MLSBIO101 GENETIC IMPRINTING Flashcards

1
Q

What do you call the modifications to DNA that retain sequence fidelity yet alter gene expression? It is also known as “On genes”

A

Epigenetics

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2
Q

What is the other term for epigenetics?

A

On Genes

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3
Q

What is the gamete-specific differential modification?

A

Imprinting

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4
Q

What is unique to placental mammal, marsupial, and flowering plants?

A

Imprinting

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5
Q

What is typically marked with DNA methylation?

A

Imprinting

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6
Q

Imprinting is typically marked with what?

A

DNA Methylation

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7
Q

What often occurs in clusters?

A

Imprinting

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8
Q

In imprinting, what happens to the genes?

A

Silenced

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9
Q

What is the set of epigenetic modifications inherited in descendant cells?

A

Epigenetic Memory

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10
Q

What are the two broad categories of inheritance?

A
  1. Mendelian
  2. Non-mendelian
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11
Q

What law states that each parent contributes a single gamete containing single alleles from either maternal or parental chromosomes?

A

Law of Segregation

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12
Q

T/F. Each chromosome in an egg cell has a maternal imprint.

A

True

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13
Q

T/F. Imprinting is established in gametes

A

True

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14
Q

T/F. Each chromosome in a sperm cell has a paternal imprint.

A

True

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15
Q

T/F. Imprinting is maintained during embryogenesis.

A

True

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16
Q

On what occurrence is imprinting maintained?

A

Embryogenesis

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17
Q

What is the wide epigenetic reprogramming?

A

Genome

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18
Q

T/F. Imprinting is maintained in adult somatic tissues

A

True

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19
Q

In adults, where is imprinting maintained?

A

Somatic Tissues

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20
Q

T/F. Imprinting erased and modified based on sex.

A

True

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21
Q

On what characteristic is imprinting erased and modified?

A

Sex

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22
Q

What is crucial for normal development?

A

Imprinted Genes

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23
Q

What bypasses the epigenetic reprogramming?

A

Imprinted Genes

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24
Q

What is vulnerable to epigenetic copying machinery?

