Genetics 2 Flashcards

1
Q

a mutation that alters the wild-type phenotype

A

forward mutation

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2
Q

mutation that changes codon to a synonymous codon that specifies the same aa

A

silent termination

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3
Q

substitution mutation that results in protein sequence with altered aa

A

missense mutation

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4
Q

mutation that changes a codon resulting in early termination of translation

A

nonsense mutation

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5
Q

mutation that causes a change in aa sequence but not protein function

A

neutral mutation

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6
Q

A recessive mutation that causes complete or partial absence of protein function

A

loss of function

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7
Q

A dominant mutation that produces new trait in a protein

A

Gain of function

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8
Q

Mutations only expressed under certain conditions (w/ eg)

A

Conditional mutation

simese cats - enzyme functions in cold (darkening fur), but not in warmth

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9
Q

mutations that cause premature death (w/ eg)

A

Lethal mutations

double dwarfism - two copies of the dwarf gene causes death

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10
Q

mutation that changes the mutant phenotype back to wild-type

A

reverse mutation

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11
Q

Types of reverse mutations

A

true reversion
intragenic reversion
second-site reversion

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12
Q

reversion where wild-type DNA sequence is restored by a second mutation within the same codon

A

true reversion

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13
Q

reversion that restores function and occurs through a mutation elsewhere

A

intragenic reversion

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14
Q
reversion that occurs through a mutation in a different gene
both mutations (original and one in different gene) restore the organism to wild-type
A

second-site reversion

intergenic reversion

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15
Q

type of second-site reversion where the mutation of a second gene compensates for the original mutation

A

suppressor mutation

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16
Q

Types of alleles resulting from mutations

A
wild type 
amorphic - recessive
hypomorphic - recessive
hypermorphic - dominant
neomorphic - dominant
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17
Q

allele where the gene functions in a manor seen in the majority of individuals in a population

A

wild type allele

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18
Q

allele that is nonfunctional (no expression or no function)

