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The mutation rate of the mitochondrial control region has been widely used to calibrate human population history. However, estimates of the mutation rate in this region have spanned two orders of magnitude. To readdress this rate, we sequenced the mtDNA control region in 272 individuals, who were related by a total of 705 mtDNA transmission events, from 26 large Icelandic pedigrees. Three base substitutions were observed, and the mutation rate across the two hypervariable regions was estimated to be 3/705 =.0043 per generation (95% confidence interval [CI].00088-.013), or.32/site/1 million years (95% CI.065-.97). This study is substantially larger than others published, which have directly assessed mtDNA mutation rates on the basis of pedigrees, and the estimated mutation rate is intermediate among those derived from pedigree-based studies. Our estimated rate remains higher than those based on phylogenetic comparisons. We discuss possible reasons for-and consequences of-this discrepancy. The present study also provides information on rates of insertion/deletion mutations, rates of heteroplasmy, and the reliability of maternal links in the Icelandic genealogy database.

Original publication

DOI

10.1086/302902

Type

Journal article

Journal

Am J Hum Genet

Publication Date

05/2000

Volume

66

Pages

1599 - 1609

Keywords

Base Sequence, Cytoplasm, DNA, Mitochondrial, Databases, Factual, Female, Gene Frequency, Humans, Iceland, Kinetics, Male, Molecular Sequence Data, Mothers, Mutagenesis, Mutagenesis, Insertional, Pedigree, Phylogeny, Point Mutation, Regulatory Sequences, Nucleic Acid, Sequence Deletion