Epigenetics III: Imprinting Flashcards

(31 cards)

1
Q

Imprinted genes are expressed ____________, in a parental-origin-specific manner

A

Monoallelically

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2
Q

What experiment was done to provide early evidence for imprinting in mammals?

A

Mouse embryos constructed by pronuclear transfer

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3
Q

What were the results of the pronuclear transfer experiment?

A

Male and female pronuclei gave rise to normal, viable embryo
Only male pronuclei or only female pronuclei gave rise to abnormal, not viable embryo

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4
Q

What can be done to restore the viability of the embryo?

A

Turning on both maternally or paternally silenced genes

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5
Q

Where are imprinted genes typically found?

A

In large clusters

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6
Q

What controls imprinted gene clusters?

A

Imprinting control region (ICR)

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7
Q

What is the consequence of deleting the ICR on the paternal allele?

A

Disruption of the expression pattern for the entire cluster

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8
Q

In which embryonic stage are there high levels of expression of imprinted genes?

A

Prenatal stage

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9
Q

What are the functions of imprinted genes?

A

Growth and metabolism, neurological development, development of the placenta

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10
Q

True or false: Imprinting is disrupted in cancer cells

A

True

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11
Q

Which hypothesis states that imprinted genes reflect competition between males for limited female resources?

A

Parental conflict hypothesis

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12
Q

If a single female mates with multiple males, what are the intentions of the males and females for their offspring?

A

Males want to ensure that their offspring outcompete the others
Females want to ensure that all their offspring receive resources

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13
Q

ICRs are CpG islands that are differentially methylated between the __________ allele and _________ allele

A

Paternal; maternal

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14
Q

Which DNA methyltransferases establish imprinting genes?

A

DNMT3A in the germline and DNMT1 for maintenance

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15
Q

When do imprinted genes get erased?

A

During germ cell migration to the developing gonads

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16
Q

What are the two stages in which DNA methylation is removed?

A

Early embryo and germ cell development

17
Q

Imprinting establishment occurs during germ cell development after ____________ erasure of DNA methylation

18
Q

What are the two types of imprinting mechanisms involving DNA methylation?

A

Maternally methylated DMRs and ICRs are located at promoters and block promoter function
Paternally methylated DMRs and ICRs are located between genes and affect enhancer function

19
Q

Igf2 is expressed from the (paternal/maternal) allele, while H19 is expressed from the (paternal/maternal) allele

A

Paternal; maternal

20
Q

When do Igf2 knockouts have reduced size at birth?

A

If they get the knockout allele from the father

21
Q

The ICR region between heterologous ____________ and promoter that prevent ___________ activity is called an insulator

22
Q

What is the mechanism of the methylation of ICR with the binding of CTCF?

A

When ICR is unmethylated, CTCF can bind to insulator and H19 is expressed; Igf2 is blocked (maternally)
Methylation of ICR blocks CTCF binding to insulator and Igf2 is expressed; H19 is blocked (paternally)

23
Q

Maternal-specific methylation typically silences __________ of long non-coding RNAs located __________ protein-conding genes

A

Promoters; inside

24
Q

IncRNA is transcribed (sense/antisense) to Igf2r and Kcnq1

25
How does IncRNA transcription lead to silencing within the imprinted domain?
Antisense transcription interferes with sense transcription The RNA itself recruits chromatin modification enzymes to silence transcription
26
Associate the following to either oocyte DNAme pattern or sperm DNAme pattern a. Present in most/all gene bodies b. Present in intergenic regions c. Specific enrichment in the bodies of genes transcribed
a. Sperm b. Sperm c. Oocyte
27
How is imprinted methylation maintained?
Factors that bind to ICRs and H3K9 methylation
28
How does Zfp57 contribute to imprinting maintenance?
Binds to methylated sequence at ICRs and recruits H3K9 methyltransferase SETDB1
29
Which syndromes are caused by deletion of the entire imprinted domain on chromosome 15?
Prader-Willi and Angelman syndromes
30
AS is caused by (paternal/maternal) transmission of the deletion and PWS is caused by (paternal/maternal) transmission
Maternal; paternal
31
What causes Beckwith-Wiedemann Syndrome?
Loss of imprinting at KNCQ1 and IGF2 loci