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Identification of the genes for mechanical stress diseases

Research Project

Project/Area Number 18H02932
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Review Section Basic Section 56020:Orthopedics-related
Research InstitutionInstitute of Physical and Chemical Research

Principal Investigator

Ikegawa Shiro  国立研究開発法人理化学研究所, 生命医科学研究センター, チームリーダー (30272496)

Co-Investigator(Kenkyū-buntansha) 尾崎 浩一  国立研究開発法人国立長寿医療研究センター, メディカルゲノムセンター, 部長 (50373288)
Project Period (FY) 2018-04-01 – 2021-03-31
Project Status Completed (Fiscal Year 2020)
Budget Amount *help
¥17,420,000 (Direct Cost: ¥13,400,000、Indirect Cost: ¥4,020,000)
Fiscal Year 2020: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2019: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2018: ¥7,540,000 (Direct Cost: ¥5,800,000、Indirect Cost: ¥1,740,000)
Keywordsメカニカルストレス病 / 原因遺伝子 / 骨系統疾患 / 骨硬化症 / ゲノム / メカニカルストレス / 疾患遺伝子 / 単一遺伝子病 / 多因子遺伝病 / ゲノム解析 / 分子病態 / 大理石骨病 / 異骨性骨硬化症 / 遺伝子 / 大規模ゲノム解析
Outline of Final Research Achievements

We discovered the disease genes for the following mechanical stress diseases fist in the world. (1) TNFRSF11A (tumor necrosis factor receptor superfamily, member 11A) in Dysosteosclerosis. (2) CSF1R (colony-stimulating factor 1 receptor) in Dysosteosclerosis. (3)TMEM53 (transmembrane protein 53) in Craniotubular dysplasia, Ikegawa type
We reported the following mechanical stress diseases fist in the world and established their disease entities. (1) BANDDOS. (2) Craniotubular dysplasia, Ikegawa type

Academic Significance and Societal Importance of the Research Achievements

単一遺伝子性メカニカルストレス病の分子病態の解明は、運動器common diseaseの病因・分子病態の解明、新規創薬ターゲットの発見の突破口にもなりうる。単一遺伝子性と多因子遺伝性のメカニカルストレス病を総合的に解析することには医学研究上大きなメリットがある。また、メカニカルストレス病の多様な表現型、罹患組織からして、その原因遺伝子は多岐にわたり、かつそれらは相互に関連し、影響を及ぼしあう複雑なネットワークを形成すると考えられる。よって、メカニカルストレス原因遺伝子群をひとつのシステムとして捕え、関連する疾患を包括的、系統的に解析することで、研究を加速させることが期待できる。

Report

(4 results)
  • 2020 Annual Research Report   Final Research Report ( PDF )
  • 2019 Annual Research Report
  • 2018 Annual Research Report
  • Research Products

    (37 results)

All 2021 2020 2019 2018 Other

All Journal Article (9 results) (of which Int'l Joint Research: 6 results,  Peer Reviewed: 8 results,  Open Access: 3 results) Presentation (22 results) (of which Int'l Joint Research: 9 results,  Invited: 21 results) Remarks (6 results)

  • [Journal Article] Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis2021

    • Author(s)
      Xue Jing-Yi、Simsek-Kiper Pelin O.、Utine Gulen Eda、Yan Li、Wang Zheng、Taskiran Ekim Z.、Karaosmanoglu Beren、Imren Gozde、Gocmen Rahsan、Nishimura Gen、Matsumoto Naomichi、Miyake Noriko、Ikegawa Shiro、Guo Long
    • Journal Title

      Journal of Human Genetics

      Volume: 66 Issue: 6 Pages: 607-611

    • DOI

      10.1038/s10038-020-00891-w

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling2021

    • Author(s)
      Guo Long、(他19名)、Ikegawa Shiro
    • Journal Title

      Nature Communications

      Volume: 12 Issue: 1 Pages: 2046-2046

    • DOI

      10.1038/s41467-021-22340-8

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases2020

    • Author(s)
      Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low SK, Okada Y, Yamaji T, et al
    • Journal Title

