Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences - PubMed (original) (raw)

Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences

Qing-Peng Kong et al. Am J Hum Genet. 2003 Sep.

Erratum in

Abstract

The now-emerging mitochondrial DNA (mtDNA) population genomics provides information for reconstructing a well-resolved mtDNA phylogeny and for discerning the phylogenetic status of the subcontinentally specific haplogroups. Although several major East Asian mtDNA haplogroups have been identified in studies elsewhere, some of the most basal haplogroups, as well as numerous minor subhaplogroups, were not yet determined or fully characterized. To fill the lacunae, we selected 48 mtDNAs from >2,000 samples across China for complete sequencing that cover virtually all (sub)haplogroups discernible to date in East Asia. This East Asian mtDNA phylogeny can henceforth serve as a solid basis for phylogeographic analyses of mtDNAs, as well as for studies of mitochondrial diseases in East and Southeast Asia.

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Figures

Figure 1

Figure 1

Phylogenetic tree of 48 East Asian mtDNA lineages, which were sampled from various regional Han populations (Yao et al. 2002_a_, 2003_a_), except for those with prefixes DW (Daur, from Inner Mongolia), EWK (Ewenki, from Inner Mongolia), Mg (Mongolian, from Inner Mongolia), and Miao (Miaozu, from Hunan). This tree incorporates the information drawn from previous reports (Derbeneva et al. ; Herrnstadt et al. ; Kivisild et al. , and references therein; Mishmar et al. 2003) by indicating the roots of several haplogroups from which those Asian sequences branch off. Also indicated are the Native American haplogroups A2, B2, C1, D1 (Bandelt et al., in press) and D2, D3 (Derbeneva et al. 2002), of which only C1 and D2 are found in Asia, too. The mutations (reconstructed most parsimoniously) on uninterrupted branches are listed (arbitrarily) in ascending order. Suffixes A, C, G, and T indicate transversion, “d” indicates a deletion, and a plus sign (+) indicates an insertion; the recurrent mutations are underlined. The reconstruction of the mutations at site 16519 and deletions of CA repeats around sites 522–523, which are known to be extremely variable, is tentative at best. Note that 2232+A, one of the specific mutations of haplogroup C4, was inadvertently scored as 2233+A in figure 1 of Kivisild et al. (2002). Further, the insertion defining haplogroup M7a1 is now scored as 5899+C.

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References

Electronic-Database Information

    1. GenBank, http://www.ncbi.nlm.nih.gov/Genbank/ (for the mtDNA complete sequence data [accession numbers AY255133–AY255180])

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