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.2002 Mar;70(3):635-51.
doi: 10.1086/338999. Epub 2002 Feb 8.

Phylogeographic differentiation of mitochondrial DNA in Han Chinese

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Phylogeographic differentiation of mitochondrial DNA in Han Chinese

Yong-Gang Yao et al. Am J Hum Genet.2002 Mar.

Abstract

To characterize the mitochondrial DNA (mtDNA) variation in Han Chinese from several provinces of China, we have sequenced the two hypervariable segments of the control region and the segment spanning nucleotide positions 10171-10659 of the coding region, and we have identified a number of specific coding-region mutations by direct sequencing or restriction-fragment-length-polymorphism tests. This allows us to define new haplogroups (clades of the mtDNA phylogeny) and to dissect the Han mtDNA pool on a phylogenetic basis, which is a prerequisite for any fine-grained phylogeographic analysis, the interpretation of ancient mtDNA, or future complete mtDNA sequencing efforts. Some of the haplogroups under study differ considerably in frequencies across different provinces. The southernmost provinces show more pronounced contrasts in their regional Han mtDNA pools than the central and northern provinces. These and other features of the geographical distribution of the mtDNA haplogroups observed in the Han Chinese make an initial Paleolithic colonization from south to north plausible but would suggest subsequent migration events in China that mainly proceeded from north to south and east to west. Lumping together all regional Han mtDNA pools into one fictive general mtDNA pool or choosing one or two regional Han populations to represent all Han Chinese is inappropriate for prehistoric considerations as well as for forensic purposes or medical disease studies.

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Figures

Figure 1
Figure 1
Geographic locations of the Han samples under study
Figure 2
Figure 2
Classification tree of the mtDNA haplogroups observed in Han Chinese. The diagnostic mutations considered here (relative to the revised CRS; Andrews et al. 1999) are indicated on the branches. Nucleotide changes are specified for transversions by suffixes, and “d” indicates deletion; mutations recurrent in this tree are underlined. The revised CRS differs from the root of haplogroup R by mutations at 73, 2706, 7028, 11719, and 14766 that are characteristic of HV or H and by seven private mutations at 263, 315+C, 750, 1438, 4769, 8860, and 15326 (Andrews et al. 1999).
Figure 3
Figure 3
PC map of the mtDNA data (with respect to the basal haplogroup profiles) of 13 regional Han samples.
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References

Electronic-Database Information

    1. GenBank Overview,http://www.ncbi.nlm.nih.gov/Genbank/GenbankOverview.html (for mtDNA control region data; accession numbers AY052834–AY053358)

References

    1. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147 - PubMed
    1. Bandelt H-J, Forster P, Röhl A (1999) Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol 16:37–48 - PubMed
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    1. Betty DJ, Chin-Atkins AN, Croft L, Sraml M, Easteal S (1996) Multiple independent origins of the COII/tRNALys intergenic 9-bp mtDNA deletion in aboriginal Australians. Am J Hum Genet 58:428–433 - PMC - PubMed

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