Mutation and Repair of DNA Flashcards
substitution
changes from a single base pair to another
indel mutation
deletion or insertion of one or several base pairs
tautomeric shifts
A;C base paring in rare imino form
G;T base pairing in rare enol form
movement of H atoms
transitition
pyrimidine-pyrimidine or purine-purine
transversion
pyrimidine-purine or vice versa
silent mutation
no change in amino acid
neutral mutations
function is not affected - change to similar a.a
mis-sense mutation
results in different a.a
non-sense mutation
results in a stop codon
open reading frame (ORF)
nucleotides flanked by a start codon and one of the stop codons
frameshift
insertion or deletion of 1 or 2 base pairs alters the reading frame of the gene distal to the site of mutation
factors influencing spontaneous mutations
accuracy of DNA replication machinery
efficiency of mechanisms
degree of exposure to mutagenic agents
UV light
excites nucleotides
X-rays
ionization
Ionizing radiation
breaks chromosomes
UV irradiation
hydrolysis of cytosine to cytosine hydrate (causes mis-pairing)
cross-linking of thymine to form thymine dimers (blocks DNA replication)
Chemical mutagens
alkylating agents 5-bromouracil proflavin nitrous acid hydroxylating agent
alkylating agents
mustard gas, ethyl methane sulfonate, ethyel ethan sulfonate
donate alkyl group - error prone DNA repair process