DNA Damage/Repair Flashcards

1
Q

mutations: definition

A

permanent changes in the sequence of bases (genetic information)

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2
Q

4 consequences of mutations

A

changed amino acid sequence = change in function of cellular protein. cell death/apoptosis. failure of embryonic development. cancer

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3
Q

replication is carried out by? fidelity?

A

DNA polymerases: very high fidelity but not perfect

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4
Q

error rate of DNA polymerase

A

1 mistake per million to 100 million nucleotides

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5
Q

spontaneous depurination

A

purines = A or G, hydrolysis of bond joining base to sugar ring

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6
Q

cancer: mutation in what gene?

A

mutation that alters the function of a proto-oncogene

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7
Q

oncogenes code proteins with a role in? (2)

A

apoptosis aka natural ell death pathway. regulation of cell cycle or growth pathways

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8
Q

how does a proto oncogene become an oncogene?

A

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

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9
Q

3 types of repair mechanisms

A

mismatch repair. base excision repair. nucleotides excision repaire

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10
Q

what does mismatch repair do

A

repairs mismatches in replicated DNA not caught in proof reading

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11
Q

base excision repair

A

repairs abnormal bases

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12
Q

nucleotide excision repair

A

repairs pyrimidine dimers, like thymine dimers from UV radiation

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13
Q

xeroderma pigmentosum

A

heriditary defect of DNA repair enzymes = extreme sensitivity to sunlight

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