Genome Structure Flashcards

1
Q

How big (roughly) is the human genome?

A

3 gbps

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2
Q

Roughly how many genes does the human genome contain?

A

20000 genes

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3
Q

Which histones form the nucleosome?

A

2 each of H2A, H2B, H3 and H4

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4
Q

What does histone 1 do?

A

Binds linker DNA between nucleosomes

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5
Q

What is a metacentric chromosome?

A

Where short and long arms are of equal length

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6
Q

What is a submetacentric chromosome?

A

Long long arm and short short arm

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7
Q

What is an Acrocentric chromosome?

A

When a chromosome doesnt have a short arm

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8
Q

What is the arm length of a chromosome defined by?

A

The position of the centromere

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9
Q

What are the different definitions of an exome?

A

all of the coding sequence or the whole gene sequence

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10
Q

What is a gene?

A

All the DNA that is transcribed into RNA + all the local control regions that are required to ensure quantitatively appropriate tissue-specific expression of the final protein

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11
Q

How much of the genome is intergenic?

A

98%

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12
Q

What does the intergenic region contain?

A

Sequences of no known function

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13
Q

What do gene clusters allow for?

A

Coordinated gene regulation but may just reflect the evolutionary history

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14
Q

If you have ‘n’ exons, how many introns do you have?

A

N-1

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15
Q

Can you have a gene with no introns?

A

Yes

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16
Q

Where are TATA boxes found and what do they do?

A

Promoter region

Recruit general transcription factors and RNA polymerase

17
Q

Where are regulatory elements found and what do they do?

A

Promoter regions

Regulate recruitment of RNA polymerase

18
Q

What direction can RNA polymerase move in?

A

5’ to 3’

19
Q

What are the three types of regulatory regions?

A

Enhancers, silencers and insulators

20
Q

What do enhancers do in regulatory regions?

A

Upregulate gene expression

21
Q

What does position independant mean?

A

They can take affect from anywhere (ie in the gene or many kilo bases away)

22
Q

What type of transcription factors are the enhancers targets for?

A

Activators

23
Q

What type of transcription factors are the silencers targets for?

A

Repressors

24
Q

What do silencers do in regulatory regions?

A

Downregulate gene expression

25
Q

What are insulators in regulatory regions?

A

Short sequences that act to prevent enhancers/ silencers influencing other genes

26
Q

How has the organisation of somatic nuclear DNA been identified?

A

Hi-C and high throughput microscopy

27
Q

What does Hi-C detect?

A

Genomic DNA sequences in close proximity

28
Q

What does the organisation of somatic nuclear DNA involve?

A

CTCF protein and cohesin protein complex, as well as transcription machinery

29
Q

What are the names of the two compartments that the genome is split into?

A

Compartment A and B

30
Q

What do the genes in compartment A do?

A

Transcriptionally active with active histone modifications

31
Q

What do the genes in compartment B do?

A

Transcriptionally repressed with repressive histone modifications

32
Q

When are the compartments made apparent?

A

In the 3D genome structure

33
Q

What are the compartments made up of?

A

Non-interacting topologically associated domains (TADs)

34
Q

What are topologically associated domains (TADs) seperated by?

A

The transcriptional repressor CTCF protein

35
Q

How do the CTCF proteins control transcription?

A

The cohesin complex starts loading and extruding a length of DNA until it hits the CTCF proteins, which block any further extrusion taking place and forming a loop