MT Exams Flashcards
Tools involved in Short Patch BER
Pol Ξ² lyase, DNA Ligase III, XRCC1
XRN2
Exonuclease involved in RNA Pol II separation from template
Tools involved in Long Patch BER
Pol π, Ξ², Ξ΄, DNA Ligase I, PCNA
Tools involved in NER
XPC-HR23B
XPA, XPB, XPD
XPG, XPF-ERCC1
RPA
DNA Ligase III
Pol π, π
, πΏ
TLS Polymerase
Pol πΏ, PCNA, Pol N
Fanconi Anaemia genetic links
FANCD1
FANCQ
Rad51C
FANCN
FANCJ
FA Tools in Pathway
Convergence of replication forks,
FANCM,
FANCL (FANCD2 and FANCI)
FANCP (SLX4)
SNM1A
Pol Ξ
Driver Cyclin
D
Mitosis CDK
CDK1, Cyclin B
G1 to S Cyclin
E
Wee1
inhibitory kinase
CAK
activating kinase
Cdc25
activating phosphatase
INK, CIP
CDK inhibitory proteins
APC/C
MCC prevents chromosome separation by inhibiting APC/C ubiq. ligase function
MDM2
Ubiq ligase for p53. When damage P p53 it separates from MDM2 making it more stable
ATR pathway
ssDNA - Chk1 - Wee1 - inhibits CDKs
ATM pathway
dsDNA - Chk2 - inhibits Cdc25 - inhibits CDKs
SPRTN
enzyme required to repair DPCs by removing DPC at start of the replication fork
PRP40
Splicing factor
What P Serine 2
P-TEFΞ²
CDK12
What P Serine 5 and Serine 7
TFIIH
CDK7
Kinases which P dsDNA break in H2A.X modification
DNA-PK
ATM
SAM
Used to install DNA methyl groups on cytosine
How are unmodified CpGs protected from DNMT1
CXXC domain on DNMT1
- restricts access of catalytic domain
- occurs in promoter regions
TDG
Recognises site for demethylation and excises the base leaving an abasic site
Readers of DNA modifications
Unmethylated CpGs = CXXC and MBD1 domains
Methylated CpGs = MBD domain
DNMT3B DNA modifications in disease
ICF1
(immunodeficiency)
DNMT2A DNA modifications in disease
AML
MECP2 Reader - DNA modifications in disease
Rett syndrome
(neurological)
Function of ALK enzymes
Reverse effects of DNMT1
Tools required for MMR
MutS
MutL complex (MLH1, PMS2)
RPA
Exo1 and RFC
DNA Pol πΏ
DNA Ligase I
ORC6 mutation - DNA Replication Disorder
Meier Gorlin Syndrome
Van Esch OβDriscoll Mutation
Complete degradation of Pol A1
XLPDR Mutation
Pol A1 deficiency
DNA Pol E lesions in endonuclease
P286R
V411L
IMAGe Syndrome Mutation
Pol E pathogenic variant - CDKN1C/p57 (neg reg of cell prolif.)
MDP
Loss of Motif A in Pol D
Additional Firing Factors
GINS, CDC45
MCM10
With Hydrolysis converts inactive CMG into active CMG
Tools for Okazaki Fragment Processing
Pol πΏ, RNAse H, Fen1, DNA Ligase
Termination tools
Dia2, MCM7, p97, TopII
Sic1/p27
Binds to S-CDK activity and inactivates it
CTCF
binding factor that binds to insulators
important cofactor on cohesin rings