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genetics 3 Flashcards

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1
Q

presence of lactose and glucose positive and negative control

A

lactose: negative control
glucose: positive control

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2
Q

purine

A

A and G

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3
Q

polygenic diseases

A

most genetic diseases
caused by variations in several genes

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4
Q

nonhomologous end joining (NHEJ)

A

quick emergency repair
activated in G1
fast but sloppy
doesn’t need matching DNA template

Ku70 and Ku80 spot break and grab onto it
Artemis trims off damaged end
XRCC4 and DNA ligase IV stick ends together
act as glue while XLF ensures proper alignment
(use notes)

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5
Q

frameshift mutation

A

insertion or deletion of base pairs
shifts nucleotides, triplet reading altered

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6
Q

dominant mutation

A

results in observable phenotype changes

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7
Q

transcription factories

A

only present when needed
core protein holds everything together
transcribe multiple DNA at once
(use notes)

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8
Q

oxidative damage to DNA

A

oxygen reacts with DNA

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9
Q

base analogs

A

mutagenic chemicals can substitute for purine or pyrimidines
increase tautomeric shifts
(use notes)

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10
Q

lethal mutation

A

effects essential process and results in death
Ex. Tay-Sachs

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11
Q

loss of function mutation

A

reduces/eliminates function of gene production
most are recessive

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12
Q

HNH domain

A

cleaves strand of viral DNA that is complementary to crRNA

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13
Q

somatic mutations

A

occurs in any cell except germ cells
not heritable

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14
Q

transitions (point mutations)

A

pyrimidine replaces pyrimidine or purine replaces purine

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15
Q

repressible system

A

tryptophan operon
presence of specific molecule inhibits gene expression

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16
Q

double-strand break repair(DSB repair)

A

extremely dangerous
two pathways
homologous recombination
nonhomologous end joining

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17
Q

tautomeric shift

A

can change bonding structure
can cause permanent base-pair mutations
(use notes)

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18
Q

dominant gain of function mutation

A

results in gene with enhanced, negative, or new function

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19
Q

deamination

A

amino group in C or A is converted to U and A is converted to hypoxanthine
result: A=T converted to G=C
(use notes)

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20
Q

antiterminator hairpin

A

forms in absence of tryptophan
ribosome stalls at codons
transcription proceeds
(use notes)

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21
Q

functional domains

A

don’t really know what these are so use notes

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22
Q

promoter structure (use notes)

A

TATA box (-30 to -24)
TFIIB recognition element (-38 to -32 & -23 to -17)
initiator (-2 to +4)
motif ten element (+18 to +27)
downstream promoter element (+28 to +33)

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23
Q

X-linked recessive mutations

A

arise in homogametic female
expressed in hemizygous male
Ex. red-green color blindness

