genomes Flashcards

(43 cards)

1
Q

What is the approximate size of the human genome in base pairs?

A

The human genome contains approximately 3,000,000,000 base pairs.

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2
Q

What is the maximum percentage of the human genome that codes for proteins?

A

At most, 3% of the human genome codes for proteins.

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3
Q

Approximately how many genes does the human genome contain?

A

The human genome contains approximately 19,600 genes.

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4
Q

Roughly what proportion of the human genome consists of regulatory genes?

A

About 10% of the human genome consists of regulatory genes.

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5
Q

Approximately 85% of the human genome is considered ‘junk’ DNA, meaning its deletion would have ____ on fitness.

A

no effect

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6
Q

What is the ‘C’ paradox in genomics?

A

It is the phenomenon where the size of genomes differs significantly between organisms, not correlating with complexity.

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7
Q

What is the term for sequences of DNA that can move to new positions within the genome?

A

Transposons, also known as mobile genetic elements.

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8
Q

Who first developed the idea that genes can move, based on studies of maize in the 1940s?

A

Barbara McClintock.

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9
Q

The simplest transposons produce an enzyme called _____ that allows them to ‘unglue’ and ‘jump’.

A

transposase

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10
Q

What is the mechanism by which retrotransposons insert themselves into a new location in the genome?

A

They produce RNA, which is then reverse transcribed back into DNA before insertion.

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11
Q

How can the movement of transposons act as an agent of evolution and disease?

A

By producing mutations, which are implicated in some cancers and developmental disorders.

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12
Q

What mechanism does a ‘host’ genome use to prevent transposition and its associated mutations?

A

Methylation is a character favoured to prevent transposition.

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13
Q

BovB elements, a type of LINE, make up what percentage of the cow genome?

A

Around 25% of the cow genome is composed of BovB elements.

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14
Q

The BovB elements found in cows are more closely related to elements found in which other animal group?

A

They are more closely related to elements found in snakes.

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15
Q

What is the proposed vector for the horizontal gene transfer of BovB elements into the cow genome?

A

Ticks are believed to be involved in the acquisition of this DNA.

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16
Q

What is the primary function of Antifreeze Glycoproteins (AFGPs) in Northern gaddids like the Arctic cod?

A

They prevent ice crystals from forming and acting as nucleation sites, keeping the blood from freezing.

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17
Q

The evolution of the AFGP gene is a key example of how seemingly ‘irreducibly complex’ systems can arise through what?

A

Purely naturalistic evolutionary processes like translocation and duplication.

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18
Q

What is the repeating amino acid sequence that forms the protein core of the fish Antifreeze Glycoprotein (AFGP)?

A

Threonine-alanine-alanine (Thr-Ala-Ala).

19
Q

How did the secretory protein component of the AFGP gene become functional?

A

It became capable of producing the signal protein after a single nucleotide deletion.

20
Q

The entire AFGP system remained nonfunctional until the protogene moved near a nonfunctional DNA region that could serve as a _____.

A

promoter region

21
Q

Once the AFGP system became functional, how did natural selection refine its antifreeze properties?

A

By selecting for more duplications of the Thr-Ala-Ala segment, as more repeats confer greater protection.

22
Q

Syncitins

A

Genes required for the development and function of the mammalian placenta, which originated from endogenous retroviruses.

23
Q

Syncitin genes, crucial for the placenta, originated from genes that once encoded the envelope of a _____.

24
Q

The process where existing genes, such as viral genes for syncitins, are repurposed for a new function is known as what?

25
What is horizontal gene transfer (HGT)?
The movement of genetic material between different organisms, other than by parent-to-offspring inheritance.
26
In multicellular organisms, horizontal gene transfer is generally found to involve a _____ or a _____.
parasite or a symbiote
27
Why is HGT considered a minor source of genetic variation in multicellular organisms?
Because evolutionary trees based on nuclear genes still generally hold true.
28
How did the *Spodoptera* moth acquire an immune barrier via horizontal gene transfer?
It acquired it through a virus that lives in a parasitoid wasp.
29
How did some pea aphids acquire the ability to produce carotenoids, which are usually obtained from food?
Through horizontal gene transfer, which conferred the reddish colour linked to predation avoidance.
30
How has genome sequencing challenged the concept of 'irreducible complexity'?
By reconstructing complex evolutionary paths, like that of the AFGP gene, showing they can form via known natural processes.
31
By comparing genomes, researchers identified 25 new gene groups that appeared at the origin of which major taxon?
Animals.
32
According to genomic analysis of 62 genes, insects are now classified as a type of what?
Crustaceans, as they are nested within the Pancrustacea.
33
Genomic sequencing has led to the argument that there are how many distinct species of giraffe?
Four distinct species, which diverged 1-2 million years ago with no observed gene flow.
34
What is Environmental DNA (eDNA)?
A technique involving the extraction of DNA sequences from environmental samples like soil or water, without capturing the organism itself.
35
Why is it more accurate to speak of 'human genomes' in the plural, rather than a single 'human genome'?
Because genome projects reveal that genetic variation was severely underestimated, with no single representative sequence.
36
Compared to the reference human genome, individuals of recent African descent were found to have how much more DNA?
10% more DNA, highlighting the underestimation of genetic variation.
37
What specific gene shows strong evidence of natural selection in Tibetans for adaptation to high altitude?
The EPAS1 gene, which controls red blood cell production.
38
What percentage of Tibetans carry the specific high-altitude adaptation mutation in the EPAS1 gene, compared to 9% of Han Chinese?
87% of Tibetans carry the mutation.
39
The Bajau people, who dive for long periods, show selection on the PDE10A gene, leading to what physiological adaptation?
Larger spleens, which act as a reservoir of red blood cells.
40
What are the two competing selective pressures that influence the evolution of skin colour in humans?
Protection against UV radiation (favouring darker skin) and the need for vitamin D biosynthesis (favouring lighter skin).
41
Why is the biological concept of 'races' considered invalid based on the genetics of skin colour?
Because skin colour is a superficial trait that does not correlate consistently with any other trait.
42
What evidence suggests human adaptation to past pandemics in East Asian populations?
Strong signs of selection dating back 20,000 years on 420 genes that code for proteins interacting with coronaviruses.
43
What was the initial source of the repeating Thr-Ala-Ala sequence in the fish AFGP core?
A duplication of a noncoding sequence (GCAGCAGCA) that was converted via mutation.