RT Journal
A1 Tanaka, Masashi
A1 Cabrera, Vicente M.
A1 González, Ana M.
A1 Larruga, José M.
A1 Takeyasu, Takeshi
A1 Fuku, Noriyuki
A1 Guo, Li-Jun
A1 Hirose, Raita
A1 Fujita, Yasunori
A1 Kurata, Miyuki
A1 Shinoda, Ken-ichi
A1 Umetsu, Kazuo
A1 Yamada, Yoshiji
A1 Oshida, Yoshiharu
A1 Sato, Yuzo
A1 Hattori, Nobutaka
A1 Mizuno, Yoshikuni
A1 Arai, Yasumichi
A1 Hirose, Nobuyoshi
A1 Ohta, Shigeo
A1 Ogawa, Osamu
A1 Tanaka, Yasushi
A1 Kawamori, Ryuzo
A1 Shamoto-Nagai, Masayo
A1 Maruyama, Wakako
A1 Shimokata, Hiroshi
A1 Suzuki, Ryota
A1 Shimodaira, Hidetoshi
T1 Mitochondrial Genome Variation in Eastern Asia and the Peopling of Japan
JF Genome Research 
JO Genome Research 
YR 2004 
FD October 01 
VO 14 
IS 10a 
SP 1832 
OP 1850 
DO 10.1101/gr.2286304 
UL http://genome.cshlp.org/content/14/10a/1832.abstract 
AB 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.