Researcher: Takehiro Sato, Noboru Adachi, Ryosuke Kimura, Kazuyoshi Hosomichi, Minoru Yoneda, Hiroki Oota, Atsushi Tajima, Atsushi Toyoda, Hideaki Kanzawa-Kiriyama, Hiromi Matsumae, Kae Koganebuchi, Kentaro K Shimizu, Ken-Ichi Shinoda, Tsunehiko Hanihara, Andrzej Weber, Hirofumi Kato, Hajime Ishida
Abstract: Recent studies on paleogenomics have reported some Paleolithic and Neolithic genomes that have provided new insights into the human population history in East and Northeast Asia. However, there remain some cases where more recent migration events need to be examined to elucidate the detailed formation process of local populations. Although the area around northern Japan is one of the regions archaeologically suggested to have been affected by migration waves after the Neolithic period, the genetic source of these migrations are still unclear. Thus, genomic data from such past immigrant populations would be highly informative to clarify the detailed formation process of local populations in this region. Here, we report the genome sequence of a 900-year-old adult female (NAT002) belonging to the prehistoric Okhotsk people, who have been considered to be the past immigrants to northern Japan after the Neolithic period. We found a close relationship between NAT002 and modern Lower Amur populations and past admixture events between the Amur, Jomon, and Kamchatka ancestries. The admixture dating suggested migration of Amur-related ancestry at c. 1,600 BP, which is compatible with the archaeological evidence regarding the settlement of the Okhotsk people. Our results also imply migration of Kamchatka-related ancestry at c. 2,000 BP. In addition, Human leukocyte antigen (HLA) typing detected the HLA-B*40 allele, which is reported to increase the risk of arthritis, suggesting the genetic vulnerability of NAT002 to hyperostosis, which was observed around her chest clavicle.