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From Flashcardlet > Gene regulation/Molecular Biology > Flashcards

Gene regulation/Molecular Biology Flashcards

0
Q

BRCA1

  • Function in DNA repair?
  • Function @ telomere?
A

DNA repair: tumor suppressor protein

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1
Q

ATM

  • DNA repair function?
  • function @ telomere?
A

DNA repair: PI-3K related
Important for signal transduction in response to DNA damage

Fx @ telomere: important for apoptosis on loss of TRF-2 fx
ATM + ATR co-localize w/ telomere DNA in ALT cell lines

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2
Q

H2AX / gamma-H2AX

A

Histone protein that is phosporylated (to gamma-H2AX) in response to a DSB
Participates in recruitment of proteins that constitute the repair machinery
Phosphorylated H2AX occurs on DNA near dsb
Marker for dsb & used to monitor repair.

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3
Q

Transition,

Transversion

A 
Transition = substitution of one purine for another
Transversion = substitution of a purine for a pyrimidine (or vice versa)
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4
Q

What is a frameshift mutation, and what are the consequences?

A

Frameshift mutation = due to an insertion or deletion, causing an alteration in the reading frame.
This results in a non-functional or truncated protein.

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5
Q

What is a chromosomal translocation?

A

exchange of one part of a chromosome with a bsde sequence from a different chromosome

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6
Q

p53

  • Function in DNA repair?
  • Function at the telomere?
A

.Transcription factor & essential in a wide variety of respones to DNA damage

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7
Q

PARP

  • Function in DNA repair?
  • Function at the telomere?
A

.Important for recruiting DNA repair machinery to sites of DNA damage

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8
Q

KU 70/80

  • Function in DNA repair?
  • Function at the telomere?
A

.

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9
Q

DNA-PK

  • Function in DNA repair?
  • Function at the telomere?
A

.

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10
Q

MRE11

  • Function in DNA repair?
  • Function at the telomere?
A

.

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11
Q

RAD51

  • Function in DNA repair?
  • Function at the telomere?
A

.

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12
Q

RAD52

  • Function in DNA repair?
  • Function at the telomere?
A

.

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13
Q

WRN

  • Function in DNA repair?
  • Function at the telomere?
A

.

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14
Q

BLM

  • Function in DNA repair?
  • Function at the telomere?
A

.

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15
Q

Types of genetic mutations

A
  1. Point mutation
  2. Deletion
  3. Insertion
  4. Inversion
  5. Translocation
  6. Duplication
17
Q

Inherited (human) syndromes associated with sensitivity to X-rays

A
  1. Ataxia-telangiectasia (AT)
  2. Seckel syndrome
  3. Ataxia-telangiectasia-like disorder
  4. Nijmegen breakage syndrome
  5. Fanconi’s anemia
  6. Homologues of RecQ-Bloom syndrome, Wernder syndrome, & Rothmund-Thompson syndrome
18
Q

Examples of endogenous hypoxic markers

A
  1. CAIX (carbonic anhydrase 9)
  2. GLUT1
  3. GLUT3
19
Q

PI3K delta pathway controls what cell functions?

A
  1. Cellular growth
  2. Proliferation
  3. Cell survival
  4. Chemokine release
  5. Homing/trafficking

From Flashcardlet (43 decks)

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