Genome Flashcards

1
Q

What percentage of the human genome codes for proteins?

A

At most 3%

This indicates that the majority of the genome does not directly code for proteins.

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2
Q

How many genes were identified during the Genome Project?

A

19,600 genes

This was a result of the efforts during the Human Genome Project.

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3
Q

What is the function of transposons?

A

Sequences of DNA that can move in the genome

They are also known as mobile genetic elements and make up 50% of the human genome

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4
Q

What are retrotransposons?

A

Transposons that produce RNA, which is reverse transcribed into DNA and then inserted into the genome

They can be remnants of retroviruses.

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5
Q

What is the role of transposons in evolution and disease?

A

Movement can produce mutations and may be involved in some cancers and develop mental disorders

Some transposons produce small interfering RNAs which act to prevent transposition

*Any character that prevents transposition (e.g. methylation) would be favoured to prevent mutation

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6
Q

What is horizontal gene transfer?

A

The transfer of genetic material between organisms other than through traditional reproduction

It is widespread among prokaryotes and can lead to adaptations.

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7
Q

What are syncitins and their significance?

A

Genes that once encoded the envelope of a retrovirus, crucial for the evolution of the mammalian placenta

They are involved in controlling gene expression during pregnancy.

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8
Q

What is environmental DNA (eDNA)?

A

Extraction of sequences without an organism, mainly from soil, water, and air

It is a non-invasive technique used in conservation and ecology.

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9
Q

True or False: There is a single ‘human genome’.

A

False

There are multiple human genomes with variations among individuals.

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10
Q

What percentage of genetic variation exists among humans?

A

On average, we differ from each other by 0.1%

This represents about 3 million base pairs of difference.

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11
Q

What adaptation has been observed in the Bajau people of Southeast Asia?

A

Selection on PDE10A gene leading to larger spleens, acting as a reservoir of red blood cells

This adaptation is linked to their ability to dive for long periods.

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12
Q

How many groups of genes are necessary to be classified as an animal?

A

25 groups of genes

These include homeobox developmental genes, signaling pathways, and cell adhesion molecules.

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13
Q

What is the significance of the EPAS1 gene in Tibetans?

A

Controls red blood cell production; mutation found in 87% of Tibetans

This adaptation helps them survive in high-altitude environments with less oxygen.

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14
Q

Fill in the blank: Skin colour involves at least ______ genes.

A

15 genes

The genetics of skin colour is complex with substantial variation particularly in Africa.

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15
Q

What is the implication of the study on giraffe species conducted in 2016?

A

Identified four species of giraffes based on genetic sequencing

This study challenged previous assumptions based on morphology.

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16
Q

What percentage of the cow genome is composed of BovB elements?

A

Around 25%

This indicates significant genetic contributions from other species, such as snakes.

17
Q

What are the key concepts highlighted in the educational content?

A
  • Proportion of protein-encoding genes
  • Transposon origins of much ‘junk’ DNA
  • Fish glycoprotein and placental examples
  • Horizontal gene transfer – limits and implications
  • How genomes can shed light on evolution
  • Examples of natural selection and adaptation in humans

These key concepts summarize the major themes discussed in the content.

18
Q

How much of the genome is regulatory genes?

A

10% = produce RNA

19
Q

What is the simplest type of transposon?

A

Produce transposase (an enzyme) which enables ‘ungluing’ and ‘jump’ (inserts itself into genome)

20
Q

How are new genes formed?

A
  • Duplication in non-coding sequence
  • Base change led to it being tagged as secretory
  • Translocation brings promoter sequence near promoter region (by chance)
  • Enables it to be functional

Series of ‘tinkering’ steps, either neutral or very slightly advantageous with natural selection refining the final step

21
Q

What is vertical gene transfer?

A

Transfer of genes from parent to offspring