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Evolution and genomic population genetics of genes related to human mental activity

Research Project

Project/Area Number 16H04821
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Evolutionary biology
Research InstitutionThe Graduate University for Advanced Studies

Principal Investigator

SATTA Yoko  総合研究大学院大学, 先導科学研究科, 教授 (20222010)

Co-Investigator(Kenkyū-buntansha) 早川 敏之  九州大学, 基幹教育院, 准教授 (80418681)
Research Collaborator Fujito T Naoko  
Takahata Naoyuki  
Project Period (FY) 2016-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥17,290,000 (Direct Cost: ¥13,300,000、Indirect Cost: ¥3,990,000)
Fiscal Year 2018: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2017: ¥7,020,000 (Direct Cost: ¥5,400,000、Indirect Cost: ¥1,620,000)
Fiscal Year 2016: ¥5,720,000 (Direct Cost: ¥4,400,000、Indirect Cost: ¥1,320,000)
Keywords統合失調症関連遺伝子群 / 脳機能 / 人類進化 / 正の自然選択 / 祖先型・派生型SNP / リスク型・非リスク型SNP / 環境適応 / 社会構造の変化 / 統合失調症 / リスク型と非リスク型 / 統合失調症関連遺伝子座 / DNA多型解析 / リスク型SNP / 祖先型及び派生型SNP / 出アフリカ / 自然選択 / 頻度分布
Outline of Final Research Achievements

It is known that many disease-related SNPs (risk SNPs) in humans are ancestral, shared by non-human primates, implying that human-specific environmental or social changes would be a trigger of the onset of SNP-related diseases. To examine this hypothesis, we studied linkage disequilibrium (LD) surrounding target SNPs, a signal of positive selection on ancestral and derived SNPs and estimated the divergence time of a derived allele group. A recent large-scale association study has identified 128 schizophrenia-related SNPs. Of these, 66 derived SNPs in East Asia showed strong LD blocks. Our newly developed statistical test revealed significant signals of ongoing positive selection at 15 SNPs and the most recent common ancestor of a derived allele group at a half of the SNPs occurred no earlier than 50,000 years ago. This age of positively selected alleles at each target SNP coincides with the time of drastic changes in human brain activities that became evident in archaeological remains.

Academic Significance and Societal Importance of the Research Achievements

現生人類は30万年ほど前にアフリカ大陸で誕生後、およそ5~8万年前に全世界へとその生息域を広げた。これに伴い、洞窟の壁画、遺跡から発掘される装飾品や石器などに見られるようにヒトは文化や技術の面で大きな発展を遂げた。この文化的・技術的な発展にはヒトの脳機能の亢進がともなっていることは想像に難くない。統合失調症は認知や思考の障害であり、その発症に関わる遺伝子は、そのようなヒトの脳機能の亢進に関わると考えられる。そこで本研究では、最近、大規模関連解析で同定された統合失調症に関連する128個のSNPを対象に、ヒトの脳機能の亢進に関与したと思われる遺伝子を検出し、その適応的役割を明らかにする。

Report

(4 results)
  • 2018 Annual Research Report   Final Research Report ( PDF )
  • 2017 Annual Research Report
  • 2016 Annual Research Report
  • Research Products

    (20 results)

All 2019 2018 2017 2016 Other

All Int'l Joint Research (1 results) Journal Article (5 results) (of which Peer Reviewed: 5 results,  Open Access: 5 results) Presentation (14 results) (of which Int'l Joint Research: 6 results,  Invited: 2 results)

  • [Int'l Joint Research] SUNY at Buffalo,(米国)

    • Related Report
      2018 Annual Research Report
  • [Journal Article] A new inference method for detecting an ongoing selective sweep2018

    • Author(s)
      Fujito Naoko T.、Satta Yoko、Hayakawa Toshiyuki、Takahata Naoyuki
    • Journal Title

      Genes & Genetic Systems

      Volume: 93 Issue: 4 Pages: 149-161

    • DOI

      10.1266/ggs.18-00008

    • NAID

      130007503899

    • ISSN
      1341-7568, 1880-5779
    • Year and Date
      2018-08-01
    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Positive selection on schizophrenia-associated ST8SIA2 gene in post-glacial Asia2018

    • Author(s)
      Fujito Naoko T.、Satta Yoko、Hane Masaya、Matsui Atsushi、Yashima Kenta、Kitajima Ken、Sato Chihiro、Takahata Naoyuki、Hayakawa Toshiyuki
    • Journal Title

      PLOS ONE

      Volume: 13 Issue: 7 Pages: e0200278-e0200278

    • DOI

      10.1371/journal.pone.0200278

    • NAID

      120006576452

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Nonequilibrium Neutral Theory for Hitchhikers2018

    • Author(s)
      Satta Yoko、Fujito Naoko T、Takahata Naoyuki
    • Journal Title

      Molecular Biology and Evolution

      Volume: 35 Issue: 6 Pages: 1362-1365

    • DOI

      10.1093/molbev/msy093

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Complex Haplotypes of GSTM1 Gene Deletions Harbor Signatures of a Selective Sweep in East Asian Populations2018

