Ch.19: Gene mutation, DNA repair, and recombination Flashcards

(36 cards)

1
Q

What are gene mutations?

A

molecular changes in the DNA sequence of a gene

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2
Q

What is a transition?

A

a change of a pyrimidine (C, T) to another pyrimidine (T, C) or a purine (A, G) to another purine (G, A)

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3
Q

What is a transversion?

A

a change of a pyrimidine (C, T) to a purine (A, G) or a purine (A, G) to a pyrimidine (C, T)

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4
Q

Silent Mutations are?

A

base substitutions that do not alter the amino acid sequence of the polypeptide due to the degeneracy of the genetic code

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5
Q

Missense mutations are?

A

base substitutions in which an amino acid change occurs

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6
Q

Nonsense mutations are?

A

base substitutions that change a normal codon to a stop codon

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7
Q

Frameshift mutations involve?

A

the addition or deletion of a number of nucleotides that is not divisible by three

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8
Q

What mutations are characterized by their differential ability to survive?

A

Deleterious mutations: decrease the chances of survival. The most extreme are lethal mutations.

Beneficial mutations: enhance the survival or reproductive success of an organism

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9
Q

What do suppressor mutations do?

A

reverse the phenotypic effects of another mutation

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10
Q

What does an intragenic suppressor mutant do?

A

the second mutant site is within the same gene as the first mutation

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11
Q

What does an intergenic suppressor mutant do?

A

the second mutant site is in a different gene from the first mutation

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12
Q

What are the two types that animal cells are classified as?

A

Germ-line cells: Cells that give rise to gametes such as eggs and sperm

Somatic cells: All other cells

(slide 17 has a good picture for this)

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13
Q

What does Tonr stand for?

A

T one resistance

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14
Q

What did the Lederberg bacteriophage T1 tonr experiment prove?

A

By placing random mutants on plates that contained T1 and one that didn’t, it showed that most cells were killed by T1; this showed that spontaneous mutants could occur that provided selective advantages

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15
Q

What are the 3 types of spontaneous mutations?

A
  • Depurination
  • Deamination
  • Tautomeric shift
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16
Q

What is Depurination? What mutations does it cause?

A

the removal of a purine (guanine or adenine) from the DNA forming an apurinic site; depurination of A or G can cause both transition and transversion mutants

17
Q

What is deamination? What mutations does it cause?

A

deamination of cytosine is the removal of an amino group from the cytosine base
- Base pairing causes the cytosine to be converted to a thymine which results in a C:G to T:A transition mutation
- deamination of 5-methylcytosine causes a C:G to T:A transition mutation

18
Q

What is a Tautomeric shift and the common stable forms? What mutations does it cause?

A

A tautomeric shift is a temporary change in base structure
-Tautomeric shifts cause both T:A to C:G and C:G to T:A transition mutations

  • The common, stable form of thymine and guanine is the keto form. Rarely, T and G convert to an enol form

-The common, stable form of adenine and cytosine is the amino form/ Rarely, A and C can convert to an imino form

19
Q

What does oxidative stress do?

A

Causes a G:C to T:A transversion mutation to counter transition mutation

20
Q

What are deamination agents?

A

replace amino groups
with keto groups (–NH2 to =O) ex. nitrous acid

-can change cytosine to uracil and adenine to hypoxanthine
- modified bases do not pair with the appropriate nucleotides in the daughter strand during DNA replication and mutations occur
-Uracil base pairs with adenine and hypoxanthine base pairs with cytosine

21
Q

What are alkylating agents? What mutations does it cause?

A

disrupt the appropriate pairing between nucleotides by alkylating bases within the DNA, ex. nitrogen mustards and ethyl methanesulfonate (EMS); cause both cause both G:C to A:T and T:A to C:G transition mutations

22
Q

What do deamination agents cause?

A

both C:G to T:A and A:T to G:C transition mutations

23
Q

What do intercalating agents cause?

A

frameshift mutations

24
Q

What do base analogues cause?

A

transition mutations

25
What does UV light cause and what mutations?
the formation of cross-linked thymine dimers and C:G to T:A transition mutations
26
What can allow covalent modifications of nucleotides to be reversed?
three specific enzymes
27
What does Photolyase do?
repairs thymine dimers (It splits the dimers restoring the DNA to its original condition using the energy of visible light for photoreactivation)
28
What does Alkyltransferase do?
repairs alkylated bases (It transfers the methyl or ethyl group from the base to a cysteine side chain within the alkyltransferase protein. This action permanently inactivates alkyltransferase)
29
What do base excision repair (BER) involve?
a category of enzymes known as DNA N-glycosylases that recognize an abnormal base and cleave the bond between it and the sugar in the DNA - can eliminate abnormal bases such as uracil, 3-methyladenine and 7-methylguanine depending on species
30
What does Nucleotide excision repair (NER) do?
repair many types of DNA damage: - Thymine dimers and chemically modified bases - Missing bases - Some types of crosslinks -NER is found in all prokaryotes and eukaryotes, however, its molecular mechanism is better understood in prokaryotes
31
What do Mismatch repair systems do?
recognize and correct base pair mismatches
32
What are the 2 systems that can repair DNA double-strand breaks?
homologous recombination repair (HRR): sister chromatids are genetically identical; can be an error-free repair mechanism nonhomologous end joining (NHE): repair may result in the deletion of a small region of the DNA.
33
What happens when a replicative DNA polymerase encounters a damaged translesion DNA region?
DNA polymerase is swapped for a TLS polymerase and the region is duplicated with error-prone replication
34
What happens in the Holliday model for homologous recombination?
a break occurs at the identical location of two chromatids that are aligned together
35
What happens in a double-strand break model?
a double-strand break creates a gap in the DNA of a single chromatid that must be repaired
36
What are the 2 ways gene conversion can occur?
-DNA mismatch repair (can convert one allele to another (branch migration)) -DNA gap repair synthesis (can convert one allele to another (uses double-strand break model))