      Nature Genetics

      Volume: 52 Issue: 7 Pages: 669-679

    • DOI

      10.1038/s41588-020-0640-3

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Genetic disorders associated with the RANKL/OPG/RANK pathway2020

    • Author(s)
      Xue Jing-Yi、Ikegawa Shiro、Guo Long
    • Journal Title

      Journal of Bone and Mineral Metabolism

      Volume: 39 Issue: 1 Pages: 45-53

    • DOI

      10.1007/s00774-020-01148-4

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins2020

    • Author(s)
      Xue Jing-Yi、Wang Zheng、Smithson Sarah F.、Burren Christine P.、Matsumoto Naomichi、Nishimura Gen、Ikegawa Shiro、Guo Long
    • Journal Title

      Journal of Human Genetics

      Volume: 66 Issue: 4 Pages: 371-377

    • DOI

      10.1038/s10038-020-00831-8

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] 整形外科領域のゲノム医療 -現状と今後の課題-2020

    • Author(s)
      池川志郎
    • Journal Title

      日本整形外科学会雑誌 -別刷ー

      Volume: 94 Pages: 27-31

    • Related Report
      2019 Annual Research Report
  • [Journal Article] Crim1C140S mutant mice reveal the importance of cysteine 140 in the internal region 1 of CRIM1 for its physiological functions.2019

    • Author(s)
      Furuichi T, Tsukamoto M, Saito M, Sato Y, Oiji N, Yagami K, Fukumura R, Gondo Y, Guo L, Ikegawa S, Yamamori Y, Tomii K.
    • Journal Title

      Mamm Genome

      Volume: 30 Issue: 11-12 Pages: 329-338

    • DOI

      10.1007/s00335-019-09822-3

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation2019

    • Author(s)
      Guo L, Bertola DR, Takanohashi A, Saito A, Segawa Y, Yokota T, Ishibashi S, Nishida Y, Yamamoto GL, Franco JFdS, Honjo RS, Kim CA, Musso CM, Timmons M, Pizzino A, Taft RJ, (以下21名省略), Ikegawa S.
    • Journal Title

      The American Journal of Human Genetics

      Volume: 104 Issue: 5 Pages: 925-935

    • DOI

      10.1016/j.ajhg.2019.03.004

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Dysosteosclerosis is also caused by TNFRSF11A mutation.2018

    • Author(s)
      Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S#.
    • Journal Title

      J Hum Genet.

      Volume: 63(6) Issue: 6 Pages: 769-774

    • DOI

      10.1038/s10038-018-0447-6

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Presentation] ゲノム医療と整形外科:パーソナルゲノム時代に取り残されないために2020

    • Author(s)
      池川志郎
    • Organizer
      ちば 整形外科エキスパートカンファレンス 2020
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] 病気と遺伝:これからの医学・医療を理解するための基礎知識2020

    • Author(s)
      池川志郎
    • Organizer
      愛媛大特別講義
    • Related Report
      2020 Annual Research Report
  • [Presentation] 整形外科のゲノム医療:現在、過去、未来2020

    • Author(s)
      池川志郎
    • Organizer
      第135回中部日本整形外科災害外科学会・学術集会(教育研修講演)
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] 後縦靭帯骨化症のゲノム研究:過去・現在・未来2020

    • Author(s)
      池川志郎
    • Organizer
      第35回日本整形外科学会基礎学術集会
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] Differential diagnosis of skeletal dysplasias and genetic skeletal disorders2020

    • Author(s)
      池川志郎
    • Organizer
      Virtual APAC MPS Summit 2020 Webinar 2020
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Genomic Study of Rare Diseases of Skeleton2020

    • Author(s)
      池川志郎
    • Organizer
      India -Japan Webinar on "Rare Genetic Disorders" by Embassy of India
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Identification of novel disease genes and re-classification of dysosteosclerosis2020

