Molecular Evolution Flashcards

1
Q

What is natural selection?

A

The effects of a wide range of factors on the frequency of heritable changes in a species

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2
Q

What is fitness?

A

How well a species can reproduce in its environment

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3
Q

What is the modern synthesis?

A

Evolution can be unified with genetics to explain molecular processes underlying evolution

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4
Q

What is the main source of heritable changes in a species?

A

Genetic variation

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5
Q

What are the four things that affect frequency of genetic variants?

A

Selection, mutation, migration and genetic drift

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6
Q

How does selection affect the frequency of genetic variants?

A

Variants that give a positive advantage will be selected for, however some vital genome sequences are conserved

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7
Q

How does mutation affect the frequency of genetic variants?

A

The process by which variation in the genome arises

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8
Q

What do mutation frequencies depend on?

A

Selection and when they first arose

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9
Q

What is it called when migration affects the frequency of genetic variants?

A

Admixture

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10
Q

What does admixture mean?

A

The movement of people from a different population results in new pools of variants being introduced into an existing population

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11
Q

How does genetic drift affect the frequency of genetic variants?

A

The frequency of variants changing due to chance - not all variations will be passed on

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12
Q

Why does sequence conservation happen?

A

To stop vital proteins being lost

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13
Q

Where is there high conservation?

A

Coding regions

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14
Q

Where is there intermediate conservation?

A

Promoter, 5’UTR, 3’UTR and terminator regions

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15
Q

Where is there low conservation?

A

Introns, 3rd codon base and parts of the terminator region

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16
Q

What is sequence conservation used for?

A

Cross species comparison and conservation

17
Q

Why is cross species comparison important?

A

To generate an evolutionary profile for a gene or gene family

18
Q

Why is cross species conservation important?

A

Allows us to identify important gene regions and allows us to concentrate on areas that are important in novel genes

19
Q

What is the main aim of a phylogenetic tree?

A

To illustrate the relatedness of different species/ strains/ sequences

20
Q

What determines the distance between two things on a phylogenetic tree?

A

How similar they are

21
Q

How is time estimated on a phylogenetic tree?

A

By measuring mutation rates

22
Q

What is gene duplication generally caused by?

A

Unequal crossing over during meiosis

23
Q

What happens to the genes after gene duplication has taken place?

A

One continues the original function, but the other evolves new functions through changes in the coding and/or control sequences

24
Q

What is unequal crossing over?

A

Recombination between sequences that are not the correct sequence but are very similar

25
Q

What are the two clusters of globin genes?

A

Alpha-like and beta-like

26
Q

Where are the alpha-like globin clusters found and what are they made up of?

A

Chromosome 16 - 3 genes and 3 pseudogenes

27
Q

Where are the beta-like globin clusters found and what are they made up of?

A

Chromosome 11 - 5 genes and 1 pseudogene

28
Q

What are the genes on the globin gene clusters arranged in order of?

A

Expression during development

29
Q

What has divergence of promoters allowed on the globin gene clusters?

A

They bind different transcription factors and allow the expression of genes at different stages of development

30
Q

What are pseudogenes?

A

Non-functioning genes that look similar to functioning genes

31
Q

How do pseudogenes come about?

A

Through many mutations

32
Q

When does sickle cell anaemia normally present?

A

5-6 months of age

33
Q

What are the main symptoms of sickle cell disease?

A

Anaemia, acute pain episodes, increased infection frequency

34
Q

What are the less common symptoms of sickle cell disease?

A
Stroke
Pulmonary hypertension
Gallstones
Liver and kidney problems
Joint problems 
Delayed puberty
35
Q

What causes sickle cell anaemia?

A

A single base substitution in the beta globin gene from GAG -> GTG

36
Q

Where does the substitution for sickle cell anaemia take place and what amino acids change?

A

Position 7 of the protein- glutamine -> valine

37
Q

What type of genetic disease is sickle cell disease?

A

Autosomal recessive

38
Q

Where is sickle cell disease common?

A

African, Mediterranean, Middle Eastern and Indian populations

39
Q

Why is sickle cell disease still common in some parts of the world?

A

One HbS variant confers resistance to severe malaria