Chapter 12 Flashcards

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1
Q

DNA mutation

A

An inheritable change in DNA sequence

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2
Q

The change of a single base pair is known as

A

point mutation

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3
Q

where one purine-pyrimidine base pair is exchanged for another purine-pyrimidine pair (C≡G becomes T=A or vice versa)

A

transition mutation

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4
Q

where a purine-pyrimidine base pair is replaced with a pyrimidine-purine base
pair, or vice versa (ex: C≡G becomes either G≡C or A=T).

A

transversion mutation

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5
Q

does not change any amino acid in the protein (due to the redundancy of codons).

A

silent mutation

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6
Q

a point mutation generating a change in a single amino acid. [example: glutamate
(GAA) to glutamine (CAA) exchange]

A

missense mutation

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7
Q

induces instead of an amino acid codon, a stop codon. This generates a truncated
protein.

A

nonsense mutation

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8
Q

Mutations are incorporated in how many steps

A

two-step process

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9
Q

A mutation caused by insertion of one or more extra bases between successive bases in DNA.

A

insertion mutation

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10
Q

A mutation resulting from the deletion of one or more nucleotides from a gene or chromosome. Compare insertion mutation.

A

deletion mutation

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11
Q

A collective term for insertion and deletion mutations

A

indels

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12
Q

A mutation caused by insertion or deletion of one or more paired nucleotides, changing the reading frame of codons during protein synthesis; the polypeptide product has an altered amino acid sequence beginning at the mutated codon.

A

frameshift mutation

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13
Q

The duplication of a large tract of DNA, leading to an increased dosage of genes in the affected area.

A

duplication mutation

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14
Q

A mutation that results from the inversion of a large segment of DNA in a chromosome.

A

inversion mutation

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15
Q

A mutation that results from the exchange of large segments of DNA between nonhomologous chromosomes.

A

translocation mutation

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16
Q

causes of indels

A
  1. abberant recombination
  2. template slippage by dna polymerase
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17
Q

The enzymatic removal of amino groups from biomolecules such as amino acids or nucleotides

A

deamination

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18
Q

A position in an intact DNA backbone that is missing the base. Also called an AP (apurinic or apyrimidinic) site.

A

abasic site

19
Q

A mutation in a gene that reverses a previous mutation. Also called a back mutation. A true reversion restores the original gene sequence; a second-site reversion restores the functionality (phenotype)

A

reversion mutation

20
Q

the addition of an alkyl group to atoms in the
nucleotide bases or to the phosphodiester bond

A

alkylation

21
Q

A covalently joined dimer of two adjacent pyrimidine residues in DNA, induced by absorption of UV light; most commonly derived from two adjacent thymines

A

pyrimidine dimer

22
Q

a cross-linking agent. It alkylates DNA at
the N7 position of purines

A

cisplatin

23
Q

effects of cisplatin

A

can form either intra-strand or inter-strand cross-links that are hard to repair and usually stop the
replication fork, ultimately leading to cell death.

24
Q

a complex biomolecule isolated from a bacterium.

A

bleomycin

25
Q

effects of bleomycin

A

binds an atom of iron and activates molecular
oxygen to form hydroxyl radicals that damage
DNA. It typically does so by binding to DNA.

26
Q

A structure formed by the condensation of two double-bonded C5=C6 atoms on adjacent pyrimidine bases in DNA.

A

cyclobutane ring

27
Q

can be used to damage dna such as uv light

A

ionizing radiation

28
Q

An enzymatic system for repairing base mismatches (non-Watson-Crick pairs) in DNA.

A

mismatch repair (mmr)

29
Q

An enzyme of E. coli that methylates adenine residues in the palindromic sequence GATC on both strands of the DNA. Transient hemimethylation of a DNA duplex following replication distinguishes the parental strand from the daughter strand.

A

dam methylase

30
Q

scans the DNA: using
ATP it moves bidirectional on the two directions of
the strand, forming a DNA loop. The complex
scans the DNA until it finds a hemimethylated
GATC sequence

A

MutS-MutL complex

31
Q

which unwinds DNA towards the mismatch

A

Helicase II

32
Q

The repair of a cyclobutane pyrimidine dimer by electron transfer from a DNA photolyase

A

photoreactivation

33
Q

A flavoprotein enzyme that becomes an electron donor when activated by visible light. DNA photolyases can repair pyrimidine dimers and other lesions caused by ultraviolet light

A

dna photolyase

34
Q

A DNA repair pathway that involves excision of a damaged base by DNA glycosylase, followed by cleavage of the DNA backbone adjacent to the site by an AP endonuclease. Nick translation, DNA polymerization, and ligation complete the repair.

A

Base Excision Repair (BER)

35
Q

An enzyme that hydrolyzes the N-β-glycosyl bond between a nucleotide base and pentose, creating an abasic site in the DNA.

A

dna glycosylase

36
Q

Enzymes that cleave the DNA backbone at an AP (apurinic or apyrimidinic; abasic) site as part of the base excision repair pathway

A

ap endonucleases

37
Q

a DNA polymerase synthesizes a new DNA strand by elongating the 3’-OH and by doing so displaces the old 5’-end of the nicked strand.

A

long patch repair

38
Q

Pol β inserts a single
nucleotide and then a ligase completes the work.

A

short patch repair

39
Q

A DNA repair pathway that involves excinuclease-catalyzed cleavage of the phosphodiester bond on either side of a bulky DNA lesion such as a pyrimidine dimer or base adduct, followed by removal of the segment containing the lesion, then DNA polymerization and ligation to fill the gap

A

nucleotide excision repair

40
Q

An enzyme that cleaves a phosphodiester bond in the DNA on either side of a bulky lesion in DNA. Also called an excision endonuclease.

A

excinuclease

41
Q

scans the DNA looking for damage during nucleotide excision repair

A

UvrA2 -UvrB

42
Q

A nucleotide excision repair pathway in eukaryotes that is triggered when RNA polymerase encounters a lesion in the DNA and stalls.

A

transcription-coupled repair (TCR)

43
Q

A pathway for replicating DNA across lesions that occur in unwound DNA at the replication fork. The pathway uses a TLS polymerase that lacks a proofreading exonuclease and has a less-selective active site. Although this polymerase may introduce a mutation, it allows replication to proceed.

A

translesion synthesis (TLS)

44
Q
A