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Hypervariable sites in the mtDNA control region are mutational hotspots - PubMed

. 2000 Oct;67(4):1029-32.

doi: 10.1086/303092. Epub 2000 Aug 30.

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Hypervariable sites in the mtDNA control region are mutational hotspots

M Stoneking. Am J Hum Genet. 2000 Oct.

Abstract

Hypervariable sites in human mtDNA are readily identified in evolutionary studies and are usually assumed to represent mutational hotspots. Recently, an alternative hypothesis was proposed that holds that hypervariable sites may instead reflect ancient mtDNA mutations that have been "shuffled" among different lineages via recombination. These hypotheses can be tested by examining the evolutionary rates for sites at which new mtDNA mutations are observed; if hypervariable sites are mutational hotspots, then newly arisen mtDNA mutations should occur preferentially at hypervariable sites. Results of this study show that both germline and somatic mtDNA mutations occur preferentially at hypervariable sites, which supports the view that hypervariable sites are indeed mutational hotspots.

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Figures

Figure 1
Figure 1

Frequency distribution of inferred evolutionary rates (Meyer et al. 1999) for all sites in HV1 and HV2 and for sites at which germline, tumor, and heteroplasmic mutations were observed.

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References

    1. Anderson S, Bankier AT, Barrell BG, de Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457–465 - PubMed
    1. Awadalla P, Eyre-Walker A, Smith JM (1999) Linkage disequilibrium and recombination in hominid mitochondrial DNA. Science 286:2524–2525 - PubMed
    1. ——— (2000) Questioning evidence for recombination in human mitochondrial DNA. Science 288:1931 - PubMed
    1. Bendall KE, Macaulay VA, Baker JR, Sykes BC (1996) Heteroplasmic point mutations in the human mtDNA control region. Am J Hum Genet 59:1276–1287 - PMC - PubMed
    1. Bendall KE, Macaulay VA, Sykes BC (1997) Variable levels of a heteroplasmic point mutation in individuals' hair roots. Am J Hum Genet 61:1303–1308 - PMC - PubMed

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