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Genetics > Chap 6- Epigenetics > Flashcards

Chap 6- Epigenetics Flashcards

1
Q

stages of gene expression

A
  • chromatin accessibility
  • transcription
  • RNA processing
  • RNA stability
  • translation
  • protein activity
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2
Q

cis-acting regulatory DNA

A
  • DNA sequence near structural portion of a gene
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3
Q

trans-acting gene regulator

A
  • protein that binds to cis-acting sequences to control gene expression
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4
Q

what is the consequence of a mutation in cis-acting regulatory sequence?

A

mutation in one or a few neighboring genes

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5
Q

what is the consequence of a mutation in trans-acting gene regulators?

A

can lead to mutations in multiple genes, proteins are mobile so they can effect genes anywhere

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6
Q

promoter

A
  • short DNA sequence
  • where transcription starts
  • Cis-acting
  • can be activated or inactivated
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7
Q

transcription factor (TF)

A
  • sequence-specific DNA binding protein that regulates protein production
  • general or specific types
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8
Q

general TF

A

proteins that are necessary for transcription of all genes

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9
Q

specific TF

A

proteins that regulate transcription of an individual gene

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10
Q

Enhancer region

A

sites for TF that promote gene transcription

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11
Q

activator

A
  • TF that makes gene to be transcribed

- bind to enhancer region

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12
Q

silencer region

A

sites for TF that block gene transcription

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13
Q

repressor

A

binds to silencer region and decreases rate of transcription

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14
Q

RNA editing

A

alteration of sequence of AA in RNA after it has been transcribed

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15
Q

why is RNA editing important?

A
  • generates RNA and protein diversity

- changes in gene expression level

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16
Q

miRNA

A
  • small ncRNA

- mediate post-transcriptional gene expression by degrading mRNA or blocking translation

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17
Q

epigenetics

A

change in inherited gene expression without alteration in DNA sequence

18
Q

types of epigenetic events

A
  • chromatin structure modifications
  • DNA methylation
  • Histone modification
  • ncRNA
  • genetic imprinting
19
Q

epigenetic marks

A
  • DNA methylation and histone modification

- not directly dictated by genetic code

20
Q

DNA methylation

A
  • covalent modification
  • transcription is suppressed
  • mediated by DNMT
  • occurs in CpG islands
  • SAM is methyl donor
21
Q

DNA methylation in early development

A
  • once sperm fertilizes egg, methylation process is erased, established, and maintained
  • methylation widespread in somatic cells
22
Q

histone deacetylation

A
  • causes nucleosome to tightly pack -> genes not expressed

- done by HDAC

23
Q

Histone acetylation

A
  • causes loose packing of nucleosomes -> genes expressed

- done by HAT

24
Q

what is ncRNA’s role in epigenetics?

A
  • recruit specific chromatin-modifying protein complexes
  • leads to gene silencing
  • x-chromosome inactivation and genomic imprinting
25
what is genomic imprinting?
- parent-dependent epigenetic marking - one copy of a gene is silenced - happens through DNA methylation during egg or sperm formation - reversible and can be passed to generations
26
what are the 3 stages of imprinting?
erase, establishment, maintenance
27
epigenome
total collection of epigenetic changes in genome
28
epimutation
- abnormal epigenetic modification - can be inherited - most important in imprinted genes - either primary or secondary epimutation
29
primary epimutation
- from germline cells - present in all tissues - direct alteration of methylation
30
secondary epimutation
- somatic cells | - DNA alteration at imprinting center indirectly alters methylation pattern
31
what is MS?
- autoimmune disorder - causes myelin sheath to degrade - conduction of neural impulses impaired - more females effected than males
32
what is the effect of epigenetics on MS?
- epigenetic dysregulation of X chromosome - parent of origin effect - enviornmental factors can effect DNA mythlation, histone acetylation, and miRNA expression
33
what is asthma?
- chronic lung disease | - causes narrow. swollen, and mucus producing airways
34
what are the epigenetic mechanisms on asthma?
- DNA methylation - Histone modification - ncRNA dysregulation - exposure to air pollutants causes ROS production, prevents interaction between DNMT and DNA -> hypomethylated CpG sites
35
what is PAD?
- group of clinical problems caused by narrowing, occlusion, or aneurysm formation in peripheral arteries
36
what are the epigenetic changes associated with PAD?
- miRNA dysregulation - histone modifications - DNA methylation
37
what is the result of epigenetic changes with PAD?
- SMC apoptosis - SMC phenotype switch - Inflammation - ECM degradation - migration - angiogenesis
38
xeroderma pigmentosum
- autosomal recessive - NER ineffective- cannot repair damage due to UV dimers - t dimers remain and block replication - increased risk of skin cancers - appears early in life - severe sun burns in normal sunlight
39
severe combined immunodeficiency (SIDS)
- x- linked or autosomal recessive - does not have properly functioning T and B cells - cannot produce antibodies and have no adaptive immunity - due to problem in nonhomologous DNA end joining - interleukin production effected which is required for training of B and T cells
40
Hereditary non-polyposis colorectal cancer
- autosomal dominant - due to mismatch repair proteins (MMR) not functioning properly - causes DNA instability - dev multiple benign tumors (adenomas) at same rate as normal population but these are more likely to progress to cancer
41
bloom syndrome
- problem with helicase - causes defective DNA unwinding and repair - butterfly rash, high pitched voice, long and narrow face, small lower jaw, prominent nose and ears - sensitive to UV light - increased risk of dev cancer

Genetics (8 decks)

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