Genetic variation - Biochemistry Flashcards

(58 cards)

1
Q

What is genetic variation and why does it matter?

A

Genetic variation refers to differences in DNA among individuals and is crucial for populations to adapt to biotic (e.g. pathogens) and abiotic (e.g. temperature) challenges through natural selection or genetic drift.

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2
Q

How can the same species look very different?

A

Selective breeding or adaptation can produce diverse phenotypes (e.g. cabbage vs. broccoli) from one species due to variation in gene expression and selective pressures.

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3
Q

What’s the difference between intra- and inter-population variation?

A

Intra-population variation = diversity within a population;
Inter-population variation = divergence between populations, often increased by barriers to gene flow.

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4
Q

What is genetic drift and how does it occur?

A

Genetic drift is random change in allele frequencies, especially in small populations or when populations are isolated, leading to fixation or loss of alleles.

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5
Q

What is natural selection?

A

Natural selection favors traits that increase survival or reproduction. Over time, it can lead to significant adaptations (e.g. aquatic traits in ancestors of whales).

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6
Q

How has human activity influenced genetic variation?

A

Through selective breeding and artificial mutagenesis, humans have dramatically shaped crop and livestock genomes (e.g. modern watermelon or pasta wheat).

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7
Q

What are common sources of mutations in nature?

A

Mostly from DNA replication errors, though also from environmental factors like radiation. Mutation rates are higher in dividing cells and male germlines.

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8
Q

What roles do sexual reproduction and recombination play?

A

They shuffle alleles to produce new genetic combinations, increasing diversity in offspring.

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9
Q

What are synonymous vs. non-synonymous mutations?

A

Synonymous: No change in amino acid = typically neutral
Non-synonymous: Alters amino acid = may affect protein function

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10
Q

What does it mean for a mutation to be “fixed”?

A

A mutation is fixed when it is present in all individuals of a species/population — this can occur via drift or selection.

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11
Q

What are synonymous sites in the genome?

A

Sites where DNA mutations do not affect protein function, maintaining protein coding despite variation.

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12
Q

What is a founder population?

A

A new, isolated population formed by a small number of individuals from a larger population, often after a bottleneck event.

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13
Q

How does isolation affect evolutionary divergence?

A

Isolated populations diverge faster due to limited gene flow and stronger genetic drift.

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14
Q

What is a genetic bottleneck?

A

A sharp reduction in population size that limits genetic diversity and accelerates allele fixation.

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15
Q

Give an example of an artificial bottleneck.

A

Artificial insemination in cattle, where using a few males across many females reduces genetic diversity.

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16
Q

Why are potatoes an example of low genetic diversity?

A

Because they are propagated clonally through tubers, bypassing genetic recombination.

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17
Q

What happens to most new mutations in small populations?

A

They are lost due to drift, but those that do fix do so quickly.

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18
Q

How does fixation differ in large populations?

A

More mutations are eventually fixed, but the process is slower due to larger gene pools.

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19
Q

What is polyploidy?

A

Whole genome duplication resulting in more than two sets of chromosomes.

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20
Q

Difference between autopolyploidy and allopolyploidy?

A

Autopolyploidy = duplication within one species; Allopolyploidy = combining genomes from different species.

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21
Q

Example of extreme polyploidy in plants?

A

Black mulberry has 44 chromosome sets.

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22
Q

Example of extreme polyploidy in animals?

A

Ugandan clawed frog (Xenopus) with 12 chromosome sets.

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23
Q

What is paleo-polyploidy?

A

Ancient whole genome duplications followed by rediploidization over time.

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24
Q

What are homeologous chromosomes?

