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Genetics Flashcards

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AP® Biology flashcards Biology 101 flashcards
1
Q

Nucleotide: monomer

A

A sugar (deoxyribose) with a phosphate group attached to it and a base

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2
Q

Deoxyribose bases

A

Adenine (A), Guanine (G), Cytosine (C), or Thymine (T)

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3
Q

Protein: polypeptide

A

Long chain of 20 types of amino acids, each linked by a covalent peptide bond

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4
Q

Protein: pH 7

A

Both the amino and carboxyl groups are ionized

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5
Q

optical isomers

A

Proteins consist of exclusively L amino acids

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6
Q

Lysine side chain

A

Basic NH3+ amide group

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7
Q

Arginine side chain

A

Basic NH2+ resonance

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8
Q

Histidine side chain

A

Basic NH+ weak pentagon

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9
Q

Deoxyribose sugar

A

H at the 2’ carbon position

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10
Q

Ribose sugar

A

OH at the 2’ carbon position

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11
Q

Purine bases

A

Adenine and Guanine with double rings

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12
Q

Pyrimidine bases

A

Thymine, Cytosine and Uracil with single rings

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13
Q

Nucleoside

A

A base attached to only a sugar: adenine+ribose–>adenosine

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14
Q

Adenosine triphosphate

A

ATP nucleotide containing adenine, ribose, and three phosphate groups

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15
Q

Guanosine triphosphate

A

GTP nucleotide containing guanine, ribose, and three phosphate groups

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16
Q

deoxyadenosine triphosphate

A

dATP nucelotide containing adenine, deoxyribose, and three phosphate groups

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17
Q

phosphodiester bond

A

two covalent phosphoester bonds with phosphate attached to 5’ carbon of one sugar and 3’carbon of another sugar

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18
Q

Chargaff’s rule

A

Equal amounts of A&T, G&C. A+G=T+C

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19
Q

DNA directionality

A

Phosphate group adds on to 3’ hydroxyl end

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20
Q

Complete helix turn

A

One helix turn is 3.4 nm and contains 10 nucleotides

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21
Q

Bases: hydrogen bonds

A

G and C -> 3 bonds. A and T -> 2 bonds

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22
Q

A DNA

A

Right handed helix and tilted on axis

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23
Q

B DNA

A

Predominant DNA in living cells, right handed helix

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24
Q

Z DNA

A

Left handed helix, may affect transcription and level of chromosome compaction

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25
Q

RNA helix

A

RNA can be single stranded or be double stranded at some points

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26
Q

Structural gene

A

Nucleotide sequences that encode proteins

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27
Q

Intergenic regions

A

nontranscribed regions of DNA located between adjacent genes

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28
Q

Bacteria chromosome

A

Mos bacteria contain circular chromosomal DNA and one chromosome with few million bp

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29
Q

Bacteria genes and origin

A

several thousand different genes and one origin of replication

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30
Q

Bacteria DNA compaction

A

DNA must be compacted about 1,000 fold

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31
Q

DNA gyrase

A

In bacteria travels in front of DNA helicase and relaxes positive supercoils

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32
Q

Topoisomerase I

A

In bacteria relaxes negative supercoils

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33
Q

Quinoline + coumarin

A

Drugs that inhibit gyrase and bacterial topoisomerases but not eukaryotic topoisomerase

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34
Q

Chromatin

A

DNA-protein complex found within eukaryotic chromosomes

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35
Q

Centromere

A

Recognition site for kinetochore proteins during mitosis and meiosis

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36
Q

Eukaryotic origin of replication

A

each chromosome contains OR every 100,00 bp

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37
Q

Eukaryotic Chromosome bp

A

Tens of millions to hundreds of millions bp

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38
Q

Telomeres

A

inhibit chromosomal rearrangements such as translocations

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39
Q

Nucleosome

A

double stranded segment of DNA wrapped around octamer of histone proteins

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40
Q

DNA:nucleosome

A

150 bp around histones + 20-100 bp linker region

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41
Q

Interphase compaction

A

Nucleosomes+zigzag 30 nm fiber+radial loops

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42
Q

Radial loops

A

Chromosome sequences matrix attachment regions attaching to nuclear matrix

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43
Q

Euchromatin

A

capable of gene transcription and forms radial loop domains during interphase

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44
Q

heterochromatin

A

compacted regions at centromere and telomere

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45
Q

Facultative heterochromatin

A

chromatin that can occasionally interconvert between heterochromatin and euchromatin

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46
Q

histone code hypothesis

A

Patterns involving phosphorylation of serine at first position in H2A and acetylation of 5th and 8th lysine in H4 may attract chromatin loosening proteins

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47
Q

Condensin

A

Enters nucleus at M phase and converts euchromatin in chromatids to heterochromatin

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48
Q

cohesin

A

promotes binding between sister chromatids after s phase through prophase along entire length

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49
Q

Separase

A

cohesins at centromere remain attached until anaphase

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50
Q

Semiconservative model

A

14N and 15N radioiosyptes showed DNA replication

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51
Q

bacteria ori

A

DnaA binds to ori and recriuts DNA helicase

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52
Q

DNA helicase

A

when this enzyme encounters double stranded regions it breaks the hydrogen bonds between the strands to generate single strands

