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Block 1 Week 7 > WK 7 GEN epigenetic > Flashcards

WK 7 GEN epigenetic Flashcards

1
Q

During gametogenesis enzymes are expressed that erase/remove all of the methylations on the DNA EXCEPT the (blank).

A

metabolic/environmental methylations.

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2
Q

In (blank), enzymes are expressed that methylate all chromosomes with the maternal genomic imprinting.

A

oogenesis

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3
Q

In (blank) , enzymes are expressed that methylate all chromosomes with the paternal genomic imprinting.

A

spermatogenesis

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4
Q

In the embryo/fetus, the maternal and paternal genomic imprinting is (blank) in all mitotic divisions. As the cells commit to differentiation, the DNA is methylated in a cell/tissue specific pattern that is faithfully copied in all subsequent cell divisions.

A

maintained

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5
Q

At implantation, one of each of the (blank) are methylated and inactivated, and this is faithfully copied in all subsequent daughter cells.

A

X chromosomes

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6
Q

What do you call heritable traits (changes in phenotype) that do not involve changes to the underlying DNA sequence (changes in genotype).

A

Epigenetics

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7
Q

What do you call something that is passed onto to daughter cells or from parent to offspring.

A

heritable

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8
Q

(blank) is during development of an embryo, cells become committed to a specific cell fate, which is maintained through all subsequent cell divisions.

A

cellular differentiation

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9
Q

Although all cells contain the entire genome, only a (blank) (10-20%) are expressed in any cell type.

A

subset of genes

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10
Q

(blank) is maintained by differential methylation of the DNA.

A

Cell fate

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11
Q

At (blank), the genomic DNA is largely demethylated; a new wave of methylation is then initiated that establishes the blueprint for the tissues of the developing embryo.

A

fertilization

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12
Q

Each cell has its own (blank) that must be carefully maintained in all subsequent cell divisions to regulate proper gene expression.

A

epigenetic pattern

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13
Q

is X-inactivation an epigenetic quality?

A

yes

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14
Q

What is this:
in females one X-chromosome in each somatic cell is inactivated (condensed to Barr body). Allows for gene dosage compensation between females (XX) and males (XY).

A

x-inactivation

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15
Q

X-inactivation is random and causes (blank).

How is it done?

A

mosaicism

DNA methylation, XIST RNA binding, chromatin remodeling

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16
Q

(blank) is epigenetic programming of metabolism during the pre-natal and neo-natal periods. In utero exposures (chemicals, diet) can affect the risk of development of chronic disease in later life.

A

metabolic imprinting

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17
Q

DNA methylation patterns fluctuate in response to prenatal exposures to ….

A

environmental chemicals or to changes in maternal diet.

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18
Q

Differential methylation causes (blank) of specific genes throughout development and into adult life (heritable).
This differential methylation pattern can then be transmitted to (blank).

A 
differential expression
future offspring (transgenerational inheritance).
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19
Q

(blank) is showing evidence that maternal and infant nutrition can influence (imprint/program) the development of (blank) such as diabetes, metabolic syndrome, atherosclerosis, hypertension, cancer, mental functions, and food allergy/intolerance.

A

endocrine dysfunctions

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20
Q

Epidemiological data indicate that there may even be (blank) of diet on the development of diabetes and heart disease: the nutritional status
of the grandparents appears to affect the risk of development of these disorders in their grandchildren.

A

transgenerational affects

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21
Q

DNA (blank) fluctuate in response to changes in diet (for example in response to folate supplementation/deficiency).

A

methylation patterns

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22
Q

In studies in the agouti yellow mouse (which are highly susceptible to the development of diabetes), there were clearly inherited affects of (blank) during pregnancy on the risk of development of diabetes in their offspring. A change in risk was also observed in the next generation (in the offspring of their offspring), and was due to inherited changes in the methylation status of the agouti gene.

