DNA Damage/Repair Flashcards
mutations: definition
permanent changes in the sequence of bases (genetic information)
4 consequences of mutations
changed amino acid sequence = change in function of cellular protein. cell death/apoptosis. failure of embryonic development. cancer
replication is carried out by? fidelity?
DNA polymerases: very high fidelity but not perfect
error rate of DNA polymerase
1 mistake per million to 100 million nucleotides
spontaneous depurination
purines = A or G, hydrolysis of bond joining base to sugar ring
cancer: mutation in what gene?
mutation that alters the function of a proto-oncogene
oncogenes code proteins with a role in? (2)
apoptosis aka natural ell death pathway. regulation of cell cycle or growth pathways
how does a proto oncogene become an oncogene?
direct mutation that affects protein function. mutation that causes increased stability of mRNA for a protein or gene duplication = protein over expression. chromosomal translocation that increases expression of a protein
3 types of repair mechanisms
mismatch repair. base excision repair. nucleotides excision repaire
what does mismatch repair do
repairs mismatches in replicated DNA not caught in proof reading
base excision repair
repairs abnormal bases
nucleotide excision repair
repairs pyrimidine dimers, like thymine dimers from UV radiation
xeroderma pigmentosum
heriditary defect of DNA repair enzymes = extreme sensitivity to sunlight