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ヤポネシア人の人口推定を中心とした巨大データ解析

Planned

Project AreaDeciphering Origin and Establishment of Japonesians mainly based on genome sequence data
Project/Area Number 18H05511
Research Category

Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)

Allocation TypeSingle-year Grants
Review Section Complex systems
Research InstitutionHokkaido University

Principal Investigator

長田 直樹  北海道大学, 情報科学研究院, 准教授 (70416270)

Co-Investigator(Kenkyū-buntansha) 五條堀 淳  総合研究大学院大学, 先導科学研究科, 講師 (00506800)
河合 洋介  国立研究開発法人国立国際医療研究センター, その他部局等, 上級研究員 (30435515)
藤本 明洋  東京大学, 大学院医学系研究科(医学部), 教授 (30525853)
Project Period (FY) 2018-06-29 – 2023-03-31
Project Status Granted (Fiscal Year 2021)
Budget Amount *help
¥49,140,000 (Direct Cost: ¥37,800,000、Indirect Cost: ¥11,340,000)
Fiscal Year 2022: ¥9,620,000 (Direct Cost: ¥7,400,000、Indirect Cost: ¥2,220,000)
Fiscal Year 2021: ¥9,620,000 (Direct Cost: ¥7,400,000、Indirect Cost: ¥2,220,000)
Fiscal Year 2020: ¥9,620,000 (Direct Cost: ¥7,400,000、Indirect Cost: ¥2,220,000)
Fiscal Year 2019: ¥9,620,000 (Direct Cost: ¥7,400,000、Indirect Cost: ¥2,220,000)
Fiscal Year 2018: ¥10,660,000 (Direct Cost: ¥8,200,000、Indirect Cost: ¥2,460,000)
Keywordsゲノム / 進化 / 日本人 / 集団遺伝学 / ヤポネシア人 / ゲノム配列 / 人口動態
Outline of Annual Research Achievements

本年度はおおむね研究計画に沿ったかたちで研究を遂行した.性染色体の進化における研究では,霊長類の性染色体ゲノム多様性から,雄に偏った移住の効果が示されることを確認し,論文として公表した.今後,本手法をヤポネシア人に適用し,性による移住の偏りを明らかにしていく.人口動態推定においては,ハプロタイプデータを用いて集団サイズと集団分化時期(ヤマト人内の分化およびヤマト人と現代韓国人の分化)の推定を行った.また,希少変異を用いて東アジア人集団間の関係性を調査し,その成果を論文として公表した.更に,短鎖次世代シークエンサーをデータからヒトゲノム中のマイクロサテライト変異の多様性を検出する新しい手法を開発し,正確性の検証などを行った.成果は論文として公表され,作成されたプログラムも無料で公開されている.今後,本手法を用いてヤポネシア人の遺伝的多様性を解析していく.
以上が当初の計画に沿った研究の進捗状況であるが,そのほかにも他研究班との共同研究を積極的に進めていった.ハツカネズミの全ゲノム解析においては,約98個体の全ゲノム配列を解析し,亜種間の遺伝的分化をグローバルな視点で解析した.また,公表済み全ゲノム配列を用いた古代・現代東アジア人集団の包括的な解析を行い,古代北シベリア人と縄文人との弱いつながり,渡来系弥生人が南方東アジア人集団よりも北方東アジア人集団により近縁であり現代韓国人よりもより北方的であったことなどを示した.

Current Status of Research Progress
Current Status of Research Progress

2: Research has progressed on the whole more than it was originally planned.

Reason

当初計画した内容について,論文での公表を含めて予定通りに進んでいる.また,他班との共同研究も順調に進行しており,おおむね順調に進展していると考えられる.

Strategy for Future Research Activity

昨年度に引き続き研究を行う.研究計画にしたがって,本研究計画は以下の4つの項目について進めていく.
(1)性染色体の進化様式について,ヤポネシア人および古代・現代東アジアについての解析を行い,コンピュータシミュレーション等の結果と比較しながら,男女の有効集団サイズの違いや移住率の違いについて明らかにする.(2)複数の古代人ゲノムの解析を行い,希少変異などの情報を用いながら,その遺伝的特徴を明らかにする.(3)マイクロサテライト座位におけるゲノム多型データを,本研究課題で新たに開発した手法を用いて利用し,ヤポネシア人の詳細な遺伝構造を明らかする.結果の妥当性について検証を行い,より詳細な遺伝構造の情報が得られるかどうかについて検討する.(4)ハプロタイプ共有情報を用いて集団の分岐時間や移住の解析を行う手法についての検討を行う.複数の古代人,大量の現代人ゲノムについて手法を適用し,ヤポネシア人の歴史を明らかにしていく.
以上の個別の目的に加え他の研究計画班,公募研究班との連携を広く進め,研究領域の発展に貢献する.具体的には現代人,古代人,動植物ゲノムの解析について共同研究を進めていく.

