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Who Are the Japanese? New DNA Study Shocks Scientists


Aterui 'Lord of Tamo' Mask
A mask depicting Aterui ‘Lord of Tamo’, a famous Emishi chief from the ancient Tohoku District in Japan. The Emishi people from north-east Asia have been identified as a possible third main ancestral group in Japan. Credit: © Avalon.red / Alamy Stock Photo, edited

By studying the genomes of more than 3,000 people across Japan, researchers have shed light on the population’s complex ancestry. The work may also pave the way for future precision medicine.

Researchers discovered that the genetic lineage of Japan’s population includes three ancestral groups, revising the previous understanding of just two. By using whole-genome sequencing of over 3,200 individuals from across Japan, the study identified significant genetic variations and ties to north-east Asia, particularly the Emishi people.

Genetic Diversity in Japan

A genetic study led by scientists from RIKEN’s Center for Integrative Medical Sciences has uncovered evidence that people in Japan descend from three ancestral groups.[1]

The findings, published recently in the journal Jomon Han Chinese Figurines

The clay figurine at the left, which was found in Japan, has been linked to the Jomon people, one of the most dominant ancestries on the southern, subtropical island of Okinawa, while people living in western Japan share more genetically with Han Chinese people, represented by the figurine on the right. Credit: Left: © Penta Springs Limited / Alamy Stock Photo; right: © cai liang / Alamy Stock Photo

Combing for Clues

Terao’s team arrived at their conclusions after sequencing the DOI: 10.1126/sciadv.adi8419

  • “Ancient genomics reveals tripartite origins of Japanese populations” by Niall P. Cooke, Valeria Mattiangeli, Lara M. Cassidy, Kenji Okazaki, Caroline A. Stokes, Shin Onbe, Satoshi Hatakeyama, Kenichi Machida, Kenji Kasai, Naoto Tomioka, Akihiko Matsumoto, Masafumi Ito, Yoshitaka Kojima, Daniel G. Bradley, Takashi Gakuhari and Shigeki Nakagome, 17 September 2021, Science Advances.
    DOI: 10.1126/sciadv.abh2419
  • “Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA” by Emilia Huerta-Sánchez, Xin Jin, Asan, Zhuoma Bianba, Benjamin M. Peter, Nicolas Vinckenbosch, Yu Liang, Xin Yi, Mingze He, Mehmet Somel, Peixiang Ni, Bo Wang, Xiaohua Ou, Huasang, Jiangbai Luosang, Zha Xi Ping Cuo, Kui Li, Guoyi Gao, Ye Yin, Wei Wang, Xiuqing Zhang, Xun Xu, Huanming Yang, Yingrui Li, Jian Wang, Jun Wang and Rasmus Nielsen, 2 July 2014, Nature.
    DOI: 10.1038/nature13408
  • “The major genetic risk factor for severe DOI: 10.1038/s41586-020-2818-3


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