    • Author(s)
      池川志郎
    • Organizer
      The 65th Annual Meeting of the Japan Society of Human Genetics (English Symposium)
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 運動器疾患におけるゲノム研究2019

    • Author(s)
      池川志郎
    • Organizer
      第62回 日本手外科学会学術集会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 骨系統疾患のゲノム解析2019

    • Author(s)
      池川志郎
    • Organizer
      New Insights of Molecular Genetics on Growth Disorders
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] ゲノム医療について2019

    • Author(s)
      池川志郎
    • Organizer
      第46回 難病患者・障害者と家族の全道集会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 病気と遺伝:これからの医学・医療を理解するための基礎知識2019

    • Author(s)
      池川志郎
    • Organizer
      愛媛大特別講義
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 骨関節疾患のゲノム解析の現状と課題2019

    • Author(s)
      池川志郎
    • Organizer
      第46回日本股関節学会学術集会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] 病気と遺伝:これからの医学・医療を理解するための基礎知識2019

    • Author(s)
      池川志郎
    • Organizer
      広島大学歯学部特別講義
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] ゲノム医療と整形外科2019

    • Author(s)
      池川志郎
    • Organizer
      ロコモ対策 運動器疾患/骨・関節フォーラム
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] Genetic study of skeletal dysplasia2019

    • Author(s)
      池川志郎
    • Organizer
      APSS-APPOS 2019
    • Related Report
      2019 Annual Research Report 2018 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Identification of Novel Disease Genes and Re-classification of Dysosteosclerosis2019

    • Author(s)
      池川志郎
    • Organizer
      14th ISDS meeting, Oslo, Norway
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Genomic study of skeletal dysplasia in the personal genome sequence era2019

    • Author(s)
      池川志郎
    • Organizer
      4th National Pediatric Genetics Congress
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Genomic study of Diseases in the Genome Sequencing Era2019

    • Author(s)
      池川志郎
    • Organizer
      中国医学科学院基礎研究所セミナー
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Genomic study of Diseases in the Genome Sequencing Era2019

    • Author(s)
      池川志郎
    • Organizer
      北京協和医学院病院骨科セミナー
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] ヒトゲノム解析の基礎知識:パーソナルゲノム時代に取り残されないために2019

    • Author(s)
      池川志郎
    • Organizer
      北里大学薬学研究科大学院特別講義
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] 病気と遺伝:これからの医学・医療を理解するための基礎知識2018

    • Author(s)
      池川志郎
    • Organizer
      愛媛大特別講義
    • Related Report
      2018 Annual Research Report
    • Invited
  • [Presentation] Genomic Study of Skeletal Dysplasia2018

    • Author(s)
      池川志郎
    • Organizer
      二国間交流事業
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research / Invited
  • [Remarks] 研究室ホームページ(理化学研究所チームページ)

    • URL

      http://www.riken.jp/lab-www/OA-team/index.html

    • Related Report
      2020 Annual Research Report
  • [Remarks] 研究室ホームページ(理化学研究所研究室紹介)

    • URL

      https://www.riken.jp/research/labs/ims/bone_joint_dis/

    • Related Report
      2020 Annual Research Report
  • [Remarks] 骨系統疾患コンソーシウム

    • URL

      http://www2.riken.jp/lab/OA-team/JSDC/

    • Related Report
      2020 Annual Research Report
  • [Remarks] 保健文化賞

    • URL

      https://www.asahi.com/articles/DA3S14745016.html

    • Related Report
      2020 Annual Research Report
  • [Remarks] 保健文化賞(理化学研究所ニュース)

    • URL

      https://www.ims.riken.jp/2021/01/004142.php

    • Related Report
      2020 Annual Research Report
  • [Remarks] 骨関節疾患研究チーム

    • URL

      http://www.riken.jp/lab-www/OA-team/index.html

    • Related Report
      2019 Annual Research Report

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Published: 2018-04-23   Modified: 2022-01-27  

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