MLSBIO101 GENETIC IMPRINTING Flashcards
What do you call the modifications to DNA that retain sequence fidelity yet alter gene expression? It is also known as “On genes”
Epigenetics
What is the other term for epigenetics?
On Genes
What is the gamete-specific differential modification?
Imprinting
What is unique to placental mammal, marsupial, and flowering plants?
Imprinting
What is typically marked with DNA methylation?
Imprinting
Imprinting is typically marked with what?
DNA Methylation
What often occurs in clusters?
Imprinting
In imprinting, what happens to the genes?
Silenced
What is the set of epigenetic modifications inherited in descendant cells?
Epigenetic Memory
What are the two broad categories of inheritance?
- Mendelian
- Non-mendelian
What law states that each parent contributes a single gamete containing single alleles from either maternal or parental chromosomes?
Law of Segregation
T/F. Each chromosome in an egg cell has a maternal imprint.
True
T/F. Imprinting is established in gametes
True
T/F. Each chromosome in a sperm cell has a paternal imprint.
True
T/F. Imprinting is maintained during embryogenesis.
True
On what occurrence is imprinting maintained?
Embryogenesis
What is the wide epigenetic reprogramming?
Genome
T/F. Imprinting is maintained in adult somatic tissues
True
In adults, where is imprinting maintained?
Somatic Tissues
T/F. Imprinting erased and modified based on sex.
True
On what characteristic is imprinting erased and modified?
Sex
What is crucial for normal development?
Imprinted Genes
What bypasses the epigenetic reprogramming?
Imprinted Genes
What is vulnerable to epigenetic copying machinery?
Imprinted Gene
What are the roles of Imprinted genes?
- Growth
- Behavior
- Stem Cells
- Disease
What is involved in placental development, enhance growth, and large offspring?
Paternal Expression
What is involved in suppressing growth, limits expression of paternal genes, and small offspring?
Maternal Expression
A large offspring benefits what?
Father
A small offspring benefits what?
Mother
What are the three things needed in DNA Methylation?
- CpG (Cytosine-phosphate-guanine)
- DNMT (DNA Methyltransferase)
- 5’methyl-cytosine
What can easily be deaminated to form thymine?
5’Methyl-cytosine
What happens when methylating the cytosine of a CpG motif?
Silences Genes
What happens when Cytosine + DNMT?
5’Methyl-cytosine
In DNA Methylation, what do you call the regions with high concentrations of CpG motifs?
CpG Islands
T/F. CpG Islands are located in the promoter regions.
True
How much percentage of human promoter regions contain CpG islands?
70%
What is ICR?
Imprinting Control Regions
What is DMR?
Differentially Methylated Regions
T/F. ICR and DMR are cis-acting.
True
T/F. ICR and DMR control gene clusters ~3.0 Mb away.
True
T/F. The deletion of ICR leads to loss of imprinting.
True
T/F. When the promoter is unmethylated, the gene can be transcribed.
True
T/F. When the promoter is methylated, the gene is silenced.
True
In DNA Methylation, What facilitates imprinting in gametes?
DNMT3
In DNA Methylation, What maintains methylation states post-embryogenesis?
DNMT1
T/F. 98% of genome 1 CpG/100 base pairs are methylated.
True
T/F. <2% of genome 1 CpG/10 base pairs are unmethylated
True
On rare occasions, how does genetic imprinting modify histones?
Acetylation/Methylation
In histone modification, what generally leads to increased expression?
Acetylation
In Histone Modification, What generally leads to decreased expression?
Methylation
Acetylation generally leads to ____ expression
Increase
Methylation generally leads to ___ expression
Decreased
Regions of ____ are contained in imprinted genes.
ncRNAs
What proteins are coding genes in cis?
Repress Flanking Proteins
What is the zinc finger protein?
CTCF-11
What protein binds imprinting control element?
CTCF 11
What protein prevents methylation of ICE and H19?
CTCF-11
What is Ins2?
Insulin 2
What is the negative regulator of growth and proliferation?
H19
T/F. In “Random” X-chromosome inactivation, it is cell to cell basis and is actually regulated by several cis-elements.
True
What is Xist?
X-inactive Specific Transcript
What encodes Inc-RNA?
Xist
What is Tsix?
Antisense to Xist
What is the negative regulator of Xist?
Tsix
The Xist IncRNA can act as a?
Cis-coating Chromosome
What can silence a coated chromosome?
Histone Modification
T/F. DNA Methylation steps are identical to imprinting
True
Methylation is maintained in the ___ and lost in ___
Maintained in Placenta and Lost in Embryonic Tissue
What undergoes rapid de-methylation?
Paternal Genome
What undergo slow de-methylation?
Maternal Genome
What escapes methylome reprogramming?
Imprinted Genes
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)
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)
What disease is the most common syndromal cause of human obesity>
Prader-Willi Syndrome (PWS)
What chromosome is affected in AS and PWS?
Chromosome 15
In AS and PWS, chromosome 15 loses imprinting in ___
15q11-13
Is AS maternal or paternal?
Maternal
Is PWS maternal or paternal?
Paternal
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
In Beckwith-Wiedemann Syndrome, the chromosome has loss of imprinting on region?
11p15.5
What is the other name for embryonic kidney cancer?
Wilm’s Tumor
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
What disease exhibits these symptoms:
- Loss of imprinting on H19
- Hypomethylation of imprinting control region
- Overexpression of IGF2
Bladder Cancer
In detection of imprinted genes, what do you call when cytosine is converted to uracil and this methylated cytosine is unaffected?
Bisulfite sequencing
T/F. Sequencing after treatment should reveal no bands in lane C.
True
What does the bands in lance C represent?
Methylated Cytosines
What is the Dutch period of starvation during WWII?
Hongerwinter 1944
T/F. In Hongerwinter 1944, children that were born were short, and diagnosed with anemia, edema, diabetes, and depression.
True
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
In Hongerwinter 1944, Hypomethylation of ___ six decades later.
IGF2