High Direct Estimate of the Mutation Rate in the Mitochondrial Genome of Caenorhabditis elegans

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Science  29 Sep 2000:
Vol. 289, Issue 5488, pp. 2342-2344
DOI: 10.1126/science.289.5488.2342

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Mutations in the mitochondrial genome have been implicated in numerous human genetic disorders and offer important data for phylogenetic, forensic, and population genetic studies. Using a long-term series of Caenorhabditis elegans mutation accumulation lines, we performed a wide-scale screen for mutations in the mitochondrial genome that revealed a mutation rate that is two orders of magnitude higher than previous indirect estimates, a highly biased mutational spectrum, multiple mutations affecting coding function, as well as mutational hotspots at homopolymeric nucleotide stretches.

  • * Present address: Molecular and Cellular Biology Department, University of Arizona, Tucson, AZ 85721, USA.

  • To whom correspondence should be addressed. E-mail: thomaske{at}

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