Report

(3 results)
  • 2020 Annual Research Report
  • 2019 Annual Research Report
  • 2018 Annual Research Report

Research Products

(93 results)

All 2021 2020 2019 2018 Other

All Int'l Joint Research (2 results) Journal Article (45 results) (of which Int'l Joint Research: 14 results,  Peer Reviewed: 36 results,  Open Access: 32 results) Presentation (42 results) (of which Int'l Joint Research: 13 results,  Invited: 22 results) Book (2 results) Remarks (1 results) Funded Workshop (1 results)

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

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research] Trinity Collage Dublin(アイルランド)

    • Related Report
      2018 Annual Research Report
  • [Journal Article] Exploring models of human migration to the Japanese archipelago using genome-wide genetic data2021

    • Author(s)
      OSADA NAOKI、KAWAI YOSUKE
    • Journal Title

      AS

      Volume: 129 Issue: 1 Pages: 45-58

    • DOI

      10.1537/ase.201215

    • NAID

      130008030483

    • ISSN
      0918-7960, 1348-8570
    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] House mouse Mus musculus dispersal in East Eurasia inferred from 98 newly determined complete mitochondrial genome sequences.2021

    • Author(s)
      Li Y, Fujiwara K, Osada N, Kawai Y, Takada T, Kryukov AP, Abe K, Yonekawa H, Shiroishi T, Moriwaki K, Saitou N, Suzuki H
    • Journal Title

      Heredity

      Volume: 126 Pages: 132-147

    • DOI

      10.1038/s41437-020-00364-y

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Genome-wide SNP data of Izumo and Makurazaki populations support inner-dual structure model for origin of Yamato people2021

    • Author(s)
      Jinam Timothy、Kawai Yosuke、Kamatani Yoichiro、Sonoda Shunro、Makisumi Kanro、Sameshima Hideya、Tokunaga Katsushi、Saitou Naruya
    • Journal Title

      Journal of Human Genetics

      Volume: -

    • DOI

      10.1038/s10038-020-00898-3

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Modern human DNA analyses with special reference to the inner dual-structure model of Yaponesian2021

    • Author(s)
      JINAM TIMOTHY A.、KAWAI YOSUKE、SAITOU NARUYA
    • Journal Title

      AS

      Volume: 129 Issue: 1 Pages: 3-11

    • DOI

      10.1537/ase.201217

    • NAID

      130008030443

    • ISSN
      0918-7960, 1348-8570
    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Testing sex-biased admixture origin of macaque species using autosomal and X-chromosomal genomic sequences2020

    • Author(s)
      Osada Naoki、Matsudaira Kazunari、Hamada Yuzuru、Malaivijitnond Suchinda
    • Journal Title

      Genome Biology and Evolution

      Volume: 13 Pages: 1-14

    • DOI

      10.1093/gbe/evaa209

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Identification of Characteristic Genomic Markers in Human Hepatoma HuH-7 and Huh7.5.1-8 Cell Lines2020

    • Author(s)
      Kawamoto M#, Yamaji T#, Saito K, Shirasago Y, Satomura K, Endo T, Fukasawa M, Hanada K, Osada N.
    • Journal Title

      Frontiers in Genetics

      Volume: 11 Pages: 546106-546106

    • DOI

      10.3389/fgene.2020.546106

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Comparative characterization of flavivirus production in two cell lines: Human hepatoma-derived Huh7.5.1-8 and African green monkey kidney-derived Vero2020

    • Author(s)
      Kyoko Saito, Masayoshi Fukasawa, Yoshitaka Shirasago, Ryosuke Suzuki, Naoki Osada, Toshiyuki Yamaji, Takaji Wakita, Eiji Konishi, Kentaro Hanada
    • Journal Title

      PLOS ONE

      Volume: 15

    • DOI

      10.1371/journal.pone.0232274

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Dysfunctional missense variant of OAT10/SLC22A13 decreases gout risk and serum uric acid levels.2020

    • Author(s)
      Higashino T, Morimoto K, Nakaoka H, Toyoda Y, Kawamura Y, Shimizu S, Nakamura T, Hosomichi K, Nakayama A, Ooyama K, Ooyama H, Shimizu T, Ueno M, Ito T, Tamura T, Naito M, Nakashima H, Kawaguchi M, Takao M, Kawai Y, Osada N, Ichida K, Yamamoto K, Suzuki H, Shinomiya N, Inoue I, Takada T, Matsuo H
    • Journal Title

      Ann Rheum Dis.

