High direct estimate of the mutation rate in the mitochondrial genome of Caenorhabditis elegans

D. R. Denver, K. Morris, M. Lynch, L. L. Vassilieva, W. K. Thomas

Research output: Contribution to journalArticlepeer-review

206 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2342-2344
Number of pages3
JournalScience
Volume289
Issue number5488
DOIs
StatePublished - Sep 29 2000
Externally publishedYes

ASJC Scopus subject areas

  • General

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