Tanaka Masashi, Cabrera Vicente M, González Ana M, Larruga José M, Takeyasu Takeshi, Fuku Noriyuki, Guo Li-Jun, Hirose Raita, Fujita Yasunori, Kurata Miyuki, Shinoda Ken-ichi, Umetsu Kazuo, Yamada Yoshiji, Oshida Yoshiharu, Sato Yuzo, Hattori Nobutaka, Mizuno Yoshikuni, Arai Yasumichi, Hirose Nobuyoshi, Ohta Shigeo, Ogawa Osamu, Tanaka Yasushi, Kawamori Ryuzo, Shamoto-Nagai Masayo, Maruyama Wakako, Shimokata Hiroshi, Suzuki Ryota, Shimodaira Hidetoshi
Department of Gene Therapy, Gifu International Institute of Biotechnology, Kakamigahara, Gifu 504-0838, Japan. mtanaka@giib
Genome Res. 2004 Oct;14(10A):1832-50. doi: 10.1101/gr.2286304.
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.
为构建东亚线粒体DNA（mtDNA）系统发育树，我们对672名日本人的线粒体全基因组进行了测序（http://www.giib.or.jp/mtsnp/index_e.html）。这使我们能够对942条亚洲序列进行系统发育分析。日本的数据产生了新的分支和亚分支。基于这一明确的系统发育树，我们对4713条亚洲线粒体部分序列进行了分类，模糊度小于10%。应用群体和系统地理学方法，我们利用这些序列来阐明日本人口构成这一有争议的问题。基于群体的比较证实，现代日本人在基因上与北亚人群，尤其是韩国人关系最为密切，这一发现与绳纹时代之后大陆基因流入日本的观点一致。这种系统地理学方法揭示了旧石器时代日本人的高度分化。根据琉球人和阿伊努人中基本的M和N谱系的存在，检测到了古代的南北迁移。与西藏的直接联系，与Y染色体的情况类似，也很明显。此外，在日本某些衍生分支中发现的最高多样性表明，日本可能处于向亚洲大陆迁徙扩张的区域。目前提出的所有解释日本人口构成的理论似乎都不足以完全容纳这一复杂情况。