      Volume: 79(1) Pages: 164166-164166

    • DOI

      10.1136/annrheumdis-2019-216044

    • Related Report
      2020 Annual Research Report 2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Multiregional whole‐genome sequencing of hepatocellular carcinoma with nodule‐in‐nodule appearance reveals stepwise cancer evolution2020

    • Author(s)
      Takeda Haruhiko、Takai Atsushi、Kumagai Ken、Iguchi Eriko、Arasawa Soichi、Eso Yuji、Shimizu Takahiro、Ueda Yoshihide、Taura Kojiro、Uemoto Shinji、Kita Ryuichi、Haga Hironori、Marusawa Hiroyuki、Fujimoto Akihiro、Seno Hiroshi
    • Journal Title

      Journal of Pathology

      Volume: 252 Pages: 398-410

    • DOI

      10.1002/path.5533

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Aberrant (pro)renin receptor expression induces genomic instability in pancreatic ductal adenocarcinoma through upregulation of SMARCA5/SNF2H2020

    • Author(s)
      Shibayama,Y., Takahashi, K., Yamaguchi, H., Yasuda, J., Yamazaki, D., Rahman, A., Fujimori, T., Fujisawa, Y., Takai, S., Furukawa, T., Nakagawa, T., Ohsaki, H., Kobara, H., Wong, J.H., Masaki, T., Yuzawa, Y., Kiyomoto, H., Yachida, S., Fujimoto, A., Nishiyama, A.
    • Journal Title

      Communications Biology

      Volume: 3 Pages: 724-724

    • DOI

      10.1038/s42003-020-01434-x

    • NAID

      130008001357

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Whole genome sequencing analysis identifies recurrent structural alterations in esophageal squamous cell carcinoma2020

    • Author(s)
      Dutta Munmee、Nakagawa Hidewaki、Kato Hiroaki、Maejima Kazuhiro、Sasagawa Shota、Nakano Kaoru、Sasaki-Oku Aya、Fujimoto Akihiro、Mateos Ra?l Nicol?s、Patil Ashwini、Tanaka Hiroko、Miyano Satoru、Yasuda Takushi、Nakai Kenta、Fujita Masashi
    • Journal Title

      PeerJ

      Volume: 8

    • DOI

      10.7717/peerj.9294

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Evolutionary History of the Risk of SNPs for Diffuse-Type Gastric Cancer in the Japanese Population2020

    • Author(s)
      Iwasaki Risa L.、Ishiya Koji、Kanzawa-Kiriyama Hideaki、Kawai Yosuke、Gojobori Jun、Satta Yoko
    • Journal Title

      Genes

      Volume: 11 Pages: 775-775

    • DOI

      10.3390/genes11070775

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Do Genes Associated with Dyslexia of Chinese Characters Evolve Neutrally?2020

    • Author(s)
      Nishiyama Kumiko V.、Satta Yoko、Gojobori Jun
    • Journal Title

      Genes

      Volume: 11 Pages: 658-658

    • DOI

      10.3390/genes11060658

    • Related Report
      2020 Annual Research Report
  • [Journal Article] Classification of primary liver cancer with immunosuppression mechanisms and correlation with genomic alterations.2020

    • Author(s)
      Fujita M, Yamaguchi R, Hasegawa T, Shimada S, Arihiro K, Hayashi S, Maejima K, Nakano K, Fujimoto A, Ono A, Aikata H, Ueno M, Hayami S, Tanaka H, Miyano S, Yamaue H, Chayama K, Kakimi K, Tanaka S, Imoto S, Nakagawa H.
    • Journal Title

      EBioMedicine.

      Volume: 53 Pages: 102659-102659

    • DOI

      10.1016/j.ebiom.2020.102659

    • Related Report
      2020 Annual Research Report 2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Rare allele sharing in the East Asian2020

    • Author(s)
      Gojobori, J
    • Journal Title

      Archivio per l’Antropologia e la Etnologia

      Volume: CL

    • Related Report
      2020 Annual Research Report
  • [Journal Article] Comprehensive Analysis of Indels in Whole-genome Microsatellite Regions and Microsatellite Instability across 21 Cancer Types2020

    • Author(s)
      Fujimoto A*, Fujita M, Hasegawa T, Wong JH, Maejima K, Oku-Sasaki A, Nakano K, Shiraishi Y, Miyano S, Yamamoto G, Akagi K, Imoto S, and Nakagawa H
    • Journal Title

      Genome Res

      Volume: 30 Pages: 2020-2020

    • DOI

      10.1101/gr.255026.119

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Pan-cancer analysis of whole genomes2020

    • Author(s)
      The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium
    • Journal Title

