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Elucidation of the mechanism of methylation maintenance of imprinting region using iPS cells

Research Project

Project/Area Number 18K15686
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 52050:Embryonic medicine and pediatrics-related
Research InstitutionKeio University

Principal Investigator

OKUNO HIronobu  慶應義塾大学, 医学部(信濃町), 助教 (70445310)

Project Period (FY) 2018-04-01 – 2022-03-31
Project Status Completed (Fiscal Year 2021)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2021: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2020: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2019: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2018: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
KeywordsiPS細胞 / 視床下部 / Prader-Willi症候群 / メチル化維持機能 / インプリンティング / Prader-Willi sydrome / MeCP2結合領域 / MeCP2 / プラダーウィリー症候群 / プラダー・ウィリー症候群
Outline of Final Research Achievements

How various cells in the human body work is controlled by the genomic information in the cells. The genomic information is not always in a "working state," but various functions are created by combining "working" and "resting" information. The region called chromosome 15q11.2 in the genome is greatly involved in brain functions. In patient-derived iPS cells lacking this region, genomic information in a "resting" state is easily converted to a "working" state on its own. This region seems to control not onle In brain function but also maintenance of the genomic methylation, i.e. "working" and "resting" information. Cells Artificially deleted the region by genome-editing technology are difficult to maintain its survival and this region is considered to be extremely important for iPS cells.

Academic Significance and Societal Importance of the Research Achievements

ゲノム情報が「働いている」「やすんでいる」 は、その領域が「脱メチル化している」「メチル化している」ことが目印として用いられる。さらに15q11.2領域は、父親から受け継いだ領域が「脱メチル化」、母親から受け継いだ領域が「メチル化」された状態になるインプリンティングと呼ばれる領域である。インプリンティングは、どのような仕組みでメチル化状態が決められ、維持されているかについて、未だわかっていない。今回の研究では、そのインプリンティング領域のメチル化状態がどのように決められているかを解明しようとする研究である。

Report

(5 results)
  • 2021 Annual Research Report   Final Research Report ( PDF )
  • 2020 Research-status Report
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (2 results)

All 2021

All Presentation (2 results) (of which Int'l Joint Research: 1 results)

  • [Presentation] Generation of Hypothalamic Cell Model of Prader-Willi Syndrome Using Patient-derived induced Pluripotent Stem Cells2021

    • Author(s)
      Akisa Nemoto, Hironobu Okuno, Hideyuki Okano
    • Organizer
      The 2021 Tokyo International Symposium
    • Related Report
      2021 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Modeling Prader-Willi syndrome using hypothalamic neurons from patient-derived induced pluripotent stem cells2021

    • Author(s)
      Akisa Nemoto, Hironobu Okuno, Hideyuki Okano
    • Organizer
      第64回神経化学会
    • Related Report
      2021 Annual Research Report

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Published: 2018-04-23   Modified: 2023-01-30  

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