Regulation of Gene Expression I Flashcards

(46 cards)

1
Q

What are the 2 major modifications that dictate if a region of a chromosome is active vs inactive?

A

DNA methylation

Histone modification

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2
Q

Where is DNA methylated?

A

5-methyl cystosine

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3
Q

What is chromatin composed of?

A

DNA plus all the associated proteins stuck on it

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4
Q

What is a histone?

A

Core of nucleosomes, with DNA wrapped around it

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5
Q

in eukaryotes, most genes are ___.

A

Silenced

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6
Q

What are the characteristics of the DNA and histones in heterchromatin?

A

DNA is hypermethylated at CpG dinucleotides

Histones are deacetylated

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7
Q

What are the characteristics of the DNA and histones of euchromatin?

A

DNA is hypomethylated

Histones are acetylated

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8
Q

Which is being actively transcribed, heterochromatin or euchromatin?

A

Euchromatin

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9
Q

What do histone acetyl transferases (HATs) do?

A

Unwind DNA to promote transcription

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10
Q

What do histone deacetylases (HDACs) do?

A

Reverse HATs and form nucleosomes

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11
Q

When chromatin relaxes, what results?

A

Hypersensitivity to DNase treatment

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12
Q

What does epigenetic mean?

A

Changes in phenotype without changes in genotype - Genes are the same, but only some are active in certain tissues

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13
Q

What is the gene silencing mechanism?

A

DNA methylation

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14
Q

What is the gene activation mechanism?

A

Histone acetylation

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15
Q

What are the 2 epigenetic modification activating marks that we need to know?

A

Histone acetylation of H3 and H4

Unmethylated CpG

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16
Q

What are the 2 epigenetic modification silencing marks that we need to know?

A

Histone deacetylation at H3 and H4

Methylated CpG

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17
Q

DNA methylation = ?

A

Gene silencing

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18
Q

CpG pairs have been lost from the genome over time except in ___.

A

Euchromatin

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19
Q

What does spontaneous deamination of 5-methyl cytosine yield?

20
Q

CpG sites are hotspots for what?

A

Genetic mutation

21
Q

What do methylcytosines do?

A

Attract/recruit repressor proteins - directly block transcription factor from binding; may recruit other proteins to block transcription of the gene

22
Q

Histone deacetylation is a marker for what?

23
Q

What regulates X-inactivation?

A

The Xist gene transcript, transcribed from the inactivated X chromasome

24
Q

What are the classic examples of genomic imprinting?

A

Prader-Willi

Angelman

25
If only paternal genes are expressed, which disease is present?
Angelman
26
What is the mutant chromosome present in Angelman?
Mutant maternal chromosome 15
27
If only maternal genes are expressed, which disease is present?
Prader-Willi
28
What is the mutant chromosome in Prader-Willi?
Mutant paternal chromosome 15
29
What are the symptoms of Prader-Willi?
``` Mental retardation Obesity Hypogonadism Small hands and feet Itchy skin Voracious appetite ```
30
What are the symptoms of Angelman?
``` Mental retardation Hypotonia Absence of speech Large mandible Tongue thrusting Epilepsy ```
31
DNA methyltransferases uses what as the methyl donor?
SAM
32
Which enzyme is important in silencing genes?
THF
33
Folate deficiency during development increases the risk of what?
Neural tube defects
34
Hyperhomocysteinuria increases the risk for what?
Cardiovascular disease
35
What 2 things does smoking cause in genes?
Hypomethylation of oncogenes (increases activity of proliferation genes) Hypermethylation of tumor suppressor genes (turns them off)
36
What DNA-protein interactions are required in transcriptional regulation? (proteins)
DNA binding proteins | Chromatin modifiers
37
What DNA-protein interactions are required in transcriptional regulation? (DNA)
Core promoter sequences | Enhancer/repressor DNA sequences
38
What are the DNA binding proteins that regulate transcription initiation?
Transcription factors (TFs)
39
TFs serve as recruiters for what?
The basal transcriptional machinery, like RNA polymerase
40
Binding of TFs can increase the transcription rate of a gene by how much?
Many thousand fold
41
What do basal factor TFs do?
Position RNA polymerase on the core promoter
42
What do activators do? (TFs)
Bind to enhancer elements | Increase rate of assembly of transcriptional machinery (like NFkB, P53)
43
What are the classes of TFs?
``` Basal factors Activators Co-activators Repressors Chromatin modifiers ```
44
Co-activators are also known as what?
Mediators
45
What do repressors bind to?
Silencer elements
46
What are the chromatin modifiers?
HATs HDACs HMG