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Population genomics of Jomon: elucidating adaptive evolution in ancient hunters and gatherers and its legacy in modern populations

Research Project

Project/Area Number 23K23974
Project/Area Number (Other) 22H02711 (2022-2023)
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeMulti-year Fund (2024)
Single-year Grants (2022-2023)
Section一般
Review Section Basic Section 45060:Applied anthropology-related
Research InstitutionKanazawa University

Principal Investigator

Nakagome Shigeki  金沢大学, 古代文明・文化資源学研究所, 客員准教授 (40625208)

Co-Investigator(Kenkyū-buntansha) 山本 玲  京都大学, 高等研究院, 特定拠点准教授 (00581191)
覚張 隆史  金沢大学, 古代文明・文化資源学研究所, 准教授 (70749530)
辻村 太郎  京都大学, 高等研究院, 特定講師 (90741893)
Project Period (FY) 2024-04-01 – 2025-03-31
Project Status Completed (Fiscal Year 2024)
Budget Amount *help
¥14,170,000 (Direct Cost: ¥10,900,000、Indirect Cost: ¥3,270,000)
Fiscal Year 2024: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2023: ¥6,760,000 (Direct Cost: ¥5,200,000、Indirect Cost: ¥1,560,000)
Fiscal Year 2022: ¥6,370,000 (Direct Cost: ¥4,900,000、Indirect Cost: ¥1,470,000)
Keywords縄文祖先 / 古代DNA / 集団遺伝学 / 自然選択 / 現代日本人集団の構造化 / 遺伝的遺産 / BMI / バイオバンク・ジャパン / 集団構造化 / パレオゲノミクス / 狩猟採集民 / 環境適応 / 縄文人 / 適応進化 / 骨密度 / Pigmentation / 全ゲノムimputation / パレオゲノム
Outline of Research at the Start

本研究では、縄文人集団の全ゲノム解析から、農耕が始まる以前の古代狩猟採集民がもっていたユニークな生物学的特徴に迫る。ヒトは、その進化の大部分を狩猟採取民として過ごしてきた。それにも関わらず、狩猟採集民がどのような適応進化を遂げ、どのような形質を獲得してきたかはほとんど分かっていない。1万年以上かけて独自の文化を育んできた縄文人は、その格好のモデルといえる。本研究では、考古学・人類学 ・集団遺伝学の学際的アプローチを駆使して、古代狩猟採集民の遺伝学的基盤を解明する。

Outline of Final Research Achievements

By applying whole-genome imputation to low-coverage Jomon genomes, we reconstructed high-quality diploid genotype data. We then identified signatures of natural selection in genomic regions associated with bone mineral density and skin or hair pigmentation. Furthermore, by integrating ancient genomes with large-scale genomic data from approximately 250,000 modern Japanese individuals, we uncovered substantial variation in the proportion of Jomon ancestry among individuals, which strongly contributes to population stratification in modern Japanese. We also found a significant association between Jomon ancestry and higher BMI. These findings provide critical insights into the adaptive evolution of the Jomon people and their lasting genetic legacy in contemporary Japanese populations.

Academic Significance and Societal Importance of the Research Achievements

本研究は、低カバレッジ古代ゲノムへの全ゲノムインピュテーションを通じて縄文人の高精度な遺伝子型を再構築し、自然選択の痕跡および現代日本人への遺伝的遺産を明らかにした点で、人類学および人類遺伝学における学術的貢献が大きい。特に、骨格形成やエネルギー代謝関連形質と縄文人祖先成分の関連性は、現代日本人におけるBMIや生活習慣病リスクの進化的基盤を示唆し、疾患予測や個別化医療への応用可能性という社会的意義も有する。

Report

(4 results)
  • 2024 Annual Research Report   Final Research Report ( PDF )
  • 2023 Annual Research Report
  • 2022 Annual Research Report
  • Research Products

    (11 results)

All 2024 2023 Other

All Int'l Joint Research (2 results) Journal Article (3 results) (of which Int'l Joint Research: 3 results,  Peer Reviewed: 3 results,  Open Access: 3 results) Presentation (5 results) (of which Invited: 4 results) Book (1 results)

  • [Int'l Joint Research] Trinity College Dublin(アイルランド)

    • Related Report
      2023 Annual Research Report
  • [Int'l Joint Research] Trinity College Dublin(アイルランド)

    • Related Report
      2022 Annual Research Report
  • [Journal Article] Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations2024

    • Author(s)
      Yamamoto Kenichi,,,Gakuhari Takashi,,,Nakagome Shigeki, Okada Yukinori
    • Journal Title

      Nature Communications

      Volume: 15 Issue: 1 Pages: 1-15

    • DOI

      10.1038/s41467-024-54052-0

    • Related Report
      2024 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Genomic imputation of ancient Asian populations contrasts local adaptation in pre- and post-agricultural Japan2024

    • Author(s)
      Cooke N.P., Murray M., Cassidy L.M., Mattiangeli V., Okazaki K., Kasai K., Gakuhari T., Bradley D.G., Nakagome S.
    • Journal Title

      iScience

      Volume: 27 Issue: 6 Pages: 110050-110050

    • DOI

      10.1016/j.isci.2024.110050

    • Related Report
      2023 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Genomic insights into a tripartite ancestry in the Southern Ryukyu Islands2023

    • Author(s)
      Cooke Niall P.、Mattiangeli Valeria、Cassidy Lara M.、Okazaki Kenji、Kasai Kenji、Bradley Daniel G.、Gakuhari Takashi、Nakagome Shigeki
    • Journal Title

      Evolutionary Human Sciences

      Volume: 5 Pages: 1-9

    • DOI

      10.1017/ehs.2023.18

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] Paleogenomic time-travel to Japan: Insights into demography, selection, and pathogen loads2024

    • Author(s)
      Shigeki Nakagome
    • Organizer
      International Symposium for Paleogenomics
    • Related Report
      2024 Annual Research Report
    • Invited
  • [Presentation] パレオゲノミクスから探る 現代日本人集団の歴史2024

    • Author(s)
      中込 滋樹、山本 賢一、覚張 隆史、岡田 随象
    • Organizer
      第78回 日本人類学会大会
    • Related Report
      2024 Annual Research Report
  • [Presentation] Tracing genetic origins and legacy of Japanese populations: Insights from ancient genomics in insular East Asia2023

    • Author(s)
      Shigeki Nakagome
    • Organizer
      Seminar at University College London
    • Related Report
      2023 Annual Research Report
    • Invited
  • [Presentation] Genomic insights into human past and health from a study of insular East Asia2023

    • Author(s)
      Shigeki Nakagome
    • Organizer
      Trinity Translationao Medicine Institute Annual Conference
    • Related Report
      2023 Annual Research Report
    • Invited
  • [Presentation] Applicability of ancient genomics to decoding the legacy of human past in insular East Asia2023

    • Author(s)
      Shigeki Nakagome
    • Organizer
      革新ゲノム情報学セミナー(金沢大学医学部)
    • Related Report
      2023 Annual Research Report
    • Invited
  • [Book] パレオゲノミクスで紐解く日本人集団の系譜2023

    • Author(s)
      中込滋樹
    • Total Pages
      7
    • Publisher
      羊土社
    • Related Report
      2022 Annual Research Report

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Published: 2022-04-19   Modified: 2026-01-16  

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