LIFESCI 3 Chapter Notes - Chapter 12.1: Wild Type, Glutamine, Frameshift Mutation
Document Summary
Mutation: change in a dna sequence that is propagated through cellular generations. Mutations of one or a few base pairs usually result from errors in replication or. Mutations spanning large sections of dna are typically due to chromosomal rearrangements from errant recombination. Mutation in gene product loss of function or gain of function. Mutation that destroys active site truncated protein or disrupt regulation of gene expression. Gain of function: increase affinity of enzyme for substrate, remove regulatory portion of protein, increase gene expression. Mutations that duplicate entire genes new proteins with different functions. Mutations new species diversity for evolution. A point mutation can alter one amino acid. Point mutation: change in a single base pair. Transition mutation: exchange of a purine-pyrimidine base pair for the other purine- pyrimidine base pair. Easier for polymerase to accommodate more common than. Transversion mutation: replacement of a purine-pyrimidine base pair with a pyrimidine- transversion purine base pair.