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53
Q

Single strand binding proteins

A

binds to single DNA strands and prevents double helix

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54
Q

DNA primase

A

synthesizes short strands of RNA called RNA primers

55
Q

DNA polymerase III

A

synthesizes DNA in leading and lagging strand

56
Q

DNA polymerase I

A

removes RNA primers and fills in with DNA

57
Q

okazaki fragment

A

1,000-2,000 fragments in length

58
Q

bacterial primosome

A

DNA helicase+primase

59
Q

bacterial replisome

A

2 DNA polymerase holoenzymes+primosome

60
Q

DNA polymerase III fidelity

A

1 mistake in 100 million nucleotides

61
Q

oriC regulation

A

DnaA protein amount and GATC methylation sites in oirigin

62
Q

Eukaryotic origins

A

replication proceeds bidirectionally from many origins during S phase

63
Q

ARS elements

A

50 bp and necessary to initiate chromosome replication

64
Q

DNA polymerase y(gamma)

A

replication of mitochondria DNA

65
Q

DNA polymerase a(alpha)

A

associates with primase to synthesize RNA primers followed by 20 DNA bp

66
Q

DNA polymerase delta

A

possible greater role in lagging strand synthesis

67
Q

DNA polymerase e(epsilon)

A

possible greater role in leading strand synthesis

68
Q

telomerase

A

synthesizes additional repeats of telomeric sequences

69
Q

homologous chromosomes

A

homologs - the maternal and paternal chromosomes of a pair

70
Q

human karyotype

A

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

71
Q

human genes

A

approximately 25,000

72
Q

Avg gene size

A

27,000 nucleotide pairs or 9,000 amino acids

73
Q

Avg # exons/gene

A

10

74
Q

nuclease

A

breaks down DNA by cutting between the nucleosomes

75
Q

histone octamer

A

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

76
Q

Histone

A

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

77
Q

histone deacetylase complex

A

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

78
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

79
Q

histone methyl transferase

A

adds methyl groups

80
Q

acetylation vs methylation

A

A methylated lysine cannot be acetylated and vice versa

81
Q

histone covalent modifications

A

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

82
Q

Histone synthesis

A

synthesized during S phase

83
Q

histone variants

A

synthesized during interphase binding to specific chromatin sites

84
Q

histone code potential

A

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

85
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

86
Q

barrier sequence

A

cluster of proteins such as histone acetylase enzymes blocks chromatin condensing

87
Q

lampbrush chromosomes

A

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

88
Q

polytene chromosome

A

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

89
Q

Chromosome puff

A

duirng transcription, the DNA puffs out on a polytene chromosome

90
Q

Heterochromatin types

A

different types of heterochromatin allow different levels of compaction

91
Q

nucleus subcompartments

A

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

92
Q

homologous gene

A

genes similar in nucleotide sequence and function because of common ancestry

93
Q

pseudogene

A

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

94
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

95
Q

point mutation

A

change in a single base pair within the DNA

96
Q

base substitution

A

one base is substituted for another base

97
Q

transition mutation

A

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

98
Q

transversion mutation

A

base substitution where a pyrimidine is substituted for a purine

99
Q

silent mutation

A

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

100
Q

missense mutation

A

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

101
Q

nonsense mutation

A

change from a normal codon to a stop codon

102
Q

operon polarity

A

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

103
Q

frameshift mutation

A

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

104
Q

neutral mutation

A

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

105
Q

wild type genotype

A

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

106
Q

mutant allele

A

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

107
Q

conditional mutants

A

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

108
Q

suppressor mutations

A

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

109
Q

intragenic suppressor

A

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

110
Q

intergenic suppressor

A

suppressor mutation the is in a different gene from first mutation

111
Q

promoter mutations

A

up promoter or down promoter mutations affect transcription

112
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

113
Q

trinucleotide repeat expansion

A

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

114
Q

position effect mutation

A

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

115
Q

genetic mosaic mutation

A

somatic regions that are genotypically different from each other

116
Q

spontaneous mutation

A

changes in DNA structure that result from abnormalities in biological processes

117
Q

induced mutation

A

abnormalities caused by environmental agents

118
Q

spontaneous mutation cause

A

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

119
Q

depurination

A

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

120
Q

deamination

A

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

121
Q

T+G tautomers

A

common form is keto form and rare is enol form

122
Q

A+C tautomers

A

common form is amino form and rare is imino form

123
Q

tautomeric shift

A

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

124
Q

deamination mutagen

A

nitrous acid replaces amino groups with keto groups in bases

125
Q

hypoxanthine

A

deamination of adenine. hypoxanthine pairs with cytosine

126
Q

5-bromouracil

A

base analogue that has tautomeric shifts commonly

127
Q

UV mutagen

A

thymine dimers between bases in DNA

128
Q

photolyase

A

in plants and yeast thymine dimers are split

129
Q

alkyltransferase

A

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

130
Q

base excision repair

A

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

131
Q

nucleotide excision repair

A

direct repair of nucleotides

132
Q

homologous recombination repair

A

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

133
Q

nonhomologous end joining

A

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

134
Q

bacteria origin of replication

A

bacterial chromosomes have a single origin of replication and proceeds bidirectionally

Biology (28 decks)

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