Exam 3 - Mutations Flashcards

1
Q

What are mutations?

A

Stable, heritable changes in the base sequence of DNA

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1
Q

T/F
Mutations can only be spontaneous OR induced.

A

F, can be both.

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2
Q

Where and how often do spontaneous mutations occur?

A

The natural environment, infrequently and randomly

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3
Q

What is the general rate of mutation?

A

between 1 in 10,000 and 1 and 1trillion
(low due to cellular repair mechanisms)

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4
Q

Spontaneous mutations can occur from: (3)

A

base substitutions
removal or addition of nucleotides
transposable elements

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5
Q

What is the most common type of spontaneous mutation?

A

Base substitutions

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6
Q

How do base substitutions occur?

A

From mistakes during DNA synthesis, incorrect base is incorporated into DNA

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7
Q

Point mutations def.

A

One base pair is changed

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8
Q

What are the (3) effects/types of base substitutions?

A

Silent mutations
Missense mutation
nonsense mutation

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9
Q

Silent mutations def.

A

Result from a nucleotide change that generates a codon which still specifies the wild type amino acid

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10
Q

Missense mutation def.

A

amino acid substitution mutation

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11
Q

Nonsense mutation def.

A

mutation that changes an amino acid codon to a stop codon

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12
Q

Base substitutions in the third position of a codon would most often cause what type of mutation?

A

Missense
Asense
Nonsense
Silent (a majority of the time, not all)

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13
Q

Generally, what does the removal or addition of nucleotides do to the genetic code?

A

Shifts the translational reading frame (codons)

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14
Q

Frameshift mutation def.

A

occurs when shifting of the codons occurs; affects all amino acids downstream from addition or deletion

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15
Q

Transposable elements def.

A

special DNA segments that can move spontaneously from gene to gene (transposons)

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16
Q

Transposition can be either _____________ or _____________

A

conservative; replicative

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17
Q

Conservative transposition

A

Transposon is completely removed from one area of a chromosome and reinsterted elsewhere (cut+paste)

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18
Q

Replicative transposition

A

A copy of the transposon is inserted elsewhere in the chromosome (copy+paste)

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19
Q

T/F
Mutations are essential for understanding genetics

A

True

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20
Q

Induced mutations def.

A

Mutations that are intentionally produced

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21
Q

Induced mutations can be done via (3)

A

Chemical mutagens
Transposition
Radiation

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22
Q

Chemical mutagens (4)

A

Nitrous acid
Alkylating agents
Base analogs
Intercalating agents

23
Q

Nitrous acid func.

A

Converts amino group to a keto group
»cytosine to uracil

24
Alkylating agents func.
Alters hydrogen bonding of bases >>nitrosoguanine
25
Base analog def.
Chemicals that are structually similar to the nitrogenous bases but have slightly altered base pairing properties
26
Intercalating agents def
Molecules that insert themselves between adjacent bases >>ethidium bromide
27
What is it called when transposons are inserted into cells to cause mutations?
Induced transposition
28
What are the two types of radiation?
Ultraviolet light X-rays
29
Ultraviolet light mutation func.
causes covalent bonding between adjacent thymine bases
30
Ultraviolet light ultimately forms what?
thymine dimers
31
Thymine dimers func.
distorts DNA
32
X-ray mutation func.
causes breaks in sugar-phosphate backbone of DNA >>breaks in both strands are often lethal
33
Mechanisms of DNA repair (4)
Proofreading Mismatch Repair Nucleotide excision repair Photoreactivation
34
Proofreading
DNA polymerase removes an incorrectly added base and the correct base is added
35
Mismatch repair occurs in _______ organisms
most
36
Mismatch repair in gram negative bacteria does what?
Parent strand is methylated during DNA replication; the unmethylated daughter strand is scanned by mut proteins
37
Mut protein scanning process
Bind to incorrectly paired daughter strand sections recruit exonuclease to cut out mutated section DNA polymerase rebuilds removed section
38
Nucleotide excision repair actions
Exonuclease removes thymine dimer; DNA polymerase able to rebuild
39
Photoreactivation
Photolyase is activated by sunlight Binds to thymine dimers
40
photolyase binding to thymine dimers does what
breaks down dimer; allowing thymines to reform H-bonds with adenines
41
Gene transfer mechanisms (3)
DNA-mediated transformation Transduction Conjugation
42
Two events that occur in gene exchange
1) Donor DNA is transferred and accepted by recipient cell (Donor DNA is either transformed/Transducted/Conjugated) 2) Donor DNA is integrated into the recipient cell's chromosomes
43
Transformation func.
involves the transfer of naked DNA from the environment to the recipient cell--> naked DNA is integrated into recipient chromosome
44
Naked DNA that is integrated into a chromosome does what
Replaces the homologous gene on the chromosome of the recipient cell
45
Natural transformation occurs when bacterial cells are
competent
46
Competence def. (bio)
A condition where bacterial cells are capable of taking up and integrating larger fragments of DNA
47
When does competence occur in the cell growth phase?
Late log, early stationary phase
48
Artifical competence
ability to render cells artifically competent through electroporation
49
Transduction def.
Bacterial DNA that is transferred from donor to recipient via a bacterial virus
50
Transduction process
Phage infects a new bacterial cell and inserts DNA into cell DNA is integrated and mis-matched pairs are repaired
51
Two types of transduction are
Generalized >>any gene of donor can be transferred Specialized >>only specific genes can be transferred
52
Specialized transduction
During excision phase of viral lysogenic cycle, part of the host cell DNA is incorporated into virus
53
Conjugation
mediated by F plasmid
54
F factor
Plasmid that codes for fertility amongst cells (F factor)