Discovery Genetics - The History and Future of Spontaneous Mutation Research.

ABSTRACT: Historically, spontaneous mutations in mice have served as valuable models of heritable human diseases, contributing substantially to our understanding of both disease mechanisms and basic biological pathways. While advances in molecular technologies have improved our ability to create mouse models of human disease through targeted mutagenesis and transgenesis, spontaneous mutations continue to provide valuable research tools for discovery of novel genes and functions. In addition, the genetic defects caused by spontaneous mutations are molecularly similar to mutations in the human genome and, therefore often produce phenotypes that more closely resemble those characteristic of human disease than do genetically engineered mutations. Due to the rarity with which spontaneous mutations arise

SUBMITTER: Davisson MT 

PROVIDER: S-EPMC4215558 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature