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Molecular Genetics > ccch 7 > Flashcards

ccch 7 Flashcards

1
Q

Mutation

A

changes in the nucleotide sequence of DNA

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2
Q

spontaneous mutation

A

natural, rep errors, reactive oxygen from metabolism

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3
Q

induced mutation

A

any chemical or physical agent that causes hella mutations

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4
Q

mutations importance

A
  1. genetic variation
  2. advantage consequences
  3. important tools for understanding genes
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5
Q

point mutations

A

single nucleotide alterations, (nucleotide substitution)

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6
Q

bigger mutations

A

trinuclotide repeats, insertions, deletions, chromo rearrangement

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7
Q

mutation hotspot

A

places that are more likely to mutate

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8
Q

transition mutation

A

pyrimidine/purine replace with like

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9
Q

transversion

A

purine replace with pyrimidine, or vise versa

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10
Q

post mutations become permanent if

A

its replicate into a DNA sequence (not repaired)

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11
Q

types of mutations

A

silent mutation, missense mutation, nonsense mutation

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12
Q

missense mutation

A

amino acid swapped for another

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13
Q

nonsense mutaiton

A

amino acid to stop codon

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14
Q

sickle cell is caused by

A

missense mutation, A to T (tranvsersion)

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15
Q

insertions and deletions

A

leads to adding/subtraction amino acids, frameshift

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16
Q

cystic fibrosis is caused by

A

deletion mutation, CFTR cannel mutation

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17
Q

frame shift

A

insertion or deletion causing the shift in a frame, usually harmful

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18
Q

RTH thyroid hormone sensitivity

A

caused by frameshift, goiter, abnormal psychology

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19
Q

mutation need to be in - to have an effect

A

gene coding region or area important to it, needs to not be silent

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20
Q

trinucelotide repeats, most common

A

CGG, CAG, GAA
usually make triple helix, neurological disorders

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21
Q

fragile x and Huntingtons is caused by

A

trinucleotide repeats

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22
Q

repeats caused by

A

unequal cross over, slipping during DNA replication

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23
Q

unequal crossing over

A

one is short and other is longer

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24
Q

slipping durring DNA rep

A

forms a slipped structure during replication

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25
Q

mutagen DNA damage

A

single base changes, structural distortion , DNA backbone damage

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26
Q

single base changes cause (what types of mutations)

A

single base conversion, alkylation, oxidation, minor effect of structure

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27
Q

deamination

A

mutagenic single base change, most frequent, hydrolytic, C to U is common

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28
Q

alkylation

A

adds methyl groups, nitrosamines
GC to AT

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29
Q

oxidation

A

gains oxygen bond, radiation
GC to TA

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30
Q

structural distortion

A

UV radiation causes Tymine dimers, creates backbone bulge and fucks everything up

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31
Q

DNA adduct (structural)

A

DNA binds to cancer causing things, structural distortion caused by intercalating agents and base analogs

32
Q

ethidium bromide (structural)

A

carcinogen, intercalating agent, insert bn DNA bases

33
Q

5 bromouracil (structural)

A

thymine analogue, mispair with guanine

34
Q

Formation of abasic site

A

backbone damage, loss of base from nucleotide

35
Q

dsDNA break

A

worst, ionizing radiation and chem compounds causes this

36
Q

cellular responses to DNA damage

A

Damage bypass, damage reversal, damage removal and replacement

37
Q

translation synthesis

A

allows bypass damage (t-t) with error prone polymerases,

38
Q

Error pro DNA poly provides

A

trade off bn death or high mutation rate

39
Q

polymerase switching

A

replacement of high fidelity poly for a low error prone one to bypass damaged DNA

40
Q

DNA poly eta

A

translesin synthesis past TT dimer by inserting AA, has extra wide active site

41
Q

prokaryote lesion Bypass needs the

A

SOS response

42
Q

direct repair

A

correct dna damage with specific steps

43
Q

pro of direct repairs

A

specific damage repaired accurately

44
Q

con of direct repair

A

bad from evolutionary standpoint, needs specific enzyme

45
Q

direct reversal examples

A

DNA photolyase, dna methyltransferase, SPRTN

46
Q

DNA photolyase

A

uses UV from blue light break the covalent bonds holding two pyrimidines

47
Q

dna methyltransferase

A

takes the methyl group and moves it

48
Q

SPRTN protease

A

removes DNA protein cross links during synthesis, controlled by ubiquitin

49
Q

single base change repair

A

base excision repair, mismatch repair

50
Q

structural distortion repair

A

nucleotide excision repair

51
Q

base excision repair requires

A

requires DNA glycosylases (cuts base off sugar), leaves a basic cite, can be short patch or long patch

52
Q

short patch repair

A

lyase cuts strand on 3’ end, APE1 removes the phosphoriboes, poly adds new nucleotide, ligase seals backbone

53
Q

long patch repair

A

APE1 cuts strand form 5’ end, poly delta or eta displaces a short old strand and synthesizes new dna, FEN1clips flap of DNA, ligase seals backbone

54
Q

mismatch repair

A

errors during replication, removes larges section of DNA, repairs polymerase errors, MUT proteins

55
Q

nucleotide excision repair

A

longer structural distortion repair
ex t-t dimer
can cut up to 30 nucleotides
XP proteins

56
Q

xp protiens

A

human nucleotide excision repair portein

57
Q

global genome repair

A

ids lesions in the whole genome

58
Q

transcription coupled repair

A

ids lesion in the transcribed strand of active genes

59
Q

nucleotide excision repair subtypes

A

global genome and transcription coupled

60
Q

xeroderma pigmentosum

A

mutations in the nucleotide excision repair proteins
sensitive to the sun
restive mutation

61
Q

double stranded DNA breaks repair mechs

A

homologous recombinant repair (accurate)
non homologous end joining (not as accurate)

62
Q

homologous recombinationand what complex is used for it

A

gets genetic info form an undamaged homo chromosome, MRN complex

63
Q

nonhomo end joining

A

direct ligation of ends all willy nilly
doesn’t have to be from same chromie
huge trade off to take care of lethal breaks,
XU protein 70/80

64
Q

heteroduplex DNA

A

duplex DNA formed during recombination composed of single DNA strands originally form different homologs

65
Q

Holliday Junction

A

recombination intermediate where 2 recombining duplex are joined covalently by single strand crossovers

66
Q

resolvsome

A

resolved Holliday junctions

67
Q

nonhomo end joining leads too

A

mutations

68
Q

nonhomo end joining proteins

A

KU 70/80 dimers, recognize the ends

69
Q

germ line mutations unrepaird

A

(germ cells) passed to next generation
natural selection

70
Q

somatic mutations unrepaired

A

not transmitted, may lead to cancer, can effect survival rate

71
Q

sanger sequencing

A

synthesize complementary DNA in vitro with Nucleotide homologues that terminate the chain

72
Q

translation synthesis proteins

A

DNA poly IV and V (bacteria),
DNA polymerase eta, humans

73
Q

MSH protein

A

recognized damage in 5’ excision of mismatch repair

74
Q

MLH/PMS protein

A

endonuclease activity, activates at PCNA, 3’ excision, mismatch repair

75
Q

BRCA 1, BRCA 2

A

dsDNA recombin proteins

Molecular Genetics (13 decks)

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