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Neuroscience > Molecular Basis of Mutation > Flashcards

Molecular Basis of Mutation Flashcards

1
Q

Ada enzyme

A

E. coli enzyme that is involved in the direct repair of alkylation mutations

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2
Q

AP endonuclease

A

Enzyme involved in base excision repair

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3
Q

DNA glycosylase

A

Enzyme that cleaves the \beta-N-glycosidic bond between a

base and the sugar component of a nucleotide as part of the base excision and mismatch repair processes

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4
Q

DNA photolyase

A

Bacterial enzyme involved in repair of base dimers

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5
Q

DNA repair

A

Biochemical processes that correct mutations arising from replication errors & effects of mutagenic agents

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6
Q

Excision repair

A

DNA repair process that corrects various types of DNA damage by excising & re-synthesizing a region of polynucleotide

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7
Q

MGMT

A

Enzyme involved in direct repair of alkylation mutations

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8
Q

Mismatch repair

A

DNA repair process that corrects mismatched nucleotide pairs by replacing incorrect nucleotide in daughter polynucleotide

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9
Q

Nonhomologous end-joining

A

Name for double-strand break repair process

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10
Q

5-bromouracil (5-bU)

A

Base analog that can cause mutations by replacing T in a DNA

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11
Q

(6–4) lesion

A

Dimer between two adjacent pyrimidine bases in a polynucleotide,
formed by ultraviolet irradiation

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12
Q

Alkylating agent

A

Mutagen that acts by adding alkyl groups to nucleotide bases.

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13
Q

AP (apurinic/apyrimidinic) site

A

Position in DNA where base component of nucleotide is missing

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14
Q

Base analog

A

Compound whose structural similarity to a base in DNA enables it to act as a mutagen

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15
Q

Baseless site

A

Position in DNA where base component of nucleotide is missing

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16
Q

Cyclobutyl dimer

A

Dimer between two adjacent pyrimidine bases in a polynucleotide, formed by UV irridation

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17
Q

Deaminating agent

A

Mutagen that acts by removi

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18
Q

Why is DNA repair important?

A

Preserving composition of the genome as DNA is constantly being damaged

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19
Q

Alagille syndrome

A

Type of haploinsufficiency on gene for CD339 protein. Causes heart and liver problems.

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20
Q

CD339 protein

A

Involved in cell to cell signalling during embryo development.
Mutation on one causes alagille syndrome

21
Q

Deletion mutation

A

Mutation caused by deletion of 1 or more base pairs from a DNA sequence

22
Q

Frameshift mutation

A

Due to insertion/deletion of a base pairs changing frame of translation

23
Q

Insertion mutation

A

Mutation that arises by insertion of 1 or more base pairs into a DNA sequence

24
Q

Inversion

A

Mutation involving excision of a portion of DNA followed by reinsertion in same place but in reverse orientation

25
Q

Nonsense mutation

A

Alteration in nucletide sequence that changes triplet coding for amino acid into a termination codon

26
Q

nonsynonymous mutation

A

Conversion of codon for 1 amino acid into a codon for a 2nd amino acid

27
Q

Point mutation

A

Due to single base pair change in DNA

28
Q

Readthrough mutation

A

Change of stop codon into amino acid codon, so readthrough

29
Q

Second site reversion

A

Second mutation that reverses effect of previous mutation in same gene without restoring original nucleotide sequence

30
Q

Silent mutation

A

Change in DNA sequence with no effect on expression/functioning of gene/gene product

31
Q

Synonymous mutation

A

Change of codon into second codon that specifies same amino acid

32
Q

Transition

A

Point mutation that replaces a base with same type of base (purine/pyramidine)

33
Q

Transversion

A

Point mutation involving purine replaced by pyramidine or vice versa

34
Q

Aneuploid

A

Diploid chromosome set missing one chromosome

35
Q

Carrier

A

Individual who is heterozygotic for an inherited disease, but does not show phenotype due to normal gene masking effects of mutated gene

36
Q

Haploinsufficiency

A

Inactivation of 1 of a pair of gene resulting in change of phenotype of mutant organism

37
Q

Monosomy

A

Presence of single copy of pair of chromosomes in normally diploid nucleus

38
Q

Philadelphia chromosome

A

Abnormal chromosome due to translocation between chromosomes 9 and 22, a common cause of chronic myeloid leukaemia.

39
Q

Trisomy

A

Presence of 3 copies of a chromosome in a nucleus that is otherwise diploid.

40
Q

Direct repair

A

Enzyme comes in and directly repairs damaged DNA

41
Q

Excision repair

A

Can repair UV damage, etc. Area around damage is removed and replaced by resynthesized DNA

42
Q

Mismatch repair

A

Can repair base pair mistakes, etc. Area around damage is removed and replaced by resynthesized DNA

43
Q

Nonhomologous end joining

A

Clear cut in DNA causing strands to come part. due to radiation or chemicals.

44
Q

ADA enzyme

A

Enzyme in E.Coli which directly repairs DNA damaged by alkylation in position 4 of T and position 6 of G

45
Q

MGMT enzyme

A

Enzyme in humans, which directly repairs DNA damaged by alkylation at position 6 of G

46
Q

Molecular cloning

A

Cutting, joining and propagating recombinant DNA

47
Q

True or False? Factor Xa is a human clotting factor of great therapeutic value to those who suffer from clotting disorders. To Maintain its biological activity it must be glycosylated (sugar groups must be added). It can be manufactured at high volume using bacteria as host.

A

False
The protein requires post-translational modification which cannot be done by bacterial hosts therefore the protein must be made by over-expressing in mammalian cells.

48
Q

Ligation

A

Joining of two DNA strands or other molecules by a phosphate ester linkage.

49
Q

Non-coding DNA

A

Introns
Spacer DNA
Regulatory DNA
Repetitive DNA sequences

Neuroscience (22 decks)

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