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Identification of risk variants based on whole-exome analysis of autism multiplex family(Fostering Joint International Research)

Research Project

Project/Area Number 15KK0339
Research Category

Fund for the Promotion of Joint International Research (Fostering Joint International Research)

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

Principal Investigator

Egawa Jun  新潟大学, 医歯学総合研究科, 特任准教授 (80648527)

Project Period (FY) 2016 – 2019
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥14,560,000 (Direct Cost: ¥11,200,000、Indirect Cost: ¥3,360,000)
Keywords自閉症 / High Content Screening / 培養神経細胞 / Kinase inhibitor / シナプス / ハイコンテントスクリーニング / 神経細胞・ミクログリア共培養 / 自閉スペクトラム症 / リン酸化プロテオミクス / 成長円錐 / シナプス画分 / 自閉スぺlクトラム症 / シナプス伝達経路 / タンパクのリン酸化 / 網羅的解析
Outline of Final Research Achievements

A huge number of Autism risk genes have been identified by comprehensive gene analysis such as all-exome analysis, and functional analysis of individual risk genes has been advanced. However, the whole picture of the pathological condition drawn by a huge number of Autism risk genes is elusive. The main reason seems to be the genetic heterogeneity of Autism patients. This study aimed to establish an experimental system for comprehensive analysis at the cell level. Therefore, we established an experimental system to measure the number of synapses of long-term cultured cells counted with a High Content Screening machine.

Academic Significance and Societal Importance of the Research Achievements

自閉症に罹患することは社会的不適応につながり、虐待・いじめ・ひきこもりなどの多様な社会問題に影響しているため、その病態解明は急務と言える。自閉症の病態解明が進まない最も大きな原因である自閉症患者群の遺伝子的背景の不均一性を解消する細胞レべルの網羅的解析を可能にする実験系の確立したことに本研究成果の意義があると考えられる。

Report

(5 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • 2017 Research-status Report
  • 2016 Research-status Report
  • Research Products

    (11 results)

All 2020 2019 2018 2017

All Int'l Joint Research (1 results) Journal Article (6 results) (of which Int'l Joint Research: 2 results,  Peer Reviewed: 6 results,  Open Access: 6 results) Presentation (4 results) (of which Int'l Joint Research: 2 results)

  • [Int'l Joint Research] マイアミ大学(米国)2018

    • Year and Date
      2018-08-07
    • Related Report
      2019 Annual Research Report
  • [Journal Article] Macaques Exhibit Implicit Gaze Bias Anticipating Others’ False-Belief-Driven Actions via Medial Prefrontal Cortex2020

    • Author(s)
      Hayashi Taketsugu、Akikawa Ryota、Kawasaki Keisuke、Egawa Jun、Minamimoto Takafumi、Kobayashi Kazuto、Kato Shigeki、Hori Yukiko、Nagai Yuji、Iijima Atsuhiko、Someya Toshiyuki、Hasegawa Isao
    • Journal Title

      Cell Reports

      Volume: 30 Issue: 13 Pages: 4433-4444

    • DOI

      10.1016/j.celrep.2020.03.013

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] <p>Rare compound heterozygous missense <em>SPATA7</em> variations and risk of schizophrenia; whole-exome sequencing in a consanguineous family with affected siblings, follow-up sequencing and a case-control study</p>2019

    • Author(s)
      Igeta Hirofumi、Watanabe Yuichiro、Morikawa Ryo、Ikeda Masashi、Otsuka Ikuo、Hoya Satoshi、Koizumi Masataka、Egawa Jun、Hishimoto Akitoyo、Iwata Nakao、Someya Toshiyuki
    • Journal Title

      Neuropsychiatric Disease and Treatment

      Volume: Volume 15 Pages: 2353-2363

    • DOI

      10.2147/ndt.s218773

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Identifying the factor structure of the Mother‐to‐Infant Bonding Scale for post‐partum women and examining its consistency during pregnancy2019

    • Author(s)
      Motegi Takaharu、Fukui Naoki、Hashijiri Koyo、Tsuboya Ryusuke、Sugai Takuro、Egawa Jun、Mitome Setsuko、Araki Rie、Haino Kazufumi、Yamaguchi Masayuki、Takakuwa Koichi、Enomoto Takayuki、Someya Toshiyuki
    • Journal Title

      Psychiatry and Clinical Neurosciences

      Volume: 73 Issue: 10 Pages: 661-662

    • DOI

      10.1111/pcn.12920

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.2018

    • Author(s)
      Kushima I, (27名中略), Hashimoto R,(80名中29番目) , et al.
    • Journal Title

      Cell Rep

      Volume: 24(11) Issue: 11 Pages: 2838-2856

    • DOI

      10.1016/j.celrep.2018.08.022

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Rare loss of function mutations in N-methyl-d-aspartate glutamate receptors and their contributions