Direct estimation of the mitochondrial DNA mutation rate in Drosophila melanogaster.

PLoS Biology
Cathy Haag-LiautardPeter D Keightley

Abstract

Mitochondrial DNA (mtDNA) variants are widely used in evolutionary genetics as markers for population history and to estimate divergence times among taxa. Inferences of species history are generally based on phylogenetic comparisons, which assume that molecular evolution is clock-like. Between-species comparisons have also been used to estimate the mutation rate, using sites that are thought to evolve neutrally. We directly estimated the mtDNA mutation rate by scanning the mitochondrial genome of Drosophila melanogaster lines that had undergone approximately 200 generations of spontaneous mutation accumulation (MA). We detected a total of 28 point mutations and eight insertion-deletion (indel) mutations, yielding an estimate for the single-nucleotide mutation rate of 6.2 x 10(-8) per site per fly generation. Most mutations were heteroplasmic within a line, and their frequency distribution suggests that the effective number of mitochondrial genomes transmitted per female per generation is about 30. We observed repeated occurrences of some indel mutations, suggesting that indel mutational hotspots are common. Among the point mutations, there is a large excess of G-->A mutations on the major strand (the sense strand for the majori...Continue Reading

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Jun 1, 2013·The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences·John TowerYuanyue Sun
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Datasets Mentioned

BETA
U37541

Methods Mentioned

BETA
PCRs
PCR

Software Mentioned

Biotage assays
CodonCode Aligner

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