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24
Q

interchromatin domains

A

channels between chromosomes that contain little or no DNA

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25
homologous recombination repair
occurs in late S or early G2 phase enzyme recognizes double strand break and digest 5' ends (leaves overhangs) one overhang searches for complementary region on sister chromatid once aligned DNA synthesis proceed from the 3' overhang using undamaged DNA as template (use notes)
26
neutral mutation
effect is neither beneficial nor detrimental can occur in any part of the genome
27
RNA pol II initiation complex (use notes)
1. TFIID binds to promoter 2. TFIIA & TFIIB join 3. RNA Pol II + TFIIF recruited 4. TFIIE & TFIIH complete PIC
28
RNA Pol II + TFIIF recruited
TFIIF delivers RNA Pol II to promoter Positions polymerase near start site
29
focused promoters
specific transcription start site | what you normally think of for a promoter
30
nucleotide excision repair (NER)
repairs bulky lesion that alters double helix cuts out 28 bp in humans undamaged strand is used as template for replication (use notes)
31
pyrimidine
C and T (U)
32
recessive autosomal mutation
occur in somatic cell of diploid organism unlikely to result in detectable phenotype (threshold potential reached)
33
photoreactivation repair
bacteria only cleaves bond between thymine dimers enzyme must absorb blue light to cleave dimer (use notes)
34
cAMP
binds to CAP when glucose is absent binds to promoter and allows for RNA poly to bind and transcribe
35
TFIIA & TFIIB join
TFIIA stabilizes TFIID TFIIB bridges TFIID to RNA Pol II, sets orientation
36
positive control
transcription only occurs when regulator molecule stimulates RNA production (off-on)
37
monogenic disease
single base pair change much more rare **Ex. achondroplasia (dwarfism)**
38
TFIID binds promoter
TBP (TATA binding protein) in TFIID bind TATA box, bends DNA TAFs (TBP-associated factors) stabilize and recognize other elements
39
transposable genetic elements
DNA element that move within or between genomes
40
transposons
cut and paste through genome
41
strand discrimination
adenine methylases adds methyl group to adenine occurs after replication (gap) new strand remains unmethylated
42
retrotransposons
copy and paste through genome long terminal repeat (LTR non-LTR retrotransposons (use notes)
43
CRISPR-Cas mechanism
1. Spacer acquisition Bacteria survives a viral attack and stores the viruses DNA 2. crRNA biogenesis When same virus attack again, spacer DNA is transcribed in crRNA crRNA pairs with tracrRNA to form a complex which acts like a GPS 3. Target interference RNA complex teams up with Cas9 DNA cutting capabilities Cas9 base-pairs with the matching sequence PAM Usually “NGG” (N is any nucleotide) Acts as a security code confirming the DNA is foreign
44
transcription factors
regulatory proteins activators or repressors (use notes)
45
spontaneous mutations
changes in sequence that occur naturally low mutation rates mutations arise from replication (DNA polymerase isn't perfect) replication slippage
46
Laci
close but not part of lac operon produces repressor molecule repressor binds to operator gene when no lactose present
47
pyrimidine dimer
two identical pyrimidines that distort DNA conformation (use notes)
48
constitutive enzyme
continuously produced
49
regulatory region (lac operon)
consist of operator and promoter
50
SWI/SWF
remodeling complexes 1. loosens attachment between histone and DNA 2. loosens the DNA strand from nucleosome core 3. causes reorganization of internal nucleosome component (use notes)
51
transversion (point mutation)
purine and pyrimidine are interchanged
52
TFIIE & TFIIH complete PIC
TFIIE scaffolds complex TFIIH unwinds DNA (XPB helicase) and phosphorylates RNA Pol II (transcription begins)
53
tautomers
alternate chemical forms moves proton (use notes)
54
induced mutations
caused by chemicals and stuff
55
proximal promoter elements
modulate efficiency of basal levels of transcription serves as recognition sites for transcription machinery
56
H2A.Z
variant histone that affects nucleosome mobility and positioning
57
base and nucleotide and excision repair
single stranded repairs light independent exonuclease recognizes and cuts error DNA polymerase inserts nucleotide missing in gap DNA ligase seal final "nick"
58
depurination
loss of nitrogenous bases (G or A) leads to apurinic site (without purine)
59
intercalating agents
chemicals that wedge between DNA base pairs (sits in between the gaps of a ladder)
60
insulators
found between an enhancer-promoter region for a nontargeted gene
61
RecA proteins
Directs recombination exchange with corresponding region on undamaged parental strand (use notes)
62
silent mutation (sense mutation)
new triplet code but same amino acid wobble hypothesis
63
understand what CRISPR is
use notes
64
autosomal mutations
occur within genes located on autosome on chromosome 1-22 in humans
65
inducible enzymes
lac operon only active when specific substrates are present
66
Base excision repair(BER)
corrects damaged DNA base cuts between target base and sugar creates apurinic site(sugar missing base) use notes
67
ames test
experiment used to tell if a chemical can cause a mutation in DNA mutant strands are unable to synthesize histidine (use notes)
68
negative control
genetic expression occurs unless shut off by regulator (on-off)
69
dispersed promoters
tend to be essential genes several weak transcriptional start sites all promoters need to be activated to transcribe gene (use notes)
70
riboswitches
mRNA structure bind with small ligand (causes conformational changes) when ligand binds, transcription stops creates antiterminator and terminator structure (use notes)
71
tryptophan operon (trp)
use notes to understand
72
point mutation/base substitution
change from one base pair to another
73
missense mutation
new triplet code for different amino acid
74
CRISPR acronym
clustered regularly interspaced short palindromic repeats
75
repression loop
binding of repressor to operators O1-O3 creates loop prevents access of RNA polymerase to promoter (use note)
76
acetylation
loosens DNA (more transcription) decreases positive charge by binding acetyl groups to lysine
77
UV light: pyrimidine dimers
purines and pyrimidines absorb light at 260nm UV radiation creates pyrimidine dimer (use notes)
78
inherited autosomal mutations
are expressed in first generation
79
nucleosome
DNA wrapped around histone
80
ionizing energy
causes ionization of molecules x-rays, gamma rays, cosmic rays
81
attenuation
mRNA has potential to fold into different stem loops (antiterminator, terminator) able to regulate transcription
82
replication slippage
If loop occurs in template strand during replication, DNA polymerase misses looped out nucleotides More common in repeat sequences
83
X- and Y- linked mutations
within genes located on X and Y chromosome
84
chromosome territory
each chromosome occupies discreet domain and stays separate from other chromosomes
85
Depurination and deamination
common causes of spontaneous mutations
86
null mutation
complete loss of function
87
germ-line mutations
occur in gametes inherited
88
methylation
tightens DNA (less transcription)
89
lethal conditional mutation
protein doesn't survive but organism may continue to live dependent on environment (temperature sensitive) Ex. Siamese cats fur color
90
nonsense mutation
codes for a stop codon
91
terminator hairpin
forms in presence of tryptophan no stalling (use notes)
92
lac operon
use notes to understand
93
diseases due to defect in NER
both autosomal recessive cockayne syndrome sunlight sensitivity but no increase in cancer premature ageing death by 20 trichothiodystrophy dwarfism brittle hair and skin sensitive to sunlight but no cancer death by age 6
94
CAP
binds to cAMP when glucose is absent binds to promoter and allows for RNA poly to bind and transcribe
95
small noncoding RNA
“Comes from a different build to tell you how to do your job” Can be negative or positive regulators (use notes)
96
RuvC
cuts same strand that crRNA binds to
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