      Nature

      Volume: 578 Pages: 82-93

    • DOI

      10.1038/s41586-020-1969-6

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Implications of HLA diversity among regions for bone marrow donor searches in Japan2020

    • Author(s)
      Hashimoto S, Nakajima F, Imanishi T, Kawai Y, Kato K, Kimura T, Miyata S, Takanashi M, Nishio M, Tokunaga K, Satake M
    • Journal Title

      HLA

      Volume: in press Pages: 24-42

    • DOI

      10.1111/tan.13881

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] 港川人のミトコンドリア DNA全塩基配列からわかること2020

    • Author(s)
      水野文月,五條堀淳
    • Journal Title

      学術の動向

      Volume: 25 Pages: 2-2

    • NAID

      130007865037

    • Related Report
      2019 Annual Research Report
  • [Journal Article] eVIDENCE: a practical variant filtering for low-frequency variants detection in cell-free DNA2019

    • Author(s)
      Mizuno Kei、Akamatsu Shusuke、Sumiyoshi Takayuki、Wong Jing Hao、Fujita Masashi et al.
    • Journal Title

      Sci Rep.

      Volume: 9 Pages: 15017-15017

    • DOI

      10.1038/s41598-019-51459-4

    • NAID

      120006734882

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Late Jomon male and female genome sequences from the Funadomari site in Hokkaido, Japan2019

    • Author(s)
      Kanzawa-Kiriyama Hideaki、Jinam Timothy A.、Kawai Yosuke、Sato Takehiro、Hosomichi Kazuyoshi、Tajima Atsushi、Adachi Noboru、Matsumura Hirofumi、Kryukov Kirill、Saitou Naruya、Shinoda Ken-Ichi
    • Journal Title

      AS

      Volume: 127 Issue: 2 Pages: 83-108

    • DOI

      10.1537/ase.190415

    • NAID

      130007696474

    • ISSN
      0918-7960, 1348-8570
    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] A key metabolic gene for recurrent freshwater colonization and radiation in fishes.2019

    • Author(s)
      Asano Ishikawa, Naoki Kabeya, Koki Ikeya, Ryo Kakioka, Jennifer N. Cech, Naoki Osada, Miguel C. Leal, Jun Inoue, Manabu Kume, Atsushi Toyoda, Ayumi Tezuka, Atsushi J. Nagano, Yo Y. Yamasaki, Yuto Suzuki, Tomoyuki Kokita, Hiroshi Takahashi, Kay Lucek, David Marques, Yusuke Takehana, Kiyoshi Naruse, Catherine L. Peichel, Ole Seehausen, Goro Yoshizaki, Jun Kitano, et al.
    • Journal Title

      Science

      Volume: 364 Issue: 6443 Pages: 886-889

    • DOI

      10.1126/science.aau5656

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Genetic diversity and population structure of Glossina morsitans morsitans in the active foci of human African trypanosomiasis in Zambia and Malawi2019

    • Author(s)
      Yukiko Nakamura, Junya Yamagishi, Kyoko Hayashida, Naoki Osada, Elisha Chatanga, Cornelius Mweempwa, Kalinga Chilongo, John Chisi, Jenelisa Musaya, Ryosuke Omori, Noboru Inoue, Boniface Namangala, Chihiro Sugimoto
    • Journal Title

      PLoS Neglected Tropical Diseases.

      Volume: 13

    • DOI

      10.1371/journal.pntd.0007568

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Achiasmy and sex chromosome evolution2019

    • Author(s)
      Kazuhiro Satomura, Naoki Osada, Toshinori Endo
    • Journal Title

      Ecological Genetics and Genomics

      Volume: 13 Pages: 1000046-1000046

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] 日本人ゲノム解析において集団差をどう考えるか2019

    • Author(s)
      河合洋介
    • Journal Title

      IBD Research

      Volume: 13 Pages: 31-34

    • Related Report
      2019 Annual Research Report
  • [Journal Article] 東アジアの人々のゲノム多様性2019

    • Author(s)
      徳永勝士,河合洋介
    • Journal Title

      腎臓内科・泌尿器科

      Volume: 10 Pages: 561-565

    • NAID

      40022102238

    • Related Report
      2019 Annual Research Report
  • [Journal Article] ヤポネシア人の歴史の解明が医学にもたらすもの2019

    • Author(s)
      長田直樹
    • Journal Title

      実験医学

      Volume: 37 Pages: 926-929

    • Related Report
      2018 Annual Research Report
  • [Journal Article] Clinical utility of androgen receptor gene aberrations in circulating cell-free DNA as a biomarker for treatment of castration-resistant prostate cancer2019

