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Screening of a cofactor of DUX4, a candidate causative gene for facioscapulohumeral muscular dystrophy

Research Project

Project/Area Number 25893046
Research Category

Grant-in-Aid for Research Activity Start-up

Allocation TypeSingle-year Grants
Research Field Neurology
Research InstitutionThe University of Tokyo

Principal Investigator

MITSUHASHI Hiroaki  東京大学, 生命科学ネットワーク, 特任助教 (20466220)

Project Period (FY) 2013-08-30 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywords遺伝性筋疾患 / 筋ジストロフィー / 転写因子 / 細胞死 / 結合タンパク質 / 遺伝性疾患 / 分子生物学 / 転写制御
Outline of Final Research Achievements

To screen the regulatory factor of DUX4, a leading candidate gene for FSHD, we tried yeast two-hybrid screening with DUX4 C-terminal region. However, the DUX4 C-terminal region fused to GAL4 DNA-binding domain showed extremely strong transcriptional activity in yeast cells, we found that it was difficult to identify DUX4 binding protein by this method. Next, we tried GST pull-down screening with GST-DUX4 C-terminus fusion protein and human muscle cell lysate. As the result, a low molecular band was detected in the elute of GST-DUX4 pull-down. We are currently trying to identify this protein.

Report

(3 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Annual Research Report
  • Research Products

    (6 results)

All 2015 2014 2013

All Presentation (6 results)

  • [Presentation] 筋ジストロフィーの原因となる転写因子DUX4の機能解析2015

    • Author(s)
      三橋弘明
    • Organizer
      第3回骨格筋生物学研究会
    • Place of Presentation
      東北大学、宮城
    • Year and Date
      2015-03-08
    • Related Report
      2014 Annual Research Report
  • [Presentation] DUX4の細胞毒性は転写活性に依存する2014

    • Author(s)
      三橋弘明、石浦章一
    • Organizer
      第37回日本分子生物学会
    • Place of Presentation
      パシフィコ横浜、神奈川
    • Year and Date
      2014-11-25
    • Related Report
      2014 Annual Research Report
  • [Presentation] Generation of a transgenic zebrafish as a model for Facioscapulohumeral muscular dystrophy2014

    • Author(s)
      三橋弘明、Angela Lek, Christian Mosimann, Leonard I Zon, Louis M Kunkel
    • Organizer
      第20回小型魚類研究会
    • Place of Presentation
      慶応義塾大学、東京
    • Year and Date
      2014-09-20
    • Related Report
      2014 Annual Research Report
  • [Presentation] A transgenic zebrafish model for FSHD2014

    • Author(s)
      Angela Lek, 三橋弘明, Fedik Rahimov, Quinn Murphy, Vandana Gupta, Christian Mosimann, Leonard I Zon, Louis M Kunkel
    • Organizer
      New Directions in Biology and Disease of Skeletal Muscle Conference
    • Place of Presentation
      Chicago, USA
    • Year and Date
      2014-06-30
    • Related Report
      2014 Annual Research Report
  • [Presentation] Identification of transcriptional targets of human DUX4 during zebrafish development2014

    • Author(s)
      Fedik Rahimov, Oliver King,三橋弘明 Angela Lek, Louis M Kunkel
    • Organizer
      New Directions in Biology and Disease of Skeletal Muscle Conference
    • Place of Presentation
      Chicago, USA
    • Year and Date
      2014-06-30
    • Related Report
      2014 Annual Research Report
  • [Presentation] Expression of DUX4 in zebrafish development leads to Facioscapulohumeral muscular dystrophy-like phenotype2013

    • Author(s)
      三橋 弘明
    • Organizer
      第36回日本分子生物学会年会
    • Place of Presentation
      兵庫県神戸市 神戸ポートアイランド
    • Related Report
      2013 Annual Research Report

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Published: 2013-09-12   Modified: 2019-07-29  

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