Drake, John W. Laboratory of Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina.
Last reviewed:November 2016
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- Genome or ploidy mutations
- Chromosome mutations
- Gene mutations
- Cause and prevention
- Future research
- Related Primary Literature
- Additional Reading
An abrupt, heritable change in genes or chromosomes manifested by changes in the phenotype (appearance) of an organism. The study of mutation has long occupied a central position in genetics. Mutations (Fig. 1) are the ultimate sources of variability upon which evolution acts, despite being random changes that are far more likely to harm than to improve a complicated and highly evolved organism. Laboratory reconstructions have shown that rapidly mutating microbial populations overtake slowly mutating populations when the two are mixed and placed in a new environment to which neither is fully adapted. Mutation has consistently been the most telling probe into the nature of the gene, and the understanding of most aspects of biology has benefited from studies of the properties of mutant organisms. Mutation is also an important component of disease, either causing it directly (for example, through birth defects) or predisposing humans to a vast array of disorders that together constitute a substantial fraction of illnesses. Finally, deliberate selection of mutant plants and animals for economic or aesthetic purposes has long been practiced and has grown into an important aspect of genetics. With advances in molecular genetics, it is now possible to construct specific mutations at will, rather than merely selecting among an array of random mutations for the infrequent useful ones. See also: Breeding (animal); Breeding (plant); Chromosome; Disease; Gene; Genetics
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