    • Author(s)
      Sumiyoshi Takayuki、Mizuno Kei、Yamasaki Toshinari、Miyazaki Yu、Makino Yuki、Okasho Kosuke、Li Xin、Utsunomiya Noriaki、Goto Takayuki、Kobayashi Takashi、Terada Naoki、Inoue Takahiro、Kamba Tomomi、Fujimoto Akihiro、Ogawa Osamu、Akamatsu Shusuke
    • Journal Title

      Sci Rep

      Volume: 9 Pages: 4030-4030

    • DOI

      10.1038/s41598-019-40719-y

    • NAID

      120006709427

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Late Jomon male and female genome sequences from the Funadomari site in Hokkaido, Japan2019

    • Author(s)
      Kanzawa-Kiriyama H, Jinam TA, Kawai Y, Sato T, Hosomichi K, Tajima A, Adachi N, Matsumura H, Kryukov K, Saitou N and Shinoda K
    • Journal Title

      Anthropological Science

      Volume: -

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.332019

    • Author(s)
      Hitomi, Y. Ueno, K. Kawai, Y. Nishida, N. , Umemura, T. et al
    • Journal Title

      Sci Rep.

      Volume: 9 Pages: 102-102

    • DOI

      10.1038/s41598-018-36490-1

    • NAID

      120007179055

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants.2019

    • Author(s)
      Hitomi Y, Nakatani K, Kojima K, Nishida N, Kawai Y, Kawashima M, Aiba Y, Nagasaki M, Nakamura M, Tokunaga K.
    • Journal Title

      Cell Mol Gastroenterol Hepatol.

      Volume: 7 Pages: 515-532

    • DOI

      10.1016/j.jcmgh.2018.11.006

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A Genome-wide Association Study Identifying RAP1A as a Novel Susceptibility Gene for Crohn’s Disease in Japanese Individuals2019

    • Author(s)
      Kakuta Yoichi、Kawai Yosuke、Naito Takeo、Hirano Atsushi、Umeno Junji、Fuyuno Yuta、Liu Zhenqiu、Li Dalin、Nakano Takeru、Izumiyama Yasuhiro、Ichikawa Ryo、Okamoto Daisuke、et al.
    • Journal Title

      J Crohns Colotis

      Volume: - Pages: 2019-2019

    • DOI

      10.1093/ecco-jcc/jjy197

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Novel endogenous simian retroviral integrations in Vero cells: implications for quality control of a human vaccine cell substrate2018

    • Author(s)
      Sakuma Chisato、Sekizuka Tsuyoshi、Kuroda Makoto、Kasai Fumio、Saito Kyoko、Ikeda Masaki、Yamaji Toshiyuki、Osada Naoki、Hanada Kentaro
    • Journal Title

      Scientific Reports

      Volume: 8 Pages: 644-644

    • DOI

      10.1038/s41598-017-18934-2

    • NAID

      120006401475

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Comprehensive phylogenomic analysis reveals a novel cluster of simian endogenous retroviral sequences in Colobinae monkeys2018

    • Author(s)
      Ikeda Masaki、Satomura Kazuhiro、Sekizuka Tsuyoshi、Hanada Kentaro、Endo Toshinori、Osada Naoki
    • Journal Title

      American Journal of Primatology

      Volume: 80

    • DOI

      10.1002/ajp.22882

    • NAID

      120006643589

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Whole Genome Sequencing of a Vietnamese Family from a Dioxin Contamination Hotspot Reveals Novel Variants in the Son with Undiagnosed Intellectual Disability2018

    • Author(s)
      Nguyen Dang、Nguyen Hai、Nguyen Thuy、Nguyen Thi、Nakano Kaoru、Maejima Kazuhiro、Sasaki-Oku Aya、Nguyen Van、Nguyen Duy、Le Bach、Wong Jing、Tsunoda Tatsuhiko、Nakagawa Hidewaki、Fujimoto Akihiro、Nong Van
    • Journal Title

      Int J Environ Res Public Health

      Volume: 15 Pages: 2629-2629

    • DOI

      10.3390/ijerph15122629

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis2018

    • Author(s)
      Shigemizu Daichi、Miya Fuyuki、Akiyama Shintaro、Okuda Shujiro、Boroevich Keith A、Fujimoto Akihiro、Nakagawa Hidewaki、Ozaki Kouichi、Niida Shumpei、Kanemura Yonehiro、Okamoto Nobuhiko、Saitoh Shinji、Kato Mitsuhiro、Yamasaki Mami、Matsunaga Tatsuo、Mutai Hideki、Kosaki Kenjiro、Tsunoda Tatsuhiko
    • Journal Title

