Phylogeographic Differentiation of Mitochondrial DNA in Han Chinese

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.

Ethnic derivation of the Ainu inferred from ancient mitochondrial DNA data

“…Frequencies of mtDNA haplogroups are inferred from published data as follows: Hokkaido Jomon (Adachi et al, 2011); Okhotsk (Sato et al, 2009); Modern Ainu (Tajima et al, 2004);.Mainland Japanese (Maruyama et al, 2003); Ryukyu Islanders (Sekiguchi et al, 2008); Koreans (Lee et al, 2006); Han Chinese (Xu & Hu, 2015; Yao et al, 2002);.Nivkhi, Udegey, Negidal (Starikovskaya et al, 2005); Ulchi, Even (Sukernik et al, 2012); Koryak, Itel'men (Schurr et al, 1999). All populations except for the Edo Ainu, Okhotsk, and.…”

“…Mainland Japanese (Maruyama et al, 2003); Ryukyu Islanders (Sekiguchi et al, 2008); Koreans (Lee et al, 2006); Han Chinese (Xu & Hu, 2015; Yao et al, 2002);.…”

“…and K.S. To clarify the biological relationships between the Edo Ainu and other populations, their haplogroup frequencies were compared with those of 14 ancient and modern‐day East Asian and Siberian populations obtained from previously published data (Adachi et al, 2011; Lee et al, 2006; Maruyama, Minaguchi, & Saitou, 2003; Sato et al, 2009; Schurr, Sukernik, Starikovskaya, & Wallace, 1999; Sekiguchi et al, 2008; Starikovskaya, Sukernik, Schurr, Kogelnik, & Wallace, 1998; Starikovskaya et al, 2005; Sukernik et al, 2012; Tajima et al, 2004; Xu & Hu, 2015; Yao, Kong, Bandelt, Kivisild, & Zhang, 2002). The approximate locations of these populations are shown in Figure 1.…”

Revisiting the role of the Himalayas in peopling Nepal: insights from mitochondrial genomes

“…The principle component analysis (PCA) was conducted based on the East Eurasian haplogroup frequencies as described previously 40 (Supplementary Table S2, Supplementary Material online). Genetic distances (Table 2) were estimated by using the package Arlequin 3.11.…”

Ancient DNA from nomads in 2500-year-old archeological sites of Pengyang, China

“…We found six haplotypes from haplogroups C, D4 and M10 (Table 1). Haplogroup D4 has a high distribution frequency (8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22).3%) in northern Asians 7,8 and eastern Asians. 9 Haplogroup C has a very high distribution frequency (15.9-67.2%) in Siberia, 7 but a low frequency in China (3.5%).…”