A

Imprinted Gene

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25
What are the roles of Imprinted genes?
1. Growth 2. Behavior 3. Stem Cells 4. Disease
26
What is involved in placental development, enhance growth, and large offspring?
Paternal Expression
27
What is involved in suppressing growth, limits expression of paternal genes, and small offspring?
Maternal Expression
28
A large offspring benefits what?
Father
29
A small offspring benefits what?
Mother
30
What are the three things needed in DNA Methylation?
1. CpG (Cytosine-phosphate-guanine) 2. DNMT (DNA Methyltransferase) 3. 5'methyl-cytosine
31
What can easily be deaminated to form thymine?
5'Methyl-cytosine
32
What happens when methylating the cytosine of a CpG motif?
Silences Genes
33
What happens when Cytosine + DNMT?
5'Methyl-cytosine
34
In DNA Methylation, what do you call the regions with high concentrations of CpG motifs?
CpG Islands
35
T/F. CpG Islands are located in the promoter regions.
True
36
How much percentage of human promoter regions contain CpG islands?
70%
37
What is ICR?
Imprinting Control Regions
38
What is DMR?
Differentially Methylated Regions
39
T/F. ICR and DMR are cis-acting.
True
40
T/F. ICR and DMR control gene clusters ~3.0 Mb away.
True
41
T/F. The deletion of ICR leads to loss of imprinting.
True
42
T/F. When the promoter is unmethylated, the gene can be transcribed.
True
43
T/F. When the promoter is methylated, the gene is silenced.
True
44
In DNA Methylation, What facilitates imprinting in gametes?
DNMT3
45
In DNA Methylation, What maintains methylation states post-embryogenesis?
DNMT1
46
T/F. 98% of genome 1 CpG/100 base pairs are methylated.
True
47
T/F. <2% of genome 1 CpG/10 base pairs are unmethylated
True
48
On rare occasions, how does genetic imprinting modify histones?
Acetylation/Methylation
49
In histone modification, what generally leads to increased expression?
Acetylation
50
In Histone Modification, What generally leads to decreased expression?
Methylation
51
Acetylation generally leads to ____ expression
Increase
52
Methylation generally leads to ___ expression
Decreased
53
Regions of ____ are contained in imprinted genes.
ncRNAs
54
What proteins are coding genes in cis?
Repress Flanking Proteins
55
What is the zinc finger protein?
CTCF-11
56
What protein binds imprinting control element?
CTCF 11
57
What protein prevents methylation of ICE and H19?
CTCF-11
58
What is Ins2?
Insulin 2
59
What is the negative regulator of growth and proliferation?
H19
60
T/F. In "Random" X-chromosome inactivation, it is cell to cell basis and is actually regulated by several cis-elements.
True
61
What is Xist?
X-inactive Specific Transcript
62
What encodes Inc-RNA?
Xist
63
What is Tsix?
Antisense to Xist
64
What is the negative regulator of Xist?
Tsix
65
The Xist IncRNA can act as a?
Cis-coating Chromosome
66
What can silence a coated chromosome?
Histone Modification
67
T/F. DNA Methylation steps are identical to imprinting
True
68
Methylation is maintained in the ___ and lost in ___
Maintained in Placenta and Lost in Embryonic Tissue
69
What undergoes rapid de-methylation?
Paternal Genome
70
What undergo slow de-methylation?
Maternal Genome
71
What escapes methylome reprogramming?
Imprinted Genes
72
What is the name of the disease that exhibits this symptoms: - Occurs in 1 to 20,000 births - Severe mental retardation - Lack of speech - Ataxic gait - Unnaturally happy disposition (Random bouts of laughter) - Hand flapping
Angelman Syndrome (AS)
73
What is the name of the disease that exhibits these symptoms: - Occurs in 1 to 25,000 births - Mild mental retardation - Chronic Hunger (Leads to Obesity) - Stunted Height
Prader-Willi Syndrome (PWS)
74
What disease is the most common syndromal cause of human obesity>
Prader-Willi Syndrome (PWS)
75
What chromosome is affected in AS and PWS?
Chromosome 15
76
In AS and PWS, chromosome 15 loses imprinting in ___
15q11-13
77
Is AS maternal or paternal?
Maternal
78
Is PWS maternal or paternal?
Paternal
79
What is the name of the disease that exhibits these symptoms: - Microcephaly (Small head) - Macroglossia (Enlarged tongue) - Visceromegaly (Enlarged organs) - Macrosomia (Large body size) - Umbilical Hernia
Beckwith-Wiedemann Syndrome
80
In Beckwith-Wiedemann Syndrome, the chromosome has loss of imprinting on region?
11p15.5
81
What is the other name for embryonic kidney cancer?
Wilm's Tumor
82
What is the name of the disease that exhibits these symptoms: - Loss of imprinting control on H19 - Hypermethylation of imprinting control region - Overexpression of IGF2
Wilm's Tumor
83
What disease exhibits these symptoms: - Loss of imprinting on H19 - Hypomethylation of imprinting control region - Overexpression of IGF2
Bladder Cancer
84
In detection of imprinted genes, what do you call when cytosine is converted to uracil and this methylated cytosine is unaffected?
Bisulfite sequencing
85
T/F. Sequencing after treatment should reveal no bands in lane C.
True
86
What does the bands in lance C represent?
Methylated Cytosines
87
What is the Dutch period of starvation during WWII?
Hongerwinter 1944
88
T/F. In Hongerwinter 1944, children that were born were short, and diagnosed with anemia, edema, diabetes, and depression.
True
89
T/F. In Hongerwinter 1944, the women who were born of this era were shown to have children that mimicked the same symptoms as their mothers.
True
90
In Hongerwinter 1944, Hypomethylation of ___ six decades later.
IGF2