Mutation and Repair of DNA Flashcards

1
Q

substitution

A

changes from a single base pair to another

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2
Q

indel mutation

A

deletion or insertion of one or several base pairs

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3
Q

tautomeric shifts

A

A;C base paring in rare imino form
G;T base pairing in rare enol form
movement of H atoms

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4
Q

transitition

A

pyrimidine-pyrimidine or purine-purine

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5
Q

transversion

A

pyrimidine-purine or vice versa

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6
Q

silent mutation

A

no change in amino acid

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7
Q

neutral mutations

A

function is not affected - change to similar a.a

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8
Q

mis-sense mutation

A

results in different a.a

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9
Q

non-sense mutation

A

results in a stop codon

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10
Q

open reading frame (ORF)

A

nucleotides flanked by a start codon and one of the stop codons

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11
Q

frameshift

A

insertion or deletion of 1 or 2 base pairs alters the reading frame of the gene distal to the site of mutation

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12
Q

factors influencing spontaneous mutations

A

accuracy of DNA replication machinery
efficiency of mechanisms
degree of exposure to mutagenic agents

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13
Q

UV light

A

excites nucleotides

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14
Q

X-rays

A

ionization

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15
Q

Ionizing radiation

A

breaks chromosomes

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16
Q

UV irradiation

A

hydrolysis of cytosine to cytosine hydrate (causes mis-pairing)
cross-linking of thymine to form thymine dimers (blocks DNA replication)

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17
Q

Chemical mutagens

A
alkylating agents 
5-bromouracil
proflavin
nitrous acid 
hydroxylating agent
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18
Q

alkylating agents

A

mustard gas, ethyl methane sulfonate, ethyel ethan sulfonate
donate alkyl group - error prone DNA repair process

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19
Q

5BU

A

substitute for base

20
Q

acridine dyes

A

frameshift mutations
carry (+) charges
alter rigidity and spacing of the DNA double helix
causes insertion or deletion of 1 or more nucleotides in replicated DNA

21
Q

nitrous acid

A

de-amination of bases
sodium nitrate (NaNO3) converted to nitrous acid (HNO2) in the stomach
C to U mutation

22
Q

germinal mutation

A

in germ-lone cells will be transmitted through gametes to the offspring

23
Q

somatic mutation

A

in somatic cells will only be observed in descendants of that cell and will not be transmitted to the next generation

24
Q

spontaneous mutation

A

without a known cause due to errors in the metabolic pathway or unknown agents in the env.

25
Q

induced mutation

A

exposure of an organism to a mutagen

26
Q

forward mutation

A

wild-type allele to mutant allele

27
Q

reverse mutation

A

restores original phenotype

28
Q

back mutation

A

2nd mutation at same site of 1st

29
Q

suppressor mutation

A

2nd mutation and different site that reverts the changes phenotype due to the 1st mutation

30
Q

suppressor tRNA

A

recognize a different codon in the mRNA but still provide the same a.a of the original tRNA - amber

31
Q

iso-alleles

A

no or minor effects on the phenotype

32
Q

null alleles

A

results in no gene product or gene products are non-functional

33
Q

recessicve lethal mutation

A

affect genes required for growth - lethal in homozygous state

34
Q

auxotrophs

A

unable to synthesize an essential nutrient - grow only when essential metabolites are supplemented

35
Q

temp-sensitive

A

grow at lower temps. but not at higher temps.

36
Q

suppresor-sensitive

A

viable only when a 2nd mutation is present

37
Q

DNA repair mechanisms in E. Coli

A
light-dependent repair
excision repair
mismatch repair 
post-replication repair
error-prone repair
38
Q

Photolyase

A

cleaves cross link in thymine dimers using energy derived from blue light

39
Q

DNA repair endonuclease

A

recognizes, binds to, excises damaged bases

40
Q

DNA polymerase

A

fills in the gap

41
Q

DNA ligase

A

seals the break

42
Q

Base exicision repair

A

removes abnormal bases

43
Q

Nucleotide exicision repair

A

removes large defects

44
Q

Exonuclease

A

uvrA, uvrB, uvrC

45
Q

uvrB

A

bends DNA at thymine dimer

46
Q

uvrC

A

cleaves off 12 nucleotides flanking the thymine dimer