A

Chromosomes from different origins that are similar due to ancient polyploidy

25
How does Arabidopsis thaliana show paleo-polyploidy?
Its genome retains regions from ancient whole genome duplications that later became diploid again.
26
How many genome duplication events has Atlantic salmon undergone?
Four events, including one specific to the salmon lineage ~125 million years ago.
27
What is the biological species concept?
A species is a group of organisms that can interbreed and produce fertile offspring.
28
Why is the species concept not always clear-cut?
Hybridisation between "species" like brown and polar bears shows that genetic exchange can blur boundaries.
29
Evidence of gene flow between polar and brown bears?
8.8% of brown bears have polar bear DNA; polar bears have brown bear mitochondrial DNA.
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What does this say about species?
Species are not fixed genotypes; they are pools of genetic variation.
31
What do dogs and Brassica vegetables have in common genetically?
They represent high phenotypic diversity within a single species due to human selection.
32
Examples of phenotypic divergence in Brassica oleracea?
Cabbage (leaves), Brussels sprouts (buds), broccoli (flowers), etc., all from the same species.
33
Can different species interbreed?
Yes; there are ~600 known mammalian hybrids and many plant hybrids like apples, wheat, and coffee.
34
What is heterosis (also known as hybrid vigor or heterozygote advantage)?
It's when offspring resulting from a cross between different species or varieties perform better than either parent, showing improved traits such as size, yield, or fitness.
35
What is an example of heterosis in strawberries?
The modern strawberry is a hybrid between a small, sweet European strawberry and a larger South American strawberry, resulting in a bigger, tastier fruit.
36
What causes the unusually large size of ligers?
Ligers (male lion × female tiger) lack growth-inhibiting genes present in their parent species, resulting in excessive growth.
37
Why are tigons smaller than ligers?
Tigons (male tiger × female lion) inherit growth-inhibiting genes from both parents, keeping their size similar to the parents.
38
What is an example of heterosis in plants?
Arabidopsis crosses (e.g., C24 × Landsberg erecta) produce larger, more vigorous plants than either parent.
39
Which two species are crossed to make oilseed rape (Brassica napus)?
Brassica rapa and Brassica oleracea.
40
What is a common issue with hybrids between species with different chromosome numbers?
They are often sterile due to incompatibility in chromosome pairing during meiosis.
41
What is transgenesis (formerly known as genetic modification)?
The artificial introduction of genes from one species into another, typically using markers to track gene insertion.
42
What modern technique allows precise changes at the nucleotide level in genomes?
Genome editing, including CRISPR and TALENs.
43
Why is genome editing less controversial than early transgenesis?
It can avoid leaving behind marker genes, making changes indistinguishable from natural mutations.
44
Can horizontal gene transfer occur in nature?
Yes, DNA transfer can occur between parasitic plants and hosts, and among other organisms.
45
What plant is naturally transgenic due to bacterial DNA insertion?
Sweet potato.
46
What percent of the human genome is thought to be retroviral or virus-derived?
Approximately 40%.
47
What is endosymbiosis?
A process where ancestral eukaryotic cells incorporated free-living bacteria (e.g., mitochondria, chloroplasts), which evolved into organelles.
48
Why can mitochondria and chloroplasts not live independently today?
Their genomes are now interdependent with the host cell's nuclear genome due to extensive gene transfer.
49
What are two main methods to detect genetic variation?
RFLPs (restriction fragment length polymorphisms) and SNPs (single nucleotide polymorphisms).
50
Why are SNPs now preferred over RFLPs?
SNPs are more precise, scalable, and easier to automate for large datasets.
51
How are SNPs used to identify plant varieties (e.g. Basmati rice)?
By comparing SNP patterns across multiple genes to distinguish between varieties.
52
What does a SNP chip do?
It detects known SNPs across a genome to identify individual or variety-specific patterns.
53
What is GWAS used for?
Finding genetic variants linked to traits (e.g., coriander taste preference).
54
What can SNP data reveal about human ancestry?
It shows Neanderthal DNA contributions and patterns of ancient interbreeding.
55
What does modern genomics say about the idea of species?
Species boundaries are often blurry and defined by humans, not clear-cut genetics.
56
What are the main drivers of genetic diversity?
Selection, drift, and recombination, including artificial selection and hybridisation.
57
What metaphor does Dawkins use for the genome?
A "genetic palimpsest"—a layered record of past evolutionary environments.
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