7: Mutation, Repair, & Transposable Elements Flashcards

0
Q

Adaptive mutation hypothesis

A

Environment causes heritable change

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1
Q

What is the spontaneous random mutation hypothesis?

A

Mutation occurs by chance and not in response to the environment

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2
Q

What did luria and delbruck do?

A

They performed a fluctuation test, disproving the hypothesis of adaptive mutation

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3
Q

Mutation rate =

A

Change/nucleotide/generation

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4
Q

Eukaryotic mutation rate

A

10^-4 and 10^-6

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5
Q

Bacteria/phage mutation rate

A

10^-6 and 10^-8

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6
Q

Transition mutations

A

Purine –> purine

Pyrimidine –> pyrimidine

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7
Q

Transversion mutations

A

Pyrimidine –> purine

Purine –> pyrimidine

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8
Q

Is transition or transversion more common?

A

Transition

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9
Q

What is a missense mutation?

A

A change from one amino acid to another

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10
Q

What is a nonsense mutation?

A

A change from an amino acid to a stop codon

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11
Q

What is a neutral mutation?

A

A change from an amino acid to another amino acid with similar chemical properties

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12
Q

What is a silent mutation?

A

A change in the codon such that the same amino acid is coded for

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13
Q

2 types of reversion mutations

A
  1. True reversion

2. Partial reversion

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14
Q

True reversion

A

Mutant to wild type ( identical amino acid seq)

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15
Q

Partial reversion

A

Changes in other amino acid that fully or partially restores protein function

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16
Q

suppressor mutations

A

Occur at sites different from the mutations they suppress

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17
Q

Intragenic suppressor

A

A suppressor that occurs within the same gene as the original mutation, but at different sites

18
Q

Intergenic suppressor

A

At mRNA translation level

Each suppressor works on only one type of nonsense, missense, or frameshift mutation

19
Q

Nonsense suppressors

A

In redundant tRNA genes

Occurs by competition between release factor and suppressor tRNAs

20
Q

At which phase of the cell cycle do mutations occur?

21
Q

7 factors that effect mutation rate

A
  1. Spontaneous isomerization due to reversible proton shift
  2. Base analogs
  3. Genetic constitution of organism
  4. Repetitive nucleotides, cg islands, pyrimidine dinucleotides
  5. DNA polymerase proof-reading functions
  6. DNA repair
  7. Selection
22
Q

Base substitution

A

Enol OH can form H bond w/ incorrect partner

23
Q

Which nucleotide does G wobble base pair with?

24
Deamination of cytosine results in...
Uracil
25
What is a mutation hotspot?
5-methyl-CG regions
26
What is DNA methylation?
Addition of a methyl group to C and A
27
What uv range is absorbed by purines and pyrimidines?
254-260 nm
28
What is the cumulative effect?
A particular dose of radiation results in the same number of mutations whether it is received over a short or long period of time
29
What do x-rays do to DNA?
They break covalent bonds
30
What are base analogs?
5-methyluracil and 5-bromouracil. Analogs of thymine that change what it pairs to
31
What are 3 base-modifying agents?
Nitrous acids, hydroxylamine, and methylamine sulfonate
32
What is an intercalating agent?
Mutagen allowing for insertion
33
What is the ames test?
A test to screen for potential carcinogens using Salmonella typhimurium
34
What is the mutD gene?
A subunit of DNA polymerase III with proofreading functions
35
What is Xeroderma pigmentosum?
A disorder that occurs in homozygotes for a mutation in 1 of 9 repair genes
36
Where are retrovirus type transposons found?
Only in eukaryotes
37
What are insertion sequences?
The simplest transosable elements made up of a transposase gene and inverted repeats. They are randomly integrated.
38
What is a byproduct of IS insertion?
Small direct repeats
39
What are composite transposons?
Transposons that carry antibiotic resistance genes flanked by IS elements. Tranposition results from IS. They cause target site duplication.
40
What are noncomposite transposons?
Transposons that carry drug resistance genes but do not terminate with is elements but with repeated sequences. They cause target site duplication.
41
What are p-elements?
Transposons that make up 15% of the drosophila genome
42
What are LINEs?
Autonomous retrotransposons with functional transposition genes. 20% of the genome
43
What are SINEs?
Non-autonomous retrotransposons