    • Author(s)
      Saitou M.、Satta Y.、Gokcumen O.
    • Journal Title

      G3: Genes|Genomes|Genetics

      Volume: 8 Issue: 9 Pages: 2953-2966

    • DOI

      10.1534/g3.118.200462

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Non-equilibrium neutral theory for hitchhikers2018

    • Author(s)
      Yoko Satta, Naoko Fujito, Naoyuki Takahata
    • Journal Title

      Molecular Biology and Evolution

      Volume: -

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Presentation] Detecting incomplete selective sweeps during modern human evolution2019

    • Author(s)
      Satta Y
    • Organizer
      SMBE2019
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Population genetics of Schizophrenia related genes2018

    • Author(s)
      Satta Y
    • Organizer
      ISEGB, Taipai Taiwan
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] A new inference method for detecting an ongoing selection2018

    • Author(s)
      Satta Y
    • Organizer
      遺伝研研究集会「理論分子進化学の新機軸」
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] A new inference method for ongoing selective sweep.2018

    • Author(s)
      Fujito, T. N., Satta, Y., Hayakawa, T., and Takahata, N.
    • Organizer
      SMBE2018
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 精神疾患関連遺伝子 ST8SIA2にみる現生人類における社会環境と遺伝子相互作用2018

    • Author(s)
      寺原匡弘、藤戸尚子、手島康介、高畑尚之、颯田葉子 、早川敏之
    • Organizer
      第20回日本進化学会
    • Related Report
      2018 Annual Research Report
  • [Presentation] 精神疾患関連遺伝子 ST8SIA2にみる現生人類における社会環境と遺伝子相互作用2018

    • Author(s)
      寺原匡弘、藤戸尚子、手島康介、高畑尚之、颯田葉子 、早川敏之
    • Organizer
      第90回日本遺伝学会
    • Related Report
      2018 Annual Research Report
  • [Presentation] ST8SIA2から見たアジアにおける新人と旧人の集団間交雑2018

    • Author(s)
      寺原匡弘、藤戸尚子、手島康介、高畑尚之、颯田葉子 、早川敏之
    • Organizer
      第90回日本遺伝学会
    • Related Report
      2018 Annual Research Report
  • [Presentation] Adaptive evolution of mental activity-related STX gene in the out-of-Africa migration2017

    • Author(s)
      Fujito N, Satta Y, Hane M, Matsui A, Yashima K, Kitajima K, Sato C, Takahata N, Hayakawa T
    • Organizer
      The biology of genomes,
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Adaptive evolution of mental activity-related STX gene in the out-of-Africa migration.2017

    • Author(s)
      Fujito N, Satta Y, Hane M, Matsui A, Yashima K, Kitajima K, Sato C, Takahata N, Hayakawa T
    • Organizer
      Society for Molecular Biology and Evolution Meeting 2017
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Adaptive evolution of mental activity-related STX gene in the out-of-Africa migration2017

    • Author(s)
      Fujito N, Satta Y, Hane M, Matsui A, Yashima K, Kitajima K, Sato C, Takahata N, Hayakawa T:
    • Organizer
      International Symposium on Evolutionary Genomics and Bioinformatics (ISEGB) 2017
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 現生人類での精神活動関連遺伝子の進化:シアル酸転移酵素STXの低活性化による東アジア集団での適応2017

    • Author(s)
      藤戸尚子、颯田葉子、羽根正弥、松井淳、八島健太、北島健、佐藤ちひろ、高畑尚之、早川敏之
    • Organizer
      日本進化学会第19回大会
    • Related Report
      2017 Annual Research Report
  • [Presentation] “Risk conversion” hypothesis in human evolution.2016

    • Author(s)
      Fujito N, Hayakawa T, Takahata N, Satta Y
    • Organizer
      ISEGB 2016
    • Place of Presentation
      Garden Villa, Kaohsiung, Taiwan
    • Year and Date
      2016-11-23
    • Related Report
      2016 Annual Research Report
  • [Presentation] 出アフリカと精神疾患:シアル酸転移酵素STXの低活性化による適応2016

    • Author(s)
      藤戸尚子、颯田葉子、羽根正弥、松井淳、八島健太、北島健、佐藤ちひろ、高畑尚之、早川敏之
    • Organizer
      第88回遺伝学会三島大会
    • Place of Presentation
      日本大学国際関係学部 三島駅北口校舎、静岡県三島市
    • Year and Date
      2016-09-07
    • Related Report
      2016 Annual Research Report
  • [Presentation] Spread of reduced activity of STX promoter in modern humans2016

    • Author(s)
      Fujito N, Satta Y, Hane M, Matsui A,Kitajima K, Sato C,Hayakawa T
    • Organizer
      SMBE 2016
    • Place of Presentation
      Gold Coast, Queensland Australia
    • Year and Date
      2016-07-03
    • Related Report
      2016 Annual Research Report

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Published: 2016-04-21   Modified: 2020-03-30  

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