A

maternal diet

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23
Q

What was fascinating and evidence of epigenetics in the geneticaly identical Avy mice?
These genetically identical, but epigenically different mice then had offspring that were exhibited what?

A

Difference in methylation patterns resulted in different obesities/diabetes and colors of the mice.
Same methylation pattern of their parents

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24
Q

DNA is not destiny. The stochasticity of mammalian development enables one genotype to result in a wide range of phenotypes.

… Early nutrition may influence this developmental plasticity to 	induce (blank) in humans, with worldwide 	implications for public health and nutrition policy.”
A

metabolic imprinting

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25
Q

(blank) is the idea that most genes on the autosomes are expressed from two alleles, one inherited from each parent. However, some genes (

A

genomic imprinting

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26
Q

For some imprinted genes only the maternal allele is expressed, while for others only the paternal allele is expressed.

A

genetic imprinting

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27
Q

(blank) are “stamped” with a memory of the parent from whom it came during gametogenesis.

A

Chromosomes

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28
Q

DNA methylation, regulatory RNA binding, chromatin remodeling are all parts of (blank).

A

genomic imprinting

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29
Q

In all somatic cells the paternal chromosome (inherited from the father) can be distinguished from the maternal chromosome (inherited from the mother) due to (blank)

A

differential markings.

30
Q

Marking (imprinting) occurs during (blank). It is initiated by differential methylation of specific sites (imprinting control regions; ICR) and maintained by regulatory RNA binding and chromatin remodeling. ICRs are methylated on only one of the two chromosomes.

A

gametogenesis

31
Q

In the developing haploid sperm the chromosomes are marked in a (blank) pattern; in the developing (blank) egg in a maternal pattern.

A

paternal

haploid

32
Q

The differential marking is maintained in all somatic cells throughout life, but is erased in the germline cells, then reestablished during (blank) .

A

gametogenesis

33
Q

(blank) can activate or inactivate a gene

A

Methylation

34
Q

Describe imprinting?

A

erased at gametogenesis, and remethylated during oogenesis or spermatogenesis

35
Q

Frequency: 1/14,000, equal numbers males and females; due to abnormal
transcription and regulation of genes in the imprinted domain on chromosome 11p15.5

A

Beckwith-Wiedmann Syndrome

36
Q

Frequency: 1/15,000, equal numbers males and females; due to abnormal
transcription and regulation of genes in the imprinted domain on chromosome 15q11-13

A

Prader-Willi syndrome

37
Q

Frequency: 1/15,000, equal numbers males and females; due to abnormal
transcription and regulation of genes in the imprinted domain on chromosome 15q11-13

A

Angelman syndrome

38
Q

genomic imprinting errors common in (blank) (mice)

A

clones

39
Q

increased prevalence of Angelman syndrome and Beckwith Wiedmann syndrom in pregnancies conceived by (blank)
(genomic imprinting errors, not new mutations)

A

IVF

40
Q

Frequency: 1/14,000, equal numbers males and females; due to abnormal
transcription and regulation of genes in the imprinted domain on chromosome 11p15.5

A

Beckwith-Wiedmann Syndrome

41
Q

Frequency: 1/15,000, equal numbers males and females; due to abnormal
transcription and regulation of genes in the imprinted domain on chromosome 15q11-13

A

Prader-Willi syndrome

42
Q

Frequency: 1/15,000, equal numbers males and females; due to abnormal
transcription and regulation of genes in the imprinted domain on chromosome 15q11-13

A

Angelman syndrome

43
Q

genomic imprinting errors common in (blank) (mice)

A

clones

44
Q

increased prevalence of Angelman syndrome and Beckwith Wiedmann syndrom in pregnancies conceived by (blank)
(genomic imprinting errors, not new mutations)

A

IVF

45
Q 
Disorder of growth characterized by large size for gestational age, 
      large tongue, abdominal wall defects, and predisposition to
      embryonic tumors (e.g. Wilms tumor, neurofibromas).
A

Beckwith-Wiedemann Syndrome

46
Q

Caused by two active copies of the IGF-2 gene (growth factor) and/or no active copy of CDKN1C (inhibitor of cell proliferation).

