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Sato, Takehiro ; Adachi, Noboru ; Kimura, Ryosuke ; Hosomichi, Kazuyoshi ; Yoneda, Minoru ; Oota, Hiroki ; Tajima, Atsushi ; Toyoda, Atsushi ; Kanazawa-Kiriyama, Hideaki ; Matsumae, Hiromi ; Koganebuchi, Kae ; Shimizu, K Kentaro ; Shinoda, Ken-ichi ; Hanihara, Tsunehiko ; Weber, Andrzej ; Kato, Hirofumi ; Ishida, Hajime
概要:
Recent studies on paleogenomics have reported some Paleolithic and Neolithic genomes that have provided new insights int
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o 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 migrant 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 migrants 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 approximately 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 approximately 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.
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| 2.
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Koganebuchi, Kae ; Sato, Kimitoshi ; Fujii, Kiyotaka ; Kumabe, Toshihiro ; Haneji, Kuniaki ; Toma, Takashi ; Ishida, Hajime ; Joh, Keiichiro ; Soejima, Hidenobu ; Mano, Shuhei ; Ogawa, Motoyuki ; Oota, Hiroki
概要:
Background:Ring finger protein 213 (RNF213) is a susceptibility gene of moyamoya disease (MMD). A previous case–control
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study and a family analysis demonstrated a strong association of the East Asian-specific variant, R4810K (rs112735431), with MMD. Our aim is to uncover evolutionary history of R4810K in East Asian populations.\nMethods:The RNF213 locus of 24 MMD patients in Japan were sequenced using targeted-capture sequencing. Based on the sequence data, we conducted population genetic analysis and estimated the age of R4810K using coalescent simulation.\nResults:The diversity of the RNF213 gene was higher in Africans than non-Africans, which can be explained by bottleneck effect of the out-of-Africa migration. Coalescent simulation showed that the risk variant was born in East Asia 14,500–5100 years ago and came to the Japanese archipelago afterward, probably in the period when the known migration based on archaeological evidences occurred.\nConclusions:Although clinical data show that the symptoms varies, all sequences harboring the risk allele are almost identical with a small number of exceptions, suggesting the MMD phenotypes are unaffected by the variants of this gene and rather would be more affected by environmental factors.
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Matsunami, Masatoshi ; Koganebuchi, Kae ; Imamura, Minako ; Ishida, Hajime ; Kimura, Ryosuke ; Maeda, Shiro
概要:
The Ryukyu Archipelago is located in the southwest of the Japanese islands and is composed of dozens of islands, grouped
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into the Miyako Islands, Yaeyama Islands, and Okinawa Islands. Based on the results of principal component analysis on genome-wide single-nucleotide polymorphisms, genetic differentiation was observed among the island groups of the Ryukyu Archipelago. However, a detailed population structure analysis of the Ryukyu Archipelago has not yet been completed. We obtained genomic DNA samples from 1,240 individuals living in the Miyako Islands, and we genotyped 665,326 single-nucleotide polymorphisms to infer population history within the Miyako Islands, including Miyakojima, Irabu, and Ikema islands. The haplotype-based analysis showed that populations in the Miyako Islands were divided into three subpopulations located on Miyakojima northeast, Miyakojima southwest, and Irabu/Ikema. The results of haplotype sharing and the D statistics analyses showed that the Irabu/Ikema subpopulation received gene flows different from those of the Miyakojima subpopulations, which may be related with the historically attested immigration during the Gusuku period (900 − 500 BP). A coalescent-based demographic inference suggests that the Irabu/Ikema population firstly split away from the ancestral Ryukyu population about 41 generations ago, followed by a split of the Miyako southwest population from the ancestral Ryukyu population (about 16 generations ago), and the differentiation of the ancestral Ryukyu population into two populations (Miyako northeast and Okinawajima populations) about seven generations ago. Such genetic information is useful for explaining the population history of modern Miyako people and must be taken into account when performing disease association studies.
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Gakuhari, Takashi ; Nakagome, Shigeki ; Rasmussen, Simon ; Allentoft, Morten E. ; Sato, Takehiro ; Korneliussen, Thorfinn ; Chuinneagain, Blanaid Ni ; Matsumae, Hiromi ; Koganebuchi, Kae ; Schmidt, Ryan ; Mizushima, Souichiro ; Kondo, Osamu ; Shigehara, Nobuo ; Yoneda, Minoru ; Kimura, Ryosuke ; Ishida, Hajime ; Masuyama, Tadayuki ; Yamada, Yasuhiro ; Tajima, Atsushi ; Shibata, Hiroki ; Toyoda, Atsushi ; Tsurumoto, Toshiyuki ; Wakebe, Tetsuaki ; Shitara, Hiromi ; Hanihara, Tsunehiko ; Willerslev, Eske ; Sikora, Martin ; Oota, Hiroki
概要:
Anatomically modern humans reached East Asia more than 40,000 years ago. However, key questions still remain unanswered
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with regard to the route(s) and the number of wave(s) in the dispersal into East Eurasia. Ancient genomes at the edge of the region may elucidate a more detailed picture of the peopling of East Eurasia. Here, we analyze the whole-genome sequence of a 2,500-year-old individual (IK002) from the main-island of Japan that is characterized with a typical Jomon culture. The phylogenetic analyses support multiple waves of migration, with IK002 forming a basal lineage to the East and Northeast Asian genomes examined, likely representing some of the earliest-wave migrants who went north from Southeast Asia to East Asia. Furthermore, IK002 shows strong genetic affinity with the indigenous Taiwan aborigines, which may support a coastal route of the Jomon-ancestry migration. This study highlights the power of ancient genomics to provide new insights into the complex history of human migration into East Eurasia.
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Gakuhari, Takashi ; Nakagome, Shigeki ; Rasmussen, Simon ; Allentoft, Morten E. ; Sato, Takehiro ; Korneliussen, Thorfinn ; Chuinneagain, Blanaid Ni ; Matsumae, Hiromi ; Koganebuchi, Kae ; Schmidt, Ryan ; Mizushima, Souichiro ; Kondo, Osamu ; Shigehara, Nobuo ; Yoneda, Minoru ; Kimura, Ryosuke ; Ishida, Hajime ; Masuyama, Tadayuki ; Yamada, Yasuhiro ; Tajima, Atsushi ; Shibata, Hiroki ; Toyoda, Atsushi ; Tsurumoto, Toshiyuki ; Wakebe, Tetsuaki ; Shitara, Hiromi ; Hanihara, Tsunehiko ; Willerslev, Eske ; Sikora, Martin ; Oota, Hiroki
概要:
Anatomically modern humans reached East Asia more than 40,000 years ago. However, key questions still remain unanswered
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with regard to the route(s) and the number of wave(s) in the dispersal into East Eurasia. Ancient genomes at the edge of the region may elucidate a more detailed picture of the peopling of East Eurasia. Here, we analyze the whole-genome sequence of a 2,500-year-old individual (IK002) from the main-island of Japan that is characterized with a typical Jomon culture. The phylogenetic analyses support multiple waves of migration, with IK002 forming a basal lineage to the East and Northeast Asian genomes examined, likely representing some of the earliest-wave migrants who went north from Southeast Asia to East Asia. Furthermore, IK002 shows strong genetic affinity with the indigenous Taiwan aborigines, which may support a coastal route of the Jomon-ancestry migration. This study highlights the power of ancient genomics to provide new insights into the complex history of human migration into East Eurasia.
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