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Elucidation of the molecular basis of developmental disorders using a novel mouse model of gene duplication

Research Project

Project/Area Number 21K15726
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 52030:Psychiatry-related
Research InstitutionKanazawa University

Principal Investigator

Kawamura Atsuki  金沢大学, 医学系, 助教 (40898087)

Project Period (FY) 2021-04-01 – 2023-03-31
Project Status Completed (Fiscal Year 2022)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2022: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2021: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Keywords発達障害 / 自閉症 / クロマチンリモデリング / 遺伝子重複 / モデルマウス / 神経発生
Outline of Research at the Start

自閉症を含む発達障害の患者の多くは社会生活に支障をきたしており、社会的にも大きな問題となっているため、その発症メカニズムの解明と治療法の開発が強く求められている。本研究では、新たに遺伝子重複による発達障害のモデルマウスを確立し、発達障害の発症メカニズムを分子レベルで明らかにすることによって、疾患治療への応用を目指す。

Outline of Final Research Achievements

We generated autism risk factor Chd8 overexpressing mice. Our comprehensive behavioral analysis revealed that the transgenic mice manifested some behavioral abnormalities. Furthermore, we performed RNA-seq analysis with embryonic brains of these mice and found that the expression of genes related to neuronal differentiation was altered in the transgenic mice.

Academic Significance and Societal Importance of the Research Achievements

CHD8遺伝子をノックインしたマウスの作製に成功した。さらにこのマウスは様々な行動異常を示すことから、発達障害のモデルマウスとしての有用性が示唆された。今後このモデルマウスを用いて発達障害の発症メカニズム解明や治療応用が期待される。

Report

(3 results)
  • 2022 Annual Research Report   Final Research Report ( PDF )
  • 2021 Research-status Report
  • Research Products

    (2 results)

All 2021

All Journal Article (1 results) (of which Peer Reviewed: 1 results,  Open Access: 1 results) Presentation (1 results)

  • [Journal Article] The autism-associated protein CHD8 is required for cerebellar development and motor function2021

    • Author(s)
      Kawamura Atsuki、Katayama Yuta、Kakegawa Wataru、Ino Daisuke、Nishiyama Masaaki、Yuzaki Michisuke、Nakayama Keiichi I.
    • Journal Title

      Cell Reports

      Volume: 35 Issue: 1 Pages: 108932-108932

    • DOI

      10.1016/j.celrep.2021.108932

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] Identification of neural cell types responsible for autistic-like phenotypes by Chd8 mutation2021

    • Author(s)
      Atsuki Kawamura, Yuta Katayama, Keiichi I. Nakayama, and Masaaki Nishiyama
    • Organizer
      第44回日本分子生物学会年会
    • Related Report
      2021 Research-status Report

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Published: 2021-04-28   Modified: 2024-01-30  

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