DNA repair mechanisms Flashcards

1
Q

what are gene mutations classified into

A

Hereditary (germline mutations) and Acquired (or somatic) mutations

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2
Q

what are the DNA repair mechanisms

A
  • Proofreading (during replication)
  • Mismatch repair (during replication)
  • DNA damage repair mechanisms
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3
Q

what are the types of DNA damage repair mechanisms

A

i. Direct reversal
ii. Excision repair (base or nucleotide)
iii. Double-stranded break repair

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4
Q

what mammalian DNA polymerases are capable of DNA proofreading

A

delta and epsilon

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5
Q

give 7 differences between exonuclease and endonuclease

A
  • Endonuclease separates the nucleotides into two or more fragment, Exonuclease removes the nucleotides one by one from the fragment
  • Endo-nuclease cuts the nucleotide bases from the middle, exo from 5’ or 3’ end
  • endo doesnt req 5’ or 3’ end, exo does
  • endo- lag phase, exo- absent
  • endo- sequence specific, exo- not
  • endo- releases oligonucleotides, exo- nucleotides
  • endo- DNA repair, blocking pathogen entry, exo- repair, proofreading, stabilization, no pathogen blocking
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6
Q

when does mismatch repair happen

A

right after new DNA has been made

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7
Q

what is the general function of mismatch repair

A

remove and replace mis-paired bases (ones that were not fixed during proofreading)

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8
Q

what else can mismatch repair detect

A

detect and correct small insertions and deletions that happen when the polymerases “slips,” losing its footing on the template

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9
Q

how does mismatch repair work

A

1) protein complex recognizes and binds to the mispaired base
2) A second complex cuts the DNA near the mismatch, and more enzymes chop out the incorrect nucleotide and a surrounding patch of DNA
3) A DNA polymerase then replaces the missing section with correct nucleotides, and an enzyme called a DNA ligase seals the gap

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10
Q

how can original and newly made strands be told apart in bacteria

A

by a feature called methylation state (old DNA has methyl on some of its bases while new doesn’t)

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11
Q

what recognizes the wrong match and connects

A

MutS

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12
Q

what binds to MutS to form a complex

A

MutL

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13
Q

what does MutH do

A

recognizes the GATC sequence which is methylation

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14
Q

how do MutH and the MutS-L complex

A

by looping

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15
Q

what happens after MutS-L complex merges with MutH

A

DNA exonuclease cuts from the methylated GATC sequence to the wrong base

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16
Q

________________ resynthesizes and binds the DNA ligase nucleotides

A

DNA polymerase III

17
Q

how does O-6-methylguanine happens and how can it be repaired

A

addition of a methyl group to the structure of guanine by alkylating agents and can be reversed with enzymes

18
Q

what enzyme repairs O-6-methylguanine

A

O-6-methylguanine-DNA methyltransferase (MGMT)

19
Q

what is the major type of damage induced by UV light

A

formation of pyrimidine dimers

20
Q

how do pyrimidine dimers form

A

joined by the formation of a cyclobutane ring resulting from saturation of the double bonds between carbons 5 and 6

21
Q

what does formation of a pryrimidine dimer cause

A

distorts the structure of the DNA chain and blocks transcription or replication

22
Q

what is a mechanism of repairing UV-induced pyrimidine dimers and why

A

photoreactivation (photolyase) because energy derived from visible light is utilized to break the cyclobutane ring structure

23
Q

how do DNA photolyases work

A

DNA photolyase recognized kink in DNA and bind to site. when excited by Blue Light, photolyases change confirmation breaking a part dimer

24
Q

what species has photoreactivation repair and which doesnt

A

e.coli, yeast and some plants and animals.

humans lack this mechanism

25
what enzymes play a key role in base excision repair
glycosylases
26
what does deamination of cytosine cause and how is this problem fixed
converts a cytosine base into uracil, and pairing uracil with guanine the problem is fixed by DNA glycolyase which removes the base
27
what is nucleotide excision repair used for
corrects types of damage that distort the DNA double | helix and UV damage
28
how else does UV radiation affect DNA
can make cytosine and thymine bases react with neighboring bases that are also Cs or Ts, forming bonds that distort the double helix
29
what is the most common linkage fixed by Nucleotide excision repair
thymine dimer
30
what enzymes are used in Nucleotide excision repair
Excision endonuclease, OR UV-specific endonuclease
31
what does high energy radiation cause
doublestranded breaks in DNA (splitting a chromosome in two)
32
Two pathways involved in the repair of double-stranded DNA breaks are
Non-homologous end joining (NHEJ) | Homologous recombination pathways (HRP)
33
how does Non-homologous end joining (NHEJ work
two broken ends of the chromosome are simply glued back together by DNA ligase
34
why is Non-homologous end joining (NHEJ) unfavorable
This repair mechanism is “messy” and typically involves the loss, or sometimes addition, of a few nucleotides at the cut site but its better than the alternative
35
how does Homologous recombination work
Information from the homologous chromosome that matches the damaged one (or from a sister chromatid, if the DNA has been copied) is used to repair the break
36
Homologous recombination is “cleaner” than ______________ and does not usually cause mutations
non-homologous
37
what is Hereditary nonpolyposis colorectal cancer (Lynch syndrome)
by mutations in genes encoding certain mismatch repair proteins
38
what causes xeroderma pigmentosum
by mutations affecting the nucleotide excision repair pathway, thymine dimers and other forms of UV damage can't be repaired
39
what is Distichiasis
double eyelashes, is a rare condition where you have two rows of eyelashes