A

amorphic allele

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19
Q

allele that causes a gene to be partially functional

A

hypomorphic allele

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20
Q

allele that causes expression to be high or protein to be hyperactive

A

hypermorphic allele

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21
Q

allele that causes product to have a new function

A

neomorphic allele

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22
Q

mutation that results from internal factors

A

spontaneous mutation

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23
Q

mutation that results from external factors

A

induced mutation

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24
Q

having a mismatched base in a newly synthesized nucleotide chain

A

incorporated error

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25
movement of strand where one strand forms small loop
strand-slippage
26
environmental agent that significantly increases rate of mutation
mutagen
27
structure where one or two additional covalent bonds exist between adjacent pyrimidine nucleotides
pyrimidine dimer
28
structure formed by bond between 5th and 6th carbons of adjacent thymines
thymine dimer
29
structure formed by bond between 6th C of one thymine and 4th C of another thymine
6-4 photoproduct
30
recognition of damaged DNA
detection
31
endonucleases cut phosphodiester backbone to remove damaged nucleotides
excision
32
nucleotides are added to strand where DNA was removed
polymerization
33
seals nick between sugar and phosphate
ligase
34
repair that removes damage caused by alkylating agents adding alkyl groups to DNA
direct repair
35
repair of thymine dimers caused by UV light (not humans)
photoreactive repair
36
repair that makes correct bases be bound with each other (done by DNA pol)
mismatch repair
37
repair that removes single base mutation
base-excision repair
38
protein that removes single modified base
DNA glycosylase
39
repair that removes bulky DNA lesions (like pyrimidine dimers)
nucleotide-excision repair
40
nucleotide-excision repair proteins in eukaryotes
XPA proteins
41
repair of double strand breaks where random nucleotides are added to connect broken DNA
nonhomologous recombination
42
repair of double stranded breaks using DNA from a sister chromatid
homologous recombination
43
repair that occurs when high levels of mutagens bombard a cell
Error-prone DNA repair | SOS repair
44
area where cell membrane pinches in to split cell during replication
cleavage furrow
45
distinct areas in nucleus that correlate with specific chromosomes
chromosome territories
46
distinct areas in nucleus that DNA will be moved to so that transcription can occur
transcription territories
47
number of human somatic chromosomes
46
48
sex chromosomes
pair #23
49
non-sex chromosomes
autosomes
50
location of a gene on chromosome
locus
51
single chromatid before replication
monad
52
2 sister chromatids bound as 1 chromosome
dyad
53
constricted region of chromosome where kinetochores from and spindle fibers attach to
centromere
54
protein complex that allows centromere to attach to spindle fibers
kinetochore
55
mitosis phase : interphase
2 centrioles from | 2 sets of organelles form
56
mitosis phase : prophase
``` nuclear envelope disappears chromosomes condense kinetochore forms centrosomes move to opposite poles microtubules extend from centrosomes ```
57
mitosis phase : telophase
nuclear envelope forms chromosomes decondense kinetochore and centrosomes break down
58
mitosis phase : cytokenesis
separation of cytoplasm actin and myosin help pinch off cytoplasm separation is caused by contracting ring of microfilaments
59
cytokenesis in plants
vesicles containing cell walls move to middle of cell nascent cell plate forms cell plate fuses with cell wall
60
mitosis
separation of nuclear material
61
G1 phase
cell growth | interval between end of cell division and DNA synthesis
62
S phase
DNA synthesis | a lot of PCNA (beta clamps) are present
63
G2 phase
phase between DNA synthesis and cell division | repair genetic mutations
64
M phase
mitosis and cytokenesis
65
3 cell cycle checkpoints
G1/S checkpoint, G2/M Checkpoint, M checkpoint
66
proteins that control checkpoints
cyclins | cyclin dependant kinases (CDKs)
67
Go phase
non dividing phase
68
G1/S checkpoint
controls whether cell goes into Go or S phase | if activated, cell is committed to dividing
69
G2/M checkpoint
if activated, cell divides
70
M checkpoint
cell won't separate until kinetochores are attached to spindle fibers
71
line of spindle fibers bound together
protofilament
72
protein that attaches to centromere and walks along spindle fiber during anaphase
kinesin
73
how many chromosome sets an organism has
ploidy (n)
74
localized tumors
benign
75
tumors where cells invade other tissues
malignant
76
cells separate and develop new tumors at distant sites
metastasis
77
distant site aka
metastatic site
78
cancer causing agent
carcinogen
79
person who proposed the idea that retinoblastoma occurs because of 2 separate mutations
Alfred Knudson
80
cell acquires additional mutations making them more aggressive in proliferative properties
clonal evolution
81
when 1 chromosome is added or removed during proliferation
aneuploidy
82
gene that stimulates cell growth
oncogene
83
inhibitory gene that slows cell growth
tumor-suppressor gene
84
single mutation resulting in cancer due to dosage effects
haploinsufficiency
85
molecular changes that activate oncogenes
``` translocation oncogenic shift point mutation deletion insertion ```
86
altered/increased oncogenic gene expression caused by a portion of 1 chromosome being placed on another give example
translocation | eg. Bcr-Abl
87
increased oncogenic gene expression caused by a mutation in promoter or transcription factor give example
oncogenic shift | eg. Myc Oncogene
88
increased oncogene protein activity caused by a mutation in the exon so protein becomes super active give example
point mutation | eg. Ras proto-oncogene
89
removal of portion of receptor that stimulates oncogenes making it constantly active
deletion
90
viruses cause cancer by mutating/rearranging host genes and making proto-oncogenes become oncogenes
insertional activation
91
tumor suppressor protein that fixes DNA damage and induces apoptosis
p53
92
amounts of genes that induce apoptosis
high Bax and Fas | low Bcl-2
93
impacts of mutated p53
increases sterol synthesis (proliferation) binds transcription factors and represses other tumor suppressors binds to DNA repair proteins, inhibiting repair
94
ploidy level of gametes and somatic cells
haploid and diploid
95
the process where gametes are formed
gametogenesis
96
the process where eggs are formed
oogeneisis
97
the process where sperm is made
spermatogenesis
98
area where homologous chromosomes interact
synapse
99
protein complex that zips chromosomes together during meiosis
synaptonemal complex
100
region of cross over
chiasma