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Functional analysis of a candidate gene for autism spectrum disorder

Research Project

Project/Area Number 25670517
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Psychiatric science
Research InstitutionKyushu University

Principal Investigator

Nakayama Keiichi  九州大学, 生体防御医学研究所, 教授 (80291508)

Project Period (FY) 2013-04-01 – 2014-03-31
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2013: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Keywords自閉症スペクトラム障害 / クロマチンリモデリング / ノックアウトマウス / 行動 / CHD8 / 行動解析
Outline of Final Research Achievements

Autism Spectrum Disorder (ASD) is a functional defect in neuronal development, characterized by communication problems and markedly restricted activity and interest of the patients. Recent several large-scale genome-wide screening studies identified CHD8 (chromodomain-helicase-DNA binding protein 8), a chromatin remodeling factor, as the most frequently mutated gene in ASD patients. We have generated mice heterozygous for CHD8 gene deletion and examined their behavior. A line of behavioral battery tests revealed that CHD8 heterozygous knockout mice exhibited strong anxiety and paradoxical social activities, reminiscent of human ASD. We also studies molecular machinery of the ASD pathogenesis by RNA-seq and ChIP-seq with the use of the next-generation sequencer.

Academic Significance and Societal Importance of the Research Achievements

本研究結果より、CHD8ヘテロ欠損マウスは自閉症スペクトラム障害(ASD)様の症状を示す新規モデルマウスとしてASD研究に利用できることが明らかとなった。これによってASDに対する新たな治療法の探索が容易になることが期待される。具体的には、CHD8欠損によって上昇してくる遺伝子産物に対する阻害剤をスクリーニングし、その中から本当にASDの治療に役立つ化合物を実際のマウス行動によって検証することができるようになるため、非常に社会的意義は大きいと考えられる。

Report

(2 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • Research Products

    (6 results)

All 2014 Other

All Journal Article (3 results) (of which Peer Reviewed: 3 results) Presentation (2 results) Remarks (1 results)

  • [Journal Article] HERC2 targets the iron regulator FBXL5 for degradation and modulates iron metabolism2014

    • Author(s)
      Moroishi T., Yamauchi T., Nishiyama M., Nakayama KI.
    • Journal Title

      J. Biol. Chem.

      Volume: 未定

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia2014

    • Author(s)
      Hashimoto Y., Shirane M., Matsuzaki F., Saita S., Ohnishi T., Nakayama KI.
    • Journal Title

      J. Biol. Chem.

      Volume: 未定

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identification and characterization of a neuron-specific isoform of protrudin.2014

    • Author(s)
      Ohnishi, T., *Shirane, M., Hashimoto, Y., Saita, S., and Nakayama, K. I.
    • Journal Title

      Genes Cells

      Volume: 19 Issue: 2 Pages: 97-111

    • DOI

      10.1111/gtc.12109

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Presentation] A neuron-specific isoform of protrudin contributes to establishment of neural polarity2014

    • Author(s)
      Takafumi Ohnishi, Yutaka Hashimoto, Shotaro Saita, Keiichi I. Nakayama, Michiko Shirane
    • Organizer
      International Symposium between Kyushu University Post-Global Centers of Excellence Program and School of Biomedical Sciences, Monash University
    • Place of Presentation
      Melbourne, Australia
    • Related Report
      2013 Annual Research Report
  • [Presentation] Protrudin regulates ER morphology and function associated with the pathogenesis of hereditary spastic paraplegia2014

    • Author(s)
      Michiko Shirane, Yutaka Hashimoto, Fumiko Matsuzaki, Shotaro Saita, Takafumi Ohnishi, Keiichi I. Nakayama
    • Organizer
      International Symposium between Kyushu University Post-Global Centers of Excellence Program and School of Biomedical Sciences, Monash University
    • Place of Presentation
      Melbourne, Australia
    • Related Report
      2013 Annual Research Report
  • [Remarks] 九州大学生体防御医学研究所分子医科学分野

    • URL

      http://www.bioreg.kyushu-u.ac.jp/saibou/index.html

    • Related Report
      2013 Annual Research Report

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Published: 2014-07-25   Modified: 2021-02-19  

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