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EBIO 2070 > Final Exam > Flashcards

Final Exam Flashcards

(73 cards)

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1
Q

Nucleotide Excision Repair (NER)

A

DNA repair mechanism that removes and replaces damaged DNA sections, particularly those caused by UV damage
it functions throughout the cell

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2
Q

Nonhomologous End Joining (NHEJ)

A

an error-prone DNA repair mechanism that rejoins broken DNA ends
it is available throughout the cell cycle, especially in the absence of a DNA template

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3
Q

Synthesis-Dependent Strand Annealing (SDSA)

A

an error-free DNA repair mechanism that utilizes a DNA copy to repair double-strand breaks without crossing over
this mechanism is only active during DNA replication phases (S and G2)

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4
Q

retrotransposons

A

genetic elements that transpose via an RNA intermediate
they have a “copy and paste” mechanism, increasing genome copy number
structurally, they contain long terminal (LTRs) and the pol gene encoding reverse transcriptase

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5
Q

DNA transposons

A

genetic elements that transpose directly as DNA, using a “cut and paste” mechanism
they typically don’t increase copy number and are characterized by DNA sequences flanked by short repeats

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6
Q

chromosomal rearrangements

A

mutations affecting chromosome structure, including deletions, duplications, inversions, and translocations

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7
Q

deletion

A

loss of a chromosome

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8
Q

duplication

A

copying of a chromosome segment

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9
Q

inversion

A

flipping of a chromosome segment

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10
Q

translocation

A

movement of a chromosome segment to another chromosome

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11
Q

aneuploidy

A

an abnormal number of chromosomes (extra or missing)

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12
Q

monosomy

A

missing one chromosome
2n-1

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13
Q

trisomy

A

having one extra chromosome
2n+1

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14
Q

aberrant euploidy

A

an abnormal number of whole chromosome sets

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15
Q

polyploidy

A

more than 2 sets of chromosomes

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16
Q

monoploidy

A

one set of chromosomes
1n

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17
Q

triploidy

A

three sets of chromosomes
3n

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18
Q

tetraploidy

A

four sets of chromosomes
4n

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19
Q

autotetraploidy

A

tetraploidy where two sets of chromosomes are identical

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20
Q

allotetraploidy

A

tetraploidy where two sets of chromosomes are different

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21
Q

wild type

A

the normal, unmutated DNA sequence that results in a fully functional protein

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22
Q

synonymous mutation

A

a DNA base change that doesn’t alter the amino acid sequence due to redundancy in the genetic code
loss-of-function mutation (in rare cases)

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23
Q

missense mutation (conservative)

A

a mutation that changes one amino acid to a similar one, often having minimal impact on protein function
gain-of-function mutation

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24
Q

missense mutation (nonconservative)

A

a mutation that changes one amino acid to a very different one, potentially significantly altering protein structure
gain-of-function or loss-of-function mutation