      Sci Rep

      Volume: 8 Pages: 10367-10367

    • DOI

      10.1038/s41598-018-23978-z

    • NAID

      120006551758

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Loss-of-function mutations in Zn-finger DNA-binding domain of <i>HNF4A</i> cause aberrant transcriptional regulation in liver cancer2018

    • Author(s)
      Taniguchi Hiroaki、Fujimoto Akihiro、Kono Hidetoshi、Furuta Mayuko、Fujita Masashi、Nakagawa Hidewaki
    • Journal Title

      Oncotarget

      Volume: 9 Pages: 26144-26156

    • DOI

      10.18632/oncotarget.25456

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Identification of a two-SNP PLA2R1 Haplotype and HLA-DRB1 Alleles as Primary Risk Associations in Idiopathic Membranous Nephropathy2018

    • Author(s)
      Latt Khun Zaw、Honda Kenjiro、Thiri Myo、Hitomi Yuki、Omae Yosuke、Sawai Hiromi、Kawai Yosuke、Teraguchi Shunsuke、Ueno Kazuko、Nagasaki Masao、Mabuchi Akihiko、Kaga Hajime、Komatsuda Atsushi、Tokunaga Katsushi、Noiri Eisei
    • Journal Title

      Scientific Reports

      Volume: 8 Pages: 15576-15576

    • DOI

      10.1038/s41598-018-33612-7

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project2018

    • Author(s)
      Yasuda Jun、et al.,
    • Journal Title

      BMC Genomics

      Volume: 19 Pages: 551-551

    • DOI

      10.1186/s12864-018-4942-0

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2,049 individuals2018

    • Author(s)
      Y Yamaguchi-Kabata, J Yasuda, O Tanabe, Y Suzuki, H Kawame, N Fuse, M Nagasaki, Y Kawai, K Kojima, F Katsuoka, S Saito, I Danjoh, I Motoike, R Yamashita, S Koshiba, D Saigusa, G Tamiya, S Kure, N Yaegashi, Y Kawaguchi, F Nagami, S Kuriyama, J Sugawara, N Minegishi, A Hozawa, T Takai-Igarashi, K Kinoshita, M Yamamoto.
    • Journal Title

      Journal of Human Genetics 21

      Volume: 63 Pages: 213-230

    • DOI

      10.1038/s10038-017-0347-1

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Involvement of chalcone reductase in the soybean isoflavone metabolon: identification of GmCHR5, which interacts with 2-hydroxyisoflavanone synthase2018

    • Author(s)
      Mameda Ryo、Waki Toshiyuki、Kawai Yosuke、Takahashi Seiji、Nakayama Toru
    • Journal Title

      The Plant Journal

      Volume: 96 Pages: 56-74

    • DOI

      10.1111/tpj.14014

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population.2018

    • Author(s)
      Jia X, Horinouchi T, Hitomi Y, Shono A, Khor SS, Omae Y, Kojima K, Kawai Y, Nagasaki M, Kaku Y, Okamoto T, Ohwada Y, Ohta K, Okuda Y, Fujimaru R, Hatae K, Kumagai N, Sawanobori E, Nakazato H, Ohtsuka Y, Nakanishi K, Shima Y, Tanaka R, Ashida A, Kamei K, Ishikura K, Nozu K, Tokunaga K, Iijima K
    • Journal Title

      Journal of the American Society of Nephrology

      Volume: 29 Pages: 2189-2199

    • DOI

      10.1681/asn.2017080859

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] 進化遺伝学とがんゲノム解析2018

    • Author(s)
      藤本明洋
    • Journal Title

      実験医学

      Volume: 増刊号 Pages: 105-109

    • Related Report
      2018 Annual Research Report
  • [Journal Article] ゲノムシークエンスデータの情報解析2018

    • Author(s)
      藤本明洋
    • Journal Title

      生物物理

      Volume: 58 Pages: 001-003

    • NAID

      130007378613

    • Related Report
      2018 Annual Research Report
  • [Journal Article] 肝癌の全ゲノムシークエンス解析2018

    • Author(s)
      藤本明洋
    • Journal Title

      医学のあゆみ

      Volume: 8月4日号 Pages: 399-404

    • Related Report
      2018 Annual Research Report
  • [Presentation] Whole genome sequencing with long-reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer2021

    • Author(s)
      藤本明洋
    • Organizer
      Genome Concept Centennial Conference
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Genome-wide genetic diversity of wild house mice across Eurasia2021

    • Author(s)
      長田直樹
    • Organizer
      Genome Concept Centennial Conference
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] マカク属7種のゲノム解析による進化モデルの構築2020

    • Author(s)
      長田直樹,松平一成,濱田穣,Malaivijitnond Suchinda
    • Organizer
      第36回日本霊長類学会
    • Related Report
      2020 Annual Research Report
  • [Presentation] ゲノム配列データからヤポネシア人の起源について考える2020

