DNA Repair Jigsaw

Question 1

MMR (what is it, key enzyme, specificity, disease)

Answer 1

no damage, just incorrect base
MSH2/6
Specificity
Endonucs
Heclicase+exonuclease
DNA Pol 3 + Ligase
Lynch syndrom

Question 2

BER (enzymes)

Answer 2

Glycosylase, AP endonuclease, deoxyribose phosphate lyase, DNA pol 1, DNA ligase)

Question 3

GGNER (proteins and disease)

Answer 3

XPC, XPE, UvRA (notice problem), XPA (assembly of complex), TFIIH (assembled complex), excinucleases, helices, DNA pol 1, ligase
nonneurological XP

Question 4

TCNER

Answer 4

RNA pol2, CSA/CSB (ubi), XP, TFIIH, CS

Question 5

Cockneye Syndrome

Answer 5

Mental problems, no increase in skin cancer, cell dies hen can trx, look old
infancy

Question 6

XP

Answer 6

2000x chance of skin cancer
or Neurologic effects
Nonneuro=XPC/XPE
Neuro-XPD/XPA/XPB/XPG/XPF (common pathway)
1-2 year onset

Question 7

SSB

Answer 7

Parp-1 (ssb rec), XRG=1 (scaffold), DNA pol B, ligase

Question 8

AOA1

Answer 8

Ataxia oculomotor apraxia

ataxia and oclulomotr apraxia
cognitive impairment
absence of increase in cancer
(redundency to repair SSB)

APTX protein proken-no 5’ end processor
-neurons-more oxidative stress, trx more, low regeneration

4 years old

Question 9

DSB why happen

Answer 9

ionizing radiation, topisomerase inhib, oxidizing agents

Question 10

NHEF

Answer 10

Ku binds to broken ends and aligngs
DNA PKsArtemis-depedent proteins kinase subunit(repairs frayed ends)
Helicase
Polymerase
Ligase
Lots of mistakes
AT proteins

Question 11

AT

Answer 11

Ataxia telangiesticia
small marks on skin-malignancy
Lymphoid tumors
ATM broken
childhood

Question 12

Homo recebom

Answer 12

Rad52 (mediates interactions), RAD51 Recombinase
Nucelase and helicase
Rad51 promote ATP necessarystrand invastion
ATM-slows down cell cycle

Question 13

ATM protein

Answer 13

slows down cell cycle for dab repair

Question 14

Depurination/Deamination

Answer 14

realse G or A

C to U

Question 15

ReqQ Helicase

Answer 15

Bloom syndrome, werners syndrome, baller-gerol syndrome

Question 16

helices use atp?

Answer 16

yes

Question 17

WRN

Answer 17

aka req Q helicase?
werner protein involed in werers syndrome
used for SSB/DSBR/OXIDATIVE/METHYL INDUCED DAMAGE
repairs damaged dna

Question 18

werners sudrome

Answer 18

auto rec
mutation in wrn gene
cancer (sarcomas)
aged appearance and age related orders
telomere shortening/rearragement
puberty

Question 19

MSIH vs MSIIH

Answer 19

1 vs more than 1 micro satellite instability