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Genome and Disease > Chromosomes > Flashcards

Chromosomes Flashcards

1
Q

What is the average length of the naked DNA in a human diploid cell?

A

2 metres

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2
Q

What are nucleosomes made from?

A

DNA and chromosomal

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3
Q

What are the two models for coiling of the chromatin loops?

A

Supercoiling Nucleosome Model

Radical-loop scaffold model

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4
Q

Describe the Supercoiling nucleosome model

how many nucleosomes per turn

A

10nm Nucleosome supercoil to form 30nm superhelix.

6 nucleosome per turn

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5
Q

Describe the radial-loop scaffold model

A

Non histone proteins bind at regular intervals to form loops tethering the 30nm superhelices

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6
Q

What are the 2 forms of chromosomes and what are the differences?

A

Acrocentric- centromere is not in the centre

Metacentric- centromere is in the centre of the chromosomes

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7
Q

Define Karyotyping

A

Process of pairing and ordering the chromosomes of an organism

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8
Q

What is the name of the short and long arms on a chromosome?

A

Short Arm=p

Long arm = q

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9
Q

Define Genome

A

Total of all the genetic information in an organism

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10
Q

Describe the prokaryotic genome

A

Single circular genome (haploid)
Sometimes carry episomes (aka plasmids; separate from main genome)
Small (bps) and compact

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11
Q

Describe the eukaryotic genome

A

Multiple copies of (linear, diploid but can be more) chromosomes within the nucleus
Circular mitochondrial and plastid DNA
Large(r) genomes (both bps and compactness)

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12
Q

Where are the chromosomes located?

A

In the nucleolus, in chromosome territories

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13
Q

How are chromosomes distributed?

A

Nonrandom radical distribution of chromosomes

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14
Q

How are CT positions correlated with gene content?

A

Gene poor= further outside near the membrane
Gene Dense = near the centre

These contain co regulated clusters

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15
Q

What are the two types of interphase chromatin ?

Do these are distinct CTs and TADs?

A

Heterochromatin/ Closed
Euchromatin / open

Yes

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16
Q

Describe the shape of Heterochromatin and if its transcribed

A

compact and not typically transcribed

17
Q

Describe the shape of the Euchromatin

A

relaxed and typically transcribed

18
Q

What is TAD?

A

Topologically-associated domains help seperate heterochromatic regions from euchromatic regions

19
Q

In a view of the chromosome territories

What is LAD?
What is NAD?
What is component A?
What is component B?

A 
LAD= Lamina associated domain
NAD= Nuclear Associated Domain
A= Active compartment
B= repressed compartment
20
Q

Histones determine chromatin states- how?

A

Histones are very basic eg Lysine and Arginine

Control the opening and compression of chromatin

21
Q

Name 2 histone modifying enzymes and what they have that is corresponding

A 
HATs=  Histone Acetyltransferases
HMTs= Histone methyltransferase

They have corresponding De-enzymes

22
Q

Define telomeres

A

The ends of the chromosomes

23
Q

Define centromeres

A

The specialised DNA linking sister chromatids

24
Q

Define promoter/enhancers

A

sequences that activates expression of nearby genes

25
Q

Define silencers

A

sequences that repress expression of nearby genes

26
Q

Define insulation

A

sequences that prevent more distal elements from affecting the expression of nearby genes

27
Q

Define gene

A

smallest unit of hereditary coding for a gene product

28
Q

How many of the human genome codes for proteins?

A

1.5%

29
Q

Why do muscles differ?

name 3 things

A

Different chromatin site
coding gene expression
non coding gene expression

30
Q

What is the central dogma?

And what does this mean for the causes of genetic diseases?

A

The ‘Central Dogma’ is the process by which the instructions in DNA are converted into a functional product.

Hence protein defects are a cause of genetic diseases
BUT that hasn’t been found and maybe due to NON-coding regions.

Which are known as pathogenic

31
Q

What is ENCODED?

A

List of functional elements of the human genome

Genome and Disease (15 decks)

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