TBL 4

Question 1

What is the study of gene regulatory mechanisms which do not directly involve the DNA sequence?

Answer 1

Epigenetics

Question 2

The effect of methylation in CpG islands on gene regulation is usually:

Answer 2

Silencing

Question 3

The five epigenetic mechanisms are:

Answer 3

DNA methylation
Histone modification
ATP-Dependent chromatin remodeling
Histone variants
Noncoding RNA

Question 4

The effect of histone acetylation on DNA regulation is usually:

Answer 4

Activation

Question 5

DNA methylation is regulated by enzymes called:

Answer 5

DNA methyltransferases

Question 6

DNA methylation has ___ symmetry

Answer 6

dyad

Question 7

Following replication, methylations are copied onto the new DNA strand by:

Answer 7

maintenance methyltransferase

Question 8

In a spontaneous mutation from C to U, what repair mechanism replaces the U in DNA?

Answer 8

Base Excision Repair

Question 9

What are the two most common mutations at CpG’s?

Answer 9

C to T

G to A

Question 10

Deamination of 5’-methyl-cytosine leads to:

Answer 10

Thymine

Question 11

What gene is mutated in Rett Syndrome?

Answer 11

MeCP2

Question 12

One example of a DNA Methyltransferase used in transcriptional repression is:

Answer 12

DNMT1

Question 13

One example of a methyl-binding domain protein used for transcriptional repression is:

Answer 13

MeCP2

Question 14

What is the mechanism in which only certain genes from the allele found on a chromosome from a specific parent is:

Answer 14

Genomic imprinting

Question 15

Which allele is imprinted, the on that is turned off or left on?

Answer 15

Turned off (methylated)

Question 16

If a mutant gene is on the imprinted allele, will the disease be expressed?

Answer 16

No

Question 17

What is the disease which causes slow growin, mostly benign tumors of the parasympathetic ganglia, usually in the head/neck?

Answer 17

AD Paraganglioma (Glomus Tumors)

Question 18

Which parent is AD paragangioma inherited from? Why?

Answer 18

Father, maternally imprinted, paternally expressed

Question 19

Imprinted genes (and mutations in them) will result in a ___-of-origin effect

Answer 19

Parent

Question 20

Profound MR, happy demeanor, seizures, ataxia, and absent speech are symptoms of:

Answer 20

Angelman Syndrome

Question 21

Lack of maternal contribution of 15q11-13 is affiliated with:

Answer 21

Angelman Syndrome

Question 22

The UBE3A gene is associated with:

Answer 22

Angelman Syndrome

Question 23

Angelman Syndrome is associated wth the gene:

Answer 23

UBE3A

Question 24

Angelman syndrome is associated with a lack of paternal/maternal contribution to the ____ chromosomal region

Answer 24

Maternal, 15q11-13

Question 25

Hypotonia, failure to thrive, hyperphagia, obesity, hypopigmentation (variable), and mental retardation are symptoms of:

Answer 25

Prader-Willi Syndrome (PWS)

Question 26

Do patients of PWS have a normal karyotype?

Answer 26

Yes

Question 27

Prader-Willi Syndrome is associated with a lack of paternal/maternal contribution to the ____ chromosomal region

Answer 27

Paternal, 15q11-13

Question 28

Important genes in PWS include:

Answer 28

SNRPN and OCA2

Question 29

SNRPN is expressed from the ___ chromosome. What type of imprinting is this?

Answer 29

paternal, maternal imprinting

Question 30

UBE3A is expressed from the ___ chromosome. What type of imprinting is this?

Answer 30

maternal, paternal imprinting

Question 31

What has to occur to result in uniparental disomy?

Answer 31

Meiotic and mitotic nondisjunction resulting in trisomy rescue and a 1/3 chance of UD

Question 32

Heterodisomy must have occurred in:

Answer 32

Meiosis 1

Question 33

Isodisomy must have occurred in:

Answer 33

Meiosis 2