitude in humans

26
Q

How have high regions of olduval repeats effected regions with NBPF ?

A

Made them unstable and prone to further duplication or deletion

27
Q

What diseases has the instability linked to NBPF caused ?

A
  1. Schizophrenia

2. Autism

28
Q

What increases the frequency of both common and rare recessive traits ?

A

Close inbreeding

29
Q

What can increase the frequency of recessive disease alleles ?

A
  1. Founder effects

2. Bottlenecks

30
Q

What happens with genetic drift in smaller populations ?

A

It is stronger and selection cannot act as effectively

31
Q

How will disease variants that only have a minor fitness act ?

A

The impact will persist longer

32
Q

What is required to push individual over disease threshold ?

A

Multiple risk alleles

33
Q

What is the effect size of a risk allele ?

A

The size of contribution it has to your risk of developing the disease

34
Q

What will the most common low effect risk alleles be ?

A

Selectively neutral or have low selection coefficients