Epigenetic Phenomena Flashcards

1
Q

What epigenetic change happens at CpG islands?

A

methylation of cytosines

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2
Q

Where are CpG islands often found?

A

close to 5’ end

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3
Q

How do CpG islands relate to the expression pattern of neighboring genes?

A

CpG methlyation can shut down expression of neighboring genes

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4
Q

Hypomethylation can reactivate what sort of elements?

A

transposable elements

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5
Q

What enzymes introduce de novo DNA methylation?

A

DNMT 3a and 3b

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6
Q

What enzyme maintains DNA methylation?

A

DNMT1

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7
Q

What is the function of methylcytosine binding proteins?

A

shutdown txn by binding to metyhlated cytosines

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8
Q

What proteins can MBPs directly associate with?

A

HDACs

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9
Q

At what terminus do modifications of histone proteins occur?

A

N-terminus

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10
Q

Methylated histones bind to what protein?

A

HP1

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11
Q

HP1 proteins can bind what?

A

histone methylases

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12
Q

What are chromatin barriers also known as? What is their function?

A

where cytosine methylation stops

to inhibit gene activity

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13
Q

What is the function of imprinting?

A

to mark whether a chromosome has come from the mother or the father

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14
Q

When does imprinting take place?

A

gametogenesis

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15
Q

What is the function of XIST?

A

to inactivate the X-chromosome

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16
Q

What is uniparental disomy?

A

when an individual only has maternally or paternally imprinted homologues

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17
Q

What disease is an example of uniparental disomy?

A

Beckwith-Wiedemann Syndrome

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18
Q

What chromosome is affected in Beckwith Wiedeman syndrome?

A

both homologues of chromosome 11 are inherited from the father

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19
Q

What receptor is overexpressed in BWS?

A

insulin-like growth factor 2

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20
Q

Prader Willi Syndrome results from what?

A

deletion on parental chromosome 15

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21
Q

What disease results from a deletion on maternal chromosome 15?

A

Angleman

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22
Q

Antibodies against what are produced during systemic lupus erythematosus? What cells are belived to be involved?

A

nuclear components

T cells

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23
Q

The activity of what protein is reduced during SLE in T cells?

A

DNMT1

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24
Q

HDAC inhibitors are used during what disease?

A

chronic lymphocytic leukemia

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25
Q

DNMT inhibitors are used in what disease?

A

acute myeloid leukemia

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26
Q

Name a DNMT inhibitor

A

5-azacytidine

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27
Q

Where is epigenetic information stored?

A

methylation pattern of cytosine and covalent modification of histones

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28
Q

What do writers do?

A

methylate cytosine

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29
Q

What do copiers do?

A

copy methylation pattern from an old strand to a new strand of DNA

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30
Q

What action do readers perform?

A

recognize methylated DNA and initiate silencing of affected chromosome regions

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31
Q

What section of DNA is composed of methylated cytosines? What does this do?

A

CpG dinucleotide repeats

silences that gene

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32
Q

What three types of genes are often silenced by CpG dinucleotide repeats?

A

highly repetitive DNA, telomeres, centromeres

33
Q

Where are CpG island often found? Are they methylated?

A

5’ UTR of genes

no

34
Q

What will hypomethylation often do to transposable elements?

A

reactivate them

35
Q

How is de novo methylation introduced into an unmethylated strand of DNA?

A

DNMT 3a and 3b

36
Q

What enzyme is responsible for maintaining the pattern of methylation in DNA?

A

DNMT1

37
Q

Which strand, parent or daughter, is methylated?

A

parent

38
Q

What protein binds methylated cytosines? What is the function of this protein?

A

methylcytosine binding proteins (MBPs)

to repress txn

39
Q

What is the function of H2Az?

A

increase txn of adjacent genes

40
Q

What proteins do methylated histones bind to?

A

HP1

41
Q

What happens to histones after they become de-acetylated?

A

they are often methylated

42
Q

What is the function of HP1 proteins?

A

HP1 binds to methylated histones

43
Q

What is the function of a boundary element?

A

to impede the spread of histone methylation

44
Q

What are boundary elements also known as?

A

chromatin barriers

45
Q

What are the functions of boundary elements?

A

separating active and inactive chromosomal regions

46
Q

What two biological processes are influenced by imprinting?

A

Development and maturation of gametes

47
Q

How does imprinting affect development?

A

cell-type differentiation

48
Q

What does imprinting do to DNA?

A

silences it

49
Q

When does imprinting take place?

A

gametogenesis

50
Q

Is the parent of origin re-written? When?

A

yes

during gametogenesis

51
Q

How does the XIST relate to imprinting?

A

XIST designates which x-chromosome is to be inactivated

52
Q

What happens to the XIST on the x-chromosome to be inactivated?

A

it is transcribed

53
Q

What is uniparental disomy?

A

when an individual only has maternally or paternally inherited homologues of a chromosome

54
Q

Beckwith-Wiedemann Syndrome arises from what type of chromosomal aberration?

A

uniparental disomy

55
Q

How does Beckwith-Wiedemann Syndrome arise?

A

inherit two paternal homologues of chromosome 11

56
Q

Beckwith-Wiedemann Syndrome features an abundance of what receptor?

A

insulin-like growth factor 2

57
Q

Prader-Willi and Anglemann syndrome both feature what kind of aberration on what chromosome?

A

deletions on chromosome 15

58
Q

If the deletion is on maternal chromosome 15, what disease arises?

A

Anglemann

59
Q

If the deletion is on paternal chromosome 15, what disease arises?

A

Prader-Willi

60
Q

During systemic lupus erythematosus, antibodies against what are created?

A

nuclear components

61
Q

What type of immune cells are involved in SLE?

A

T-cells

62
Q

HDAC inhibitors have proven useful in what diseases?

A

chronic lymphocytic leukemia

63
Q

What does 5-azacytidine inhibit?

A

DNMT1

64
Q

Inhibition of DNMT causes what to the genome?

A

hypomethylation

65
Q

5-azacytidine has been approved in the treatment of what disease?

A

acute myeloid leukemia

66
Q

What is the role of imprinting?

A

to mark a chromosome as either paternal or maternal in origin

67
Q

When does imprinting take place?

A

gametogenesis

68
Q

What two syndromes are caused by deletions on chromosome 15?

A

Anglemann and Prader-willi

69
Q

Deletion of paternal 15 = ?

A

Prader willi

70
Q

Deletion of maternal 15 = ?

A

Anglemann

71
Q

HDAC inhibitors are effective against?

A

chronic lymphocytic leukemia

72
Q

Name a DNMT inhibitor

A

5-azacytidine

73
Q

What does 5-azacytidine do?

A

cause hypomethylation of the genome

74
Q

What has 5-azacytidine been approved for the use of?

A

acute myeloid leukemia

75
Q

What is the XIST gene?

A

X-chromosome inactivating specific transcript

76
Q

Where is XIST located?

A

X-chromosome inactivating center (XIC)

77
Q

What causes Lupus?

A

epigenetic changes in T cells

78
Q

Regarding T-cell genome, what do SLE patients show?

A

global hypomethylation

79
Q

Treating patients with what kind of drugs causes SLE-like symptoms?

A

DNMT inhibitors (5-azacytidine)