A

Beckwith-Wiedemann Syndrome

47
Q

What genes control fetal growth?

A

IGF-2, CDKN1C

48
Q

The IGF-2 gene is expressed only from the (blank) inherited chromosome.

A

paternally

49
Q

The CDKN1C gene is expressed only from the (blank) inherited chromosome.

A

maternally

50
Q

Imprinted gene domains on chromosome 11p15

is associated with what syndrome?

A

Beckwith-Wiedemann Syndrome

51
Q

50-60% of cases of (blank) are due to loss of methylation at DMR2 (from loss of methylation from mother)

A

BWS

52
Q

What do you call this
When you have 2 chromosomse from the same sex parent and none from the other sex parent due to nondisjunction. (only occurs in one of your chromosomes though)

A

uniparental disomy

53
Q

(blank) occurs when one chromosome is lost from a

trisomy (for many trisomies only way to produce viable offspring).

A

uniparental disomy

54
Q

(blank) is a genetic phenomenon in which a fertilizedovumcontaining three copies of achromosomeloses one of these chromosomes to form a normal, diploid chromosome complement.

A

trisomic rescue

55
Q

In Beckwith-Wiedemann Syndrome-elevated levels of IGF-2, decreased levels of CDKN1C can occur due to paternal uniparental disomy, why?

A

(so this occurs when you don’t inherit the mothers methylation patterns cuz you don’t get her chromosomes for this particular chromosome)

56
Q

Why would uniparental disomy create disease?

A

Because you inherit the methylation patterns from one parent and not the other, and you need methylation from both parents to have everything work right.

57
Q

IGF2 gene active only on the (blank) imprinted chromosome.

CDKN1C gene active only on the (blank) imprinted chromosome

A

paternally

maternally

58
Q

What disease is this:

short stature, hypotonia, small hands and feet, obesity, mild to moderate mental retardation, and hypogonadism.

A

Prader-Willi syndrome

59
Q

What disease is this:

severe mental retardation, seizures, and ataxic gait.

A

Angelman Syndrome

60
Q

What causes 70% of prader-willi and angelmon syndrome?

A

the same microdeletion on chromosome 15 (15q11-q13)

61
Q

What makes the difference between PWS and AS if you have the same microdeletion on the same chromosome?

A

PWS is inherited from father while AS is inherited from mother

62
Q

On the gene domain of chromosome 15q11-13 (PWS and AS) AS-SR) regulatory regions affects the PWS-SRO how?

A

it methylates and inactivates it

63
Q

The (blank) region has 5 genes; active only on the paternally derived chromosome.

A

PWS region

64
Q

The (blank) region has UBE3A; active only on the maternally derived chromosome

A

AS gene

65
Q

PWS/AS can also be caused by(blank) disomy.

A

uniparental

66
Q

Is PWS and AS autosomal dominant?

A

yes

67
Q

What does this describe
Two normal copies of the maternal chromosome 15 leads to PWS (normal PWS genes, but silent on both chromosomes).
Two normal copies of the paternal chromosome 15 leads to AS (normal AS genes, but silent on both chromosomes).

A

uniparental disomy in PWS/AS

68
Q

Is paternal non-disjuction more common or less common than female non-disjuction?
With this logic, will uniparental disomoy lead to more cases of PW or AS?

A

less common

PW

69
Q

Why can a mutation cause AS but it is highly unlikely for a mutation to cause PW?

A

Because AS has only one gene affected, while PW has 5 genes that would have to be mutated

70
Q

Can a methylation-sensitive restriction enzyme analysis test distinguish between PWS due to UPD and deletion of critical region?
How can you determine?

A

No

By FISH analysis or by haplotyping

71
Q

You cannot detect (blank) by standard karyotyping

A

microdeletions

Block 1 Week 7 (10 decks)

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