Chromosomes Flashcards

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1
Q

homologous recombination

A

DNA segments that are similar to each other break and rejoin to form a new combination

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2
Q

site specific recombination

A

nonhomologous DNA segments are recombined at specific sites

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3
Q

transposable elements

A

small segments of DNA that move themselves to multiple locations within chromosomal DNA

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4
Q

harlequin chromosome

A

reveals recombination after BrdU staining between sister chromatids

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5
Q

holliday junction

A

the mechanism of crossing over between two homologous chromosomes

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6
Q

viral integration

A

some virus integrate DNA into host chromsome by site specific recombination

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7
Q

antibody recombination

A

site specific recombination of v and j regions for light chain; v, d, and j regions for heavy chain variable

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8
Q

recombination signal

A

recognition site for site specific recombination between the v and j regions

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9
Q

NHEJ proteins

A

non-homologous end-joining proteins; connection phase of V(D)J recombination

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10
Q

homologous chromosomes

A

homologs - the maternal and paternal chromosomes of a pair

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11
Q

human karyotype

A

cytogeneticists use the 46 human chromosomes displayed at mitosis to view abnormalities

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12
Q

human genes

A

approximately 25,000

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13
Q

Avg gene size

A

27,000 nucleotide pairs or 9,000 amino acids

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14
Q

Avg # exons/gene

A

10

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15
Q

nuclease

A

breaks down DNA by cutting between the nucleosomes

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16
Q

histone octamer

A

two molecules each of H2A, H2B, H3, and H4

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17
Q

Histone

A

high salt dissociates the ionic (salt) linkages between DNA and histones

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18
Q

histone deacetylase complex

A

HDAC-removes acetyl groups (COCH3) from lysine and removing gene expression proteins

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19
Q

histone acetyl transferase

A

HAT-commonly adds acetyl group to lysine on histones and recruits proteins that turn on gene expression. Also adds acetyl to transcription factors

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20
Q

histone methyl transferase

A

adds methyl groups

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21
Q

acetylation vs methylation

A

A methylated lysine cannot be acetylated and vice versa

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22
Q

histone covalent modifications

A

acetylation+methylation of lysines, phosphorylation of serine+threonine, methylation of arginine, ubiquityl+sumoyl+biotin of lysine

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23
Q

Histone synthesis

A

synthesized during S phase

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24
Q

histone variants

A

synthesized during interphase binding to specific chromatin sites

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25
Q

histone code potential

A

signals that stretch of chromatin is newly replicated, chromatin damaged or needs repair

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26
Q

reader-writer complex

A

A gene regulatory protein will recruit a histone modifying enzyme, which attracts a code reader protein causing a repetitive effect

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27
Q

barrier sequence

A

cluster of proteins such as histone acetylase enzymes blocks chromatin condensing

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28
Q

lampbrush chromosomes

A

extended meiotically paired chromosomes in amphibian oocytes allows viewing of interphase chromosomes

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29
Q

polytene chromosome

A

all homologous chromosomes are side by side and allow viewing of dark heterochromatin DNA bands; first seen drosophila

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30
Q

Chromosome puff

A

duirng transcription, the DNA puffs out on a polytene chromosome

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31
Q

Heterochromatin types

A

different types of heterochromatin allow different levels of compaction

32
Q

nucleus subcompartments

A

cajal bodies, nucleolus, and repair factories create specialized environments in nucleus

33
Q

homologous gene

A

genes similar in nucleotide sequence and function because of common ancestry

34
Q

pseudogene

A

one copy of a duplicated gene can be seen to have become irreversibly inactivated by multiple mutations

35
Q

Globin gene duplications

A

The globin gene family has duplicated and diverged over eveolution from a single globin to variety of globins during development

36
Q

point mutation

A

change in a single base pair within the DNA

37
Q

base substitution

A

one base is substituted for another base

38
Q

transition mutation

A

base substitution where a pyrimidine is substituted for a pyrimidine or purine for a purine

39
Q

transversion mutation

A

base substitution where a pyrimidine is substituted for a purine

40
Q

silent mutation

A

base mutation that does not alter the amino acid sequence even though the nucleotide has changed

41
Q

missense mutation

A

base substitution where amino acid sequence changes from one amino acid to another with one nucleotide change

42
Q

nonsense mutation

A

change from a normal codon to a stop codon

43
Q

operon polarity

A

nonsense mutation occurs in a bacterial operon it might inhibit downstream gene expression

44
Q

frameshift mutation

A

addition or deletion of a number of nucleotides not divisible by 3

45
Q

neutral mutation

A

silent mutation and when a missense mutation has not detectable effect on protein

46
Q

wild type genotype

A

relatively prevalent genotype and if multiple alleles could have mutliple wild type alleles

47
Q

mutant allele

A

a rare mutation that changes the wild type genotype by altering DNA gene sequence

48
Q

conditional mutants

A

affect the phenotype under a defined set of conditions such as temperature sensitivity

49
Q

suppressor mutations

A

a second mutation that affect the phenotype expression of the first mutation by affecting protein

50
Q

intragenic suppressor

A

when the second mutation is within the same gene (such as LacY) as the first mutation

51
Q

intergenic suppressor

A

suppressor mutation the is in a different gene from first mutation

52
Q

promoter mutations

A

up promoter or down promoter mutations affect transcription

53
Q

splice mutation

A

mutations in eukaryotic genes can alter splice junctions and affect the order and/or number of exons that are contained within mRNA

54
Q

trinucleotide repeat expansion

A

repeated sequence of 3 nucleotides can readily increase in number from one generation to the next

55
Q

position effect mutation

A

Genes may be moved next to regulatory sequences such as promoters or heterochromatin regions

56
Q

genetic mosaic mutation

A

somatic regions that are genotypically different from each other

57
Q

spontaneous mutation

A

changes in DNA structure that result from abnormalities in biological processes

58
Q

induced mutation

A

abnormalities caused by environmental agents

59
Q

spontaneous mutation cause

A

molecular change in DNA caused by depurination, deamination, tautomeric shift

60
Q

depurination

A

removal of a purine (adenine, guanine) from DNA which breaks covalent bond between deoxyribose and purine causing apurinic site

61
Q

deamination

A

removal of an amino group from cytosine which produces uracil or changes 5-methylcytosine to thymine

62
Q

T+G tautomers

A

common form is keto form and rare is enol form

63
Q

A+C tautomers

A

common form is amino form and rare is imino form

64
Q

tautomeric shift

A

if the base tautomers shift right before DNA replication a mutation can occur

65
Q

deamination mutagen

A

nitrous acid replaces amino groups with keto groups in bases

66
Q

hypoxanthine

A

deamination of adenine. hypoxanthine pairs with cytosine

67
Q

5-bromouracil

A

base analogue that has tautomeric shifts commonly

68
Q

UV mutagen

A

thymine dimers between bases in DNA

69
Q

photolyase

A

in plants and yeast thymine dimers are split

70
Q

alkyltransferase

A

protein removes methyl or ethyl groups from guanine bases mutated by alkylating agents

71
Q

base excision repair

A

enzyme DNA glycosylase that recognizes abnormal bases and cleaves the bond to sugar

72
Q

nucleotide excision repair

A

direct repair of nucleotides

73
Q

homologous recombination repair

A

repairs double stranded breaks by exchanging DNA between broken and unbroken sister chromatids during S and G2 phase

74
Q

nonhomologous end joining

A

repairs double stranded breaks by filling DNA gaps and ligates them together

75
Q

bacteria origin of replication

A

bacterial chromosomes have a single origin of replication and proceeds bidirectionally