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25
nonsense mutation
a mutation that converts a codon into a stop codon, resulting in a truncated, often nonfunctional protein loss-of-function mutation
26
frameshift mutation (base insertion)
addition of a base, shifting the reading frame and altering the downstream protein sequence loss-of-function mutation
27
frameshift mutation (base deletion)
removal of a base, also shifting the reading frame and disrupting protein function loss-of-function mutation
28
hallmarks of cancer (6)
characteristics of cancer cells: 1. evading apoptosis 2. self-sufficiency in growth signals 3. insensitivity to anti-growth signals 4. tissue invasion and metastasis 5. limitless replicative potential 6. sustained angiogenesis
29
cyclins
regulatory proteins that control cycle progression by binding to and activating Cdks
30
Cyclin-dependent kinases (Cdks)
enzymes that require cyclins for activation; once activated, they phosphorylate target proteins, driving cell cycle events
31
cell cycle checkpoints
control mechanisms that ensure proper cell cycle progression by monitoring for errors before transitioning to the next phase
32
apoptosis
programmed cell death, a controlled process of cell self-destruction in response to damage or developmental cues
33
proto-oncogenes
genes involved in cell growth and division; mutations can convert them into oncogenes, leading to uncontrolled cell proliferation and cancer
34
tumor-suppressor genes
genes that regulate cell division, DNA repair, and apoptosis; mutations can inactivate them, promoting uncontrolled cell growth and cancer
35
drivers
mutations that directly contribute to cancer development by promoting cell growth or disrupting control mechanisms
36
passengers
mutations that occur during tumorigenesis but don't directly contribute to cancer development
37
meiosis
a specialized cell division process that reduces chromosome number by half, producing haploid gametes for sexual reproduction
38
base pairs
the fundamental units of DNA, consisting of two complementary nucleotides
39
chromsomes
structures composed of DNA and proteins that carry genetic information
40
chromatids
identical copies of a replicated chromosome, joined at the centromere
41
nondisjunction
failure of chromosomes to separate properly during meiosis, resulting in aneuploidy
42
gene editing
targeted modification of genes during meiosis to introduce desired traits or mitigate genetic disorders
43
cloning
creating genetically identical copies of an organism, potentially reducing biodiversity and increasing the risk of abnormalties
44
complete dominance
one allele (dominant) completely masks the expression of the other (recessive) in a heterozygote
45
monohybrid cross
a cross involving a single gene
46
dihybrid cross
a cross involving two genes
47
independent assortment
the principle that alleles of different genes segregate independently during gamete formation
48
incomplete dominance
a situation where heterozygotes exhibit a blended phenotype between the two homozygous phenotypes
49
codominance
a situation where both alleles are expressed equally in the heterozygote, resulting in a phenotype that displays both traits
50
pleitropy
a single gene affecting multiple traits or phenotypes
51
complementation
two different mutations in different genes resorting the normal phenotype when present together
52
epistasis
one gene's allele masking or modifying the effects of another genes alleles
53
incomplete penetrance
a situation where not all individuals with a specific genotype exhibit the expected phenotype
54
variable expressivity
individuals with the same genotype exhibiting varying degrees of phenotype expression
55
continuous variation
traits that vary smoothly across a range without distinct categories, often influenced by multiple genes and environmental factors
56
discontinuous variation
traits with distinct categories and no intermediate forms, typically controlled by a single gene with clear dominant/recessive alleles
57
polygenes
multiple genes that contribute to a single trait, each with a small additive effect
58
recombinant
an offspring or DNA molecule with a combination of alleles different from either parent due to genetic rearrangement
59
testcross
a cross between an individual with an unknown genotype and a homozygous recessive individual to determine the unknown genotype
60
crossing over
exchange of DNA segments between homologous chromosomes during meiosis, generating recombinant chromosomes
61
linkage map
maps showing the relative positions of genes on a chromosome based recombination frequencies
62
physical maps
maps showing the actual physical distances (in base pairs) between genes on a chromosome
63
locus
the specific location of a gene on a chromosome
64
homozygote
an individual has two identical versions (alleles) of a gene from each parent homo = same
65
heterozygote
an individual has two different versions (alleles) of a gene from each parent hetero = other
66
Hardy-Weinberg Equilibrium
a state in a population where allele and genotype frequencies remain stable over generations, assuming certain conditions are met
67
inbreeding
nonrandom mating mating between closely related individuals, which can increase the frequency of homozygous genotypes
68
F(ST)
measures genetic variation between subpopulations compared to the total population
69
F(ST) = 0
populations are similar no genetic differentiation; subpopulations are genetically identical with all variation within subpopulations
70
F(ST) = 1
populations are different complete genetic differentiation; subpopulations share no alleles, with all variation between subpopulations
71
genotype frequency
proportion of each genotype in the population
72
allele frequency
proportion of each allele in the population
73
conditions necessary for a population to be in Hardy-Weinberg equilibrium
large, random-mating population with no selection, mutation, or migration

EBIO 2070 (3 decks)

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