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somatic mutation
everything but germ cells, do NOT divide
transition
purine → purine, pyrimidine → pyrimidine
transversion
purine → pyrimidine, pyrimidine → purine
insertions and deletions lead to…
frameshift mutations
fragile-x chromosome
fragile site on the long arm due to expanding repeats
missense
amino acid becomes a different amino acid
nonsense
amino acid becomes a STOP codon
silent
codon becomes a synonymous codon
forward
wild type → mutant type
reverse
mutant type → wild type
suppressor
hides or suppresses the effect of another mutation
intragenic suppressor
first and second mutation happen in the same gene
intergenic suppressor
second mutation occurs in a different gene than the first
neutral
no changes in function
gain-of-function
a new function is developed from the mutation
loss-of-function
a function is lost from the mutation
conditional
mutation only occurs under certain conditions
lethal
mutation kills the organism
tautomeric shifts
tautomers(other forms of purines and pyrimidines) and wobble (nonstandard) base pairing leads to replication error; proofreading activity must miss it
strand slippage can cause
insertions and deletions
depurination
loss of purine from nucleotide (called an apurinic site), DNA polymerase usually adds an A which leads to permanent mutation
deamination
amino acid group is removed and alters DNA bases
what forms thymine dimers and increases mutation rates
UV and radiation
mismatch repair
mismatched bases and other DNA lesions are corrected
what happens during mismatch repair?
enzymes cut out a section of a new strand and replace with new nucleotides