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 journalArticle

203 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

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