Chap 6- Epigenetics Flashcards

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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
Q

what is genomic imprinting?

A
  • 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
Q

what are the 3 stages of imprinting?

A

erase, establishment, maintenance

27
Q

epigenome

A

total collection of epigenetic changes in genome

28
Q

epimutation

A
  • abnormal epigenetic modification
  • can be inherited
  • most important in imprinted genes
  • either primary or secondary epimutation
29
Q

primary epimutation

A
  • from germline cells
  • present in all tissues
  • direct alteration of methylation
30
Q

secondary epimutation

A
  • somatic cells

- DNA alteration at imprinting center indirectly alters methylation pattern

31
Q

what is MS?

A
  • autoimmune disorder
  • causes myelin sheath to degrade
  • conduction of neural impulses impaired
  • more females effected than males
32
Q

what is the effect of epigenetics on MS?

A
  • epigenetic dysregulation of X chromosome
  • parent of origin effect
  • enviornmental factors can effect DNA mythlation, histone acetylation, and miRNA expression
33
Q

what is asthma?

A
  • chronic lung disease

- causes narrow. swollen, and mucus producing airways

34
Q

what are the epigenetic mechanisms on asthma?

A
  • DNA methylation
  • Histone modification
  • ncRNA dysregulation
  • exposure to air pollutants causes ROS production, prevents interaction between DNMT and DNA -> hypomethylated CpG sites
35
Q

what is PAD?

A
  • group of clinical problems caused by narrowing, occlusion, or aneurysm formation in peripheral arteries
36
Q

what are the epigenetic changes associated with PAD?

A
  • miRNA dysregulation
  • histone modifications
  • DNA methylation
37
Q

what is the result of epigenetic changes with PAD?

A
  • SMC apoptosis
  • SMC phenotype switch
  • Inflammation
  • ECM degradation
  • migration
  • angiogenesis
38
Q

xeroderma pigmentosum

A
  • 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
Q

severe combined immunodeficiency (SIDS)

A
  • 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
Q

Hereditary non-polyposis colorectal cancer

A
  • 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
Q

bloom syndrome

A
  • 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