GEN-3000 Lecture Notes - Lecture 14: Open Reading Frame, Missense Mutation, Nonsense Mutation
Document Summary
Open reading frame (orf)-everything between start and stop codon auguga. Mutation-inherited change in genetic information-either in daughter cells or in individuals. Mutations are the source of all genetic information. Most mutations are bad-hence the cellular machinery to prevent them. However, some of the changes are good because they allow us to adapt and evolve. Somatic mutations: arise in somatic (non-sex) cells-passed to daughter cells by mitosis. Humans have 10^14 cells- if a mutation occurs in 1 in 1 million cell divisions-most are harmless but this is the biological basis for cancer. Germ line mutations: arise in cells that make gametes- passed to future generations. What type of change: base/base pair substitution-point mutation-alteration of a single nucleotide; when one nucleotide is altered, the base of the corresponding nucleotide on other strand is also impacted. Transversion -purine for pyrimidine: insertion/deletions-most frequent form of mutation. Can cause frameshift mutations in coding region of proteins.
