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
What are insulators in regulatory regions?
Short sequences that act to prevent enhancers/ silencers influencing other genes
26
How has the organisation of somatic nuclear DNA been identified?
Hi-C and high throughput microscopy
27
What does Hi-C detect?
Genomic DNA sequences in close proximity
28
What does the organisation of somatic nuclear DNA involve?
CTCF protein and cohesin protein complex, as well as transcription machinery
29
What are the names of the two compartments that the genome is split into?
Compartment A and B
30
What do the genes in compartment A do?
Transcriptionally active with active histone modifications
31
What do the genes in compartment B do?
Transcriptionally repressed with repressive histone modifications
32
When are the compartments made apparent?
In the 3D genome structure
33
What are the compartments made up of?
Non-interacting topologically associated domains (TADs)
34
What are topologically associated domains (TADs) seperated by?
The transcriptional repressor CTCF protein
35
How do the CTCF proteins control transcription?
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