Epigenetics, Genomic Imprinting, and X-inactivation Flashcards

1
Q

Epigenetics

A

Stable and heriable Changes in gene expression not related to DNA sequence changes

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2
Q

Epigenetic change brings

A

Altered expression levels

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3
Q

Mutated gene brings

A

Altered protein structure or altered protein level

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4
Q

Skewered X-inactivation

A

One allele may be more active than others…plays a role in x-linked recessive traits being expressed in females

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5
Q

Xist location

A

Gene located in the X-inactivation center of the X chromosome

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6
Q

Xist encodes

A

Long non-coding RNA that is expressed from the inactive X

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7
Q

Xist lncRNA

A

Coats the inactive X chromosome and facilitates its silencing

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8
Q

Most abundant DNA modification in our genome and what it is followed by

A

5mC…followed by a G…CpG dinucleotide

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9
Q

Other thing that happens to 5mC

A

Hydroxylated to become 5hmC

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10
Q

Enzymes responsible for methylating cytosine

A

DNMT…needs SAM-CH3…releases SAM

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11
Q

DNMT1

A

Maintenance methylase

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12
Q

DNMT3a and DMNT3b

A

De novo methylases

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13
Q

Methylation pattern is maintained through

A

Cell division

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14
Q

CpG dinucleotides found more often in

A

Promoters (CpG islands)

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15
Q

Most CpGs are

A

Methylated…EXCEPT for CpG islands which are typically unmethylated

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16
Q

Increase/decrease methylation effects

A

Increase - transcriptional silencing

Decreased - increased transcription

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17
Q

Chromatin composition

A

DNA , RNA, and porteins

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18
Q

Chromatin function and what is unique quality

A

Packages DNA but allows for replication, repair, and trascription

It is dynamic

19
Q

Nucleosome made of

A

DNA and histone

20
Q

Nuclease will

A

Digest linker DNA

21
Q

High concentration of salt will

A

Dissociated histone core and DNA

22
Q

Component parts of nucleosome

A

H2A, H2B, H3, H4

23
Q

Histone variation

A

Variant forms can be incorporated into nucleosome

24
Q

Histone mobilization

A

Enzymes can more nucleosomes

25
Histone modification
Multiple types exist
26
Histones are moved by
ATP dependent process that is often facilitated by TFs and co-regulators
27
Nucleosome free regions are
More accessible to other proteins like TFs and RNA polymerase...example is promoter...result of histone mobilization
28
Acetylation and deacetylation of histones
Acetylation leads to Increase gene expression and vice versa HATs, p300/CBP acetylate HDACs deacetylate
29
Histone code is
Dynamic and has memory
30
Genomic imprinting
Parent-of-origin expression of autosomal genes...imprint maintained throughout life but erased and reestablished from one gen to next...associated with DNA methylation
31
Paternal and maternal autosomal genes are
Both required for normal development...NOT equally expressed
32
Many imprinted genes control
Embryonic growth and brain fevelopment
33
H19 codes and regulation
lncRNA (not for a protein)....only female transcribed...paternal is imprinted (silent)
34
Igf2 encodes and regulation
Fetal growth factor...only male derived...maternal is imprinted
35
Mechanism of H19 and IGF2
Maternal - CTCF bound to insulator so H19 is on Paternal - insulator and H19 heavily methylated so IGF2 is on Enhancer helps transcirbe both
36
Transcriptionally active DNA charactersitics
Open chromatin Hypomethylated DNA Histones acetylated Transcriptionally asilent is the opposite
37
Barker Hypothesis
Reduced nutrients during fetal hrowth leads to epigenetic changes to maximize energy utility which leads to chronic conditions later in life
38
Oncogenes activated by
Loss of DNA methylation
39
TUmor suppressors silenced by
DNA methylation
40
Mutation of imprinted genes can lead to
Prader-willi and Angelman's syndrome
41
When are x-chromosomes inactivated in females?
16-32 cell stage...once established, it is maintained throughout all progeny of that cell
42
Xist located in
X-inactivation center
43
Sole methyl donor for DNA methylation
S-adenyl methionine (SAM)
44
How is methylation passed during replication?
During DNA replication, will have a hemimethylated strand until maintenance methylase comes in an methylates so that pattern is maintained (DNMT1)