    • Author(s)
      長田直樹
    • Organizer
      第22回日本進化学会オンライン大会
    • Related Report
      2020 Annual Research Report
  • [Presentation] 長鎖シークエンス技術を用いた構造多型/変異の検出とそれらの起源の推定2020

    • Author(s)
      藤本明洋
    • Organizer
      日本人類学会
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] Whole genome sequencing with long-reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer2020

    • Author(s)
      藤本明洋
    • Organizer
      日本人類遺伝学会
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] Rare allele sharing in Yaponesians and its surrounding populations2020

    • Author(s)
      五條堀淳
    • Organizer
      第22回日本進化学会オンライン大会
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] Demographic inference of human population from haplotype sharing information. The 2019 SMBE conference2019

    • Author(s)
      Yosuke Kawai
    • Organizer
      SMBE 2019
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Analysis of Mutations and Protein Stability on Human Mitochondrial DNA Haplogroups2019

    • Author(s)
      Kazumichi Fujiwara, Toshinori Endo, Naoki Osada
    • Organizer
      SMBE 2019
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] ハプロタイプ共有長の分布から推定する東アジア人の集団史2019

    • Author(s)
      河合洋介
    • Organizer
      日本進化学会第21回大会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] Identification of structural variations and analysis of their functional roles2019

    • Author(s)
      藤本明洋
    • Organizer
      日本進化学会第21回大会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] Genetic diversity of wild house mice (Mus musculus) using whole-genome sequences of multiple samples2019

    • Author(s)
      藤原一道,長田直樹,鈴木仁
    • Organizer
      日本進化学会第21回大会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] The negative selection pressure on autosomal recessive congenital ichthoyosis is weaker in African population2019

    • Author(s)
      東野俊英,長田直樹
    • Organizer
      日本進化学会第21回大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] Temporal change of protein stability in human mitochondria during out-of-Africa migration2019

    • Author(s)
      藤原一道,里村和浩,遠藤俊徳,長田直樹
    • Organizer
      日本進化学会第21回大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] Identification of structural variations and analysis of their functional roles2019

    • Author(s)
      藤本明洋
    • Organizer
      日本癌学会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 長鎖シークエンス技術を用いた癌の全ゲノムシークエンス2019

    • Author(s)
      藤本明洋
    • Organizer
      日本人類遺伝学会
    • Related Report
      2019 Annual Research Report
  • [Presentation] Population Genetics2019

    • Author(s)
      Akihiro Fujimoto
    • Organizer
      InCoB
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Identification of structural variations and analysis of their functional roles2019

    • Author(s)
      Akihiro Fujimoto
    • Organizer
      InCoB
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] ミトコンドリア塩基配列から推定された日本人集団特異的な有効集団サイズの増加2019

    • Author(s)
      五條堀 淳,日笠 幸一郎,松田 文彦,石谷 孔司,水野 文月,熊谷 真彦,植田 信太郎
    • Organizer
      第73回日本人類学会大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] ハツカネズミ(Mus musculus)亜種を用いた全ゲノム集団解析ハツカネズミ(Mus musculus)亜種を用いた全ゲノム集団解析2019

    • Author(s)
      藤原一道,河合洋介,斎藤成也,長田直樹,鈴木仁
    • Organizer
      第91回日本遺伝学会
    • Related Report
      2019 Annual Research Report
  • [Presentation] 構造異常/構造多型の検出と機能的意義の解析2019

    • Author(s)
      藤本明洋
    • Organizer
      ナノポア現場の会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 情報解析と人類遺伝学2019

    • Author(s)
      藤本明洋
    • Organizer
      遺伝統計学・夏の学校
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] がんゲノム配列決定と今後の課題 -B型・C型肝炎に由来する肝癌の全ゲノム配列解析を例に-2019

    • Author(s)
      藤本明洋
    • Organizer
      京大小児科血液腫瘍研究会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 「港川人骨のミトコンドリア DNA 全塩基配列からわかること」2019

    • Author(s)
      五條堀淳,水野文月
    • Organizer
      日本学術会議シンポジウム「日本旧石器人研究の発展:沖縄の現場から」
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] ヒトゲノムの多様性をどのように解析するのか2019

    • Author(s)
      長田直樹
    • Organizer
      BI人材育成講座
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] ソフトウェア講習2019

    • Author(s)
      長田直樹
    • Organizer
      第3回木村資生記念進化学セミナー
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] Big data in biology: perspectives of genomic diversity studies2019

    • Author(s)
      Naoki Osada
    • Organizer
      Winter International Symposium on Big-Data, Cybersecurity and IoT
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 性による移住率の偏りをゲノムデータから推定する2018

