Mitochondrial genome variation in Eastern Asia and the peopling of Japan

被引:407
作者
Tanaka, M [1 ]
Cabrera, VM
González, AM
Larruga, JM
Takeyasu, T
Fuku, N
Guo, LJ
Hirose, R
Fujita, Y
Kurata, M
Shinoda, K
Umetsu, K
Yamada, Y
Oshida, Y
Sato, Y
Hattori, N
Mizuno, Y
Arai, Y
Hirose, N
Ohta, S
Ogawa, O
Tanaka, Y
Kawamori, R
Shamoto-Nagai, M
Maruyama, W
Shimokata, H
Suzuki, R
Shimodaira, H
机构
[1] Gifu Int Inst Biotechnol, Dept Gene Therapy, Gifu 5040838, Japan
[2] Univ La Laguna, Fac Biol, Dept Genet, Tenerife 38271, Spain
[3] Nagoya Univ, Grad Sch Med, Dept Sports Med, Nagoya, Aichi 4648601, Japan
[4] Japan Sci & Technol Agcy, Kawaguchi, Saitama 3320012, Japan
[5] Natl Sci Museum, Dept Anthropol, Tokyo 1690073, Japan
[6] Yamagata Univ, Sch Med, Dept Forens Med, Yamagata 9908585, Japan
[7] Mie Univ, Dept Human Funct Genom, Life Sci Res Ctr, Tsu, Mie 5148507, Japan
[8] Juntendo Univ, Sch Med, Dept Neurol, Tokyo 1138421, Japan
[9] Juntendo Univ, Sch Med, Dept Med Metab & Endocrinol, Tokyo 1138421, Japan
[10] Keio Univ, Sch Med, Dept Geriatr Med, Tokyo 1608582, Japan
[11] Nihon Med Sch, Inst Gerontol, Dept Biochem & Cell Biol, Kawasaki, Kanagawa 2118533, Japan
[12] Natl Inst Longev Sci, Dept Epidemiol, Obu 4748522, Japan
[13] Natl Inst Longev Sci, Dept Basic Gerontol, Biochem & Metab Lab, Obu 4748522, Japan
[14] Tokyo Inst Technol, Dept Math & Comp Sci, Tokyo 1528552, Japan
关键词
D O I
10.1101/gr.2286304
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
To construct an East Asia mitochondrial DNA (mtDNA) phylogeny, we sequenced the complete mitochondrial genomes of 672 Japanese individuals (http://www.giib.or.jp/mtsnp/index-e.html). This allowed us to perform a phylogenetic analysis with a pool of 942 Asiatic sequences. New clades and subclades emerged from the Japanese data. On the basis of this unequivocal phylogeny, we classified 4713 Asian partial mitochondrial sequences, with <10% ambiguity. Applying population and phylogeographic methods, we used these sequences to shed light on the controversial issue of the peopling of Japan. Population-based comparisons confirmed that present-day Japanese have their closest genetic affinity to northern Asian populations, especially to Koreans, which finding is congruent with the proposed Continental gene flow to Japan after the Yayoi period. This phylogeographic approach unraveled a high degree of differentiation in Paleolithic Japanese. Ancient southern and northern migrations were detected based on the existence of basic M and N lineages in Ryukyuans and Ainu. Direct connections with Tibet, parallel to those found for the Y-chromosome, were also apparent. Furthermore, the highest diversity found in Japan for some derived clades suggests that Japan could be included in an area of migratory expansion to Continental Asia. All the theories that have been proposed up to now to explain the peopling of Japan seem insufficient to accommodate fully this complex picture.
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页码:1832 / 1850
页数:19
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