Functions and dysfunction of genomic regulation Flashcards

1
Q

why are mitotic chromosomes more condensed compared to interphase chormosomes?

A

To prevent physical damage to the DNA as chromosomes are separated and passed on to daughter cells

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2
Q

what are 20% of histone amino acid residues

A

lysine (lys) or arginine (Arg)

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3
Q

what residues in histone proteins are the target of post translational modifications?

A

lysine residues

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4
Q

what are two classes of proteins that bind to DNA?

A

1) histone proteins

2) non histone chromosomal proteins (TFs)

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5
Q

what are chromosome puffs?

A

unwound sections of DNA that are active in gene expressions

  • ex of how steroid hormones work in body
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6
Q

euchromatin

A
  • Lightly packed form of chromatin- (DNA, RNA and protein)
  • Often (but not always) under active transcription
  • Most active portion of the genome
  • Approximately 92% of the human genome is euchromatic.
  • Remainder is called heterochromatin
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7
Q

heterochromatin

A

-Heterochromatin is very condensed chromatin:
Stains darkly throughout the cell cycle, even in interphase
-Thought to be late replicating and genetically inactive

  • Highly concentrated at centromeres and telomeres
  • Contains very few active genes:
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8
Q

Position Effect:

A

-Activity a gene depends on relative position on
chromosome:
- Actively expressed genes will be silenced if relocated near heterochromatin

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9
Q

how many chromosomes does human genome have

A

46

2 copies of 23

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10
Q

how much of genome is responsible for coding

A

1.5 %

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11
Q

what do CGH arrays do?

A
  • detect copy number variations
  • used clinically to detect deletion of genes
  • variations are basis for differences and disease states
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12
Q

RNAi

A

-A biological process in which RNA molecules (miRNA)
inhibit gene expression, or translation
- Neutralizes targeted mRNA molecules

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13
Q

Long terminal repeats (LTRs)

A

-Identical sequences of DNA
- Repeat hundreds or thousands of times
- Found at either end of retrotransposons (proviral DNA)
- Formed by reverse transcription of retroviral RNA
- Used by viruses to insert their genetic material into the
host genomes

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14
Q

what sequence do introns begin and end with

A

begin with GT and end with AG

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15
Q

what does HDAC do?

A

represses gene expressions (chromatin is compressed)

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16
Q

what does HAT do?

A

promotes gene expressions (open)

17
Q

what enzyme is involved in methylation

A

methyl transferase

18
Q

what does dna methylation do?

A

represses gene transcription when at a gene promoter

-essential for normal development

19
Q

what does abnormal hypermethylation cause at promoter cPG islands?

A
  • transcriptional silencing

- can be inherited by daughter cells

20
Q

what does DNA polymerase require?

A

a primer with a free 3’-OH to begin processing

21
Q

DNA helicase

A

-unwinds DNA (using ATP)

22
Q

single stranded binding proteins

A

-binds to exposed ssDNA and stabilize and prevent hairpins

23
Q

topoisomerase (DNA gyrase in bacteria)

A

relieves overwound supercoils

  • breaks phosphodiester bond
  • target of anti-cancer agents
24
Q

UV radiation

A

causes covalent linkage with two adjacent pyrimidines

-pyrimidine dimers