Chromosomes Flashcards

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
histone code potential
signals that stretch of chromatin is newly replicated, chromatin damaged or needs repair
26
reader-writer complex
A gene regulatory protein will recruit a histone modifying enzyme, which attracts a code reader protein causing a repetitive effect
27
barrier sequence
cluster of proteins such as histone acetylase enzymes blocks chromatin condensing
28
lampbrush chromosomes
extended meiotically paired chromosomes in amphibian oocytes allows viewing of interphase chromosomes
29
polytene chromosome
all homologous chromosomes are side by side and allow viewing of dark heterochromatin DNA bands; first seen drosophila
30
Chromosome puff
duirng transcription, the DNA puffs out on a polytene chromosome
31
Heterochromatin types
different types of heterochromatin allow different levels of compaction
32
nucleus subcompartments
cajal bodies, nucleolus, and repair factories create specialized environments in nucleus
33
homologous gene
genes similar in nucleotide sequence and function because of common ancestry
34
pseudogene
one copy of a duplicated gene can be seen to have become irreversibly inactivated by multiple mutations
35
Globin gene duplications
The globin gene family has duplicated and diverged over eveolution from a single globin to variety of globins during development
36
point mutation
change in a single base pair within the DNA
37
base substitution
one base is substituted for another base
38
transition mutation
base substitution where a pyrimidine is substituted for a pyrimidine or purine for a purine
39
transversion mutation
base substitution where a pyrimidine is substituted for a purine
40
silent mutation
base mutation that does not alter the amino acid sequence even though the nucleotide has changed
41
missense mutation
base substitution where amino acid sequence changes from one amino acid to another with one nucleotide change
42
nonsense mutation
change from a normal codon to a stop codon
43
operon polarity
nonsense mutation occurs in a bacterial operon it might inhibit downstream gene expression
44
frameshift mutation
addition or deletion of a number of nucleotides not divisible by 3
45
neutral mutation
silent mutation and when a missense mutation has not detectable effect on protein
46
wild type genotype
relatively prevalent genotype and if multiple alleles could have mutliple wild type alleles
47
mutant allele
a rare mutation that changes the wild type genotype by altering DNA gene sequence
48
conditional mutants
affect the phenotype under a defined set of conditions such as temperature sensitivity
49
suppressor mutations
a second mutation that affect the phenotype expression of the first mutation by affecting protein
50
intragenic suppressor
when the second mutation is within the same gene (such as LacY) as the first mutation
51
intergenic suppressor
suppressor mutation the is in a different gene from first mutation
52
promoter mutations
up promoter or down promoter mutations affect transcription
53
splice mutation
mutations in eukaryotic genes can alter splice junctions and affect the order and/or number of exons that are contained within mRNA
54
trinucleotide repeat expansion
repeated sequence of 3 nucleotides can readily increase in number from one generation to the next
55
position effect mutation
Genes may be moved next to regulatory sequences such as promoters or heterochromatin regions
56
genetic mosaic mutation
somatic regions that are genotypically different from each other
57
spontaneous mutation
changes in DNA structure that result from abnormalities in biological processes
58
induced mutation
abnormalities caused by environmental agents
59
spontaneous mutation cause
molecular change in DNA caused by depurination, deamination, tautomeric shift
60
depurination
removal of a purine (adenine, guanine) from DNA which breaks covalent bond between deoxyribose and purine causing apurinic site
61
deamination
removal of an amino group from cytosine which produces uracil or changes 5-methylcytosine to thymine
62
T+G tautomers
common form is keto form and rare is enol form
63
A+C tautomers
common form is amino form and rare is imino form
64
tautomeric shift
if the base tautomers shift right before DNA replication a mutation can occur
65
deamination mutagen
nitrous acid replaces amino groups with keto groups in bases
66
hypoxanthine
deamination of adenine. hypoxanthine pairs with cytosine
67
5-bromouracil
base analogue that has tautomeric shifts commonly
68
UV mutagen
thymine dimers between bases in DNA
69
photolyase
in plants and yeast thymine dimers are split
70
alkyltransferase
protein removes methyl or ethyl groups from guanine bases mutated by alkylating agents
71
base excision repair
enzyme DNA glycosylase that recognizes abnormal bases and cleaves the bond to sugar
72
nucleotide excision repair
direct repair of nucleotides
73
homologous recombination repair
repairs double stranded breaks by exchanging DNA between broken and unbroken sister chromatids during S and G2 phase
74
nonhomologous end joining
repairs double stranded breaks by filling DNA gaps and ligates them together
75
bacteria origin of replication
bacterial chromosomes have a single origin of replication and proceeds bidirectionally