    • Author(s)
      長田直樹
    • Organizer
      第72回日本人類学会大会
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] ミトコンドリアDNAハプログループに注目した,ヒトミトコンドリアタンパク質複合体IVにおける突然変異とタンパク質構造安定性に関する研究2018

    • Author(s)
      藤原一道,遠藤俊徳,長田直樹
    • Organizer
      第72回日本人類学会大会
    • Related Report
      2018 Annual Research Report
  • [Presentation] ミトコンドリアタンパク質複合体IVでの突然変異とそのタンパク質の構造安定性が与える影響について2018

    • Author(s)
      藤原一道,遠藤俊徳,長田直樹
    • Organizer
      第90回日本遺伝学会大会
    • Related Report
      2018 Annual Research Report
  • [Presentation] 霊長類ミトコンドリア遺伝子における多重置換に対する自然選択2018

    • Author(s)
      里村和浩,長田直樹,遠藤俊徳
    • Organizer
      第90回日本遺伝学会大会
    • Related Report
      2018 Annual Research Report
  • [Presentation] Understanding the relationship among the structural and functional properties of amino acid changes to predict the effect of mutations on human beta globin gene2018

    • Author(s)
      Sangeetha Udani Ratnayake, Toshinori Endo, Naoki Osada
    • Organizer
      第90回日本遺伝学会大会
    • Related Report
      2018 Annual Research Report
  • [Presentation] Predicting disease causality of mutations in human beta globin gene2018

    • Author(s)
      Sangeetha Udani Ratnayake, Toshinori Endo, Naoki Osada
    • Organizer
      SMBE2018
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Hybrid type of nuclear and plastid DNAs suggests the hypothesis for ancient propagation of American bottle gourd (Lagenaria siceraria)2018

    • Author(s)
      Dai Watabe, Hiroshi Yuasa, Naoki Osada, Kazuhiro Satomura, Toshinori endo
    • Organizer
      SMBE2018
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Search for the factors related to HCV replication in the HuH-7 cell line lineages2018

    • Author(s)
      Masaki Kawamoto, Toshinori Endo, Masayoshi Fukasawa, Kentaro Hanada, Naoki Osada
    • Organizer
      SMBE2018
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Compensatory back mutations in mitochondrial genome of primates2018

    • Author(s)
      Kazuhiro Satomura, Naoki Osada, Toshinori Endo
    • Organizer
      SMBE2018
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 全ゲノム塩基配列を用いたヤポネシアとその周辺集団の解析2018

    • Author(s)
      五條堀淳
    • Organizer
      第72回日本人類学会大会
    • Related Report
      2018 Annual Research Report
  • [Presentation] Genome-wide genetic variation of people in Japan and its implication of demographic history2018

    • Author(s)
      Kawai Y, Mimori T, Hitomi Y, Khor SS, Gervais O, Nagasaki M and Tokunaga K
    • Organizer
      SMBE2018
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Comprehensive Analysis of Indels in Whole-genome Microsatellite Regions and Microsatellite Instability across 21 Cancer Types2018

    • Author(s)
      藤本明洋
    • Organizer
      アメリカ人類遺伝学会
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Identification of structural variations and analysis of their functional roles2018

    • Author(s)
      藤本明洋
    • Organizer
      日本分子生物学会
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] ヒトのゲノム配列の解析と今後の課題;ゲノム解析の基礎、がんゲノム.研究、リキッドバイオプシーの個別化医療への応用2018

    • Author(s)
      藤本明洋
    • Organizer
      薬物動態談話会
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] ヒト肝癌のゲノム異常の包括的解析と今後の課題2018

    • Author(s)
      藤本明洋
    • Organizer
      関西肝癌局所療法研究会
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Book] 最新DNA研究が解き明かす。日本人の誕生2020

    • Author(s)
      斎藤成也、木村亮介、鈴木留美子、河合洋介、松波雅俊
    • Total Pages
      240
    • Publisher
      秀和システム
    • ISBN
      9784798060224
    • Related Report
      2020 Annual Research Report
  • [Book] 進化で読み解く バイオインフォマティクス入門2019

    • Author(s)
      長田 直樹
    • Total Pages
      232
    • Publisher
      森北出版
    • ISBN
      9784627261419
    • Related Report
      2019 Annual Research Report
  • [Remarks] ヤポネシアゲノム

    • URL

      http://www.yaponesian.jp/

    • Related Report
      2019 Annual Research Report
  • [Funded Workshop] New development of human genome diversity studies2019

    • Related Report
      2019 Annual Research Report

URL: 

Published: 2018-07-20   Modified: 2022-04-19  

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