Chapter 3 Epigenetics and Disease Flashcards

(32 cards)

1
Q

What is Epigenetic

A

It is the study of gene expression and how phenotypes can be turned on (expressed) or turned off (not expressed) without DNA mutation or changes in the nucleotide sequence

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2
Q

DNA Methylation

A

Occurs through there attachment of a methyl group to a cytosine. Substantial DNA methylation essentially insulate the DNA. and silences the genes by blocking access to the DNA by the transcription factors

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3
Q

What is histone modification

A

The removal of an acetyl group from the histone protein which results in a change in structure of the protein

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4
Q

What can DNA methylation and histone hypoacetylation due to goether

A

Disrupt transcription of the gene and the production of the encoded protein

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5
Q

Noncoding RNAs

A

They sop up complementary RNAs and inhibit their function

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6
Q

Prader willi Syndromw Cuase

A

Deltion of base pairs on the long arm of a chromosome

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7
Q

Prader William signs and symptoms

A

Small hands and feet obesity intellectual disability and hypogonadism

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8
Q

Cause of Angelman syndrom

A

When the deletion is inherited from the mother occurs at the 4mb

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9
Q

Signs and symptoms of angel man syndrome

A

Sever intellectual disability seizures and ataxic gait

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10
Q

Beckwith-wiedemann syndrome

A

An overgrowth condition caused by the overactivity of IGF2 (Insulin like growth factor 2)

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11
Q

What is beckman wiedmann syndromee signs and symptoms

A

Large for gestation age hypoglycaemia at birth a large rouge creases on earlobe omphalocele and have increased risk for developing wills tumour or hpatoblastoma

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12
Q

Russell silver syndrome s&s

A

Delayed growth proprialnate short statur, leg length discrepancy and a small triangular face

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13
Q

Russell-silver syndrome

A

Down regulation of IGF 2

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14
Q

What are histones

A

Proteins that support DNA and organizes it in the nucleus of the cell, also proteins that DNA wraps around

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15
Q

What is transcription

A

Process of making mRNA from a section of DNA

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16
Q

What is a Chromatin

A

Proteins and DNA in the nucleus

17
Q

What is a gene

A

Section of DNA that carries the code for a protein or non-coding RNA

18
Q

True or false epigenetic modifications are maintained in successive miotic cell divisions

19
Q

What is Genomic imprinting

A

When with the maternal or paternal copy of genes is inherited through the sperm or inherited through the egg remains in an inactive state in all of the somatic cells of the individual

20
Q

What is MiRNA

A

MicroRNAs carries the code for protein into ribosomes they can be both general and specific enough to bind with other regions of mRNA pairs
Affects the translation of messenger RNAs by binding to mRNA sequences and they impair ribosomal function

21
Q

T or F Epigenetic modifications are reversible

22
Q

Which people group are studied for epigenetic modification

23
Q

Abnormal methylation of tumour suppressor genes may be a factor in ,,, of specific types of cancer

24
Q

What is chromatin

A

The combination of proteins and their associated DNA

25
What is a histone
Proteins which wraps around DNA
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What is histone acetlyase
Adding a acetyl group to histone tails
27
What is deacetylase
Remove acetyl groups from histone tails
28
What is DNA methyltransferases
Attache methyl groups to nucleotides in DNA
29
When histone deactylsse removes the acetyl group from a histone what affect does it have on transcription
Transcription is less likely to occur because DNA stays tightly wrapped around histone and transcription factors cannot reach the promotor regions of the genes to initiate transcription
30
When excessive methylation occurs what effect does that have on gene transcription
Gene transcription does not happen because transcription factors are not able to bind to the hypermehtylated promotor regions of the genes
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What are housekeeping genes
Genes that are necessary to maintain function of all types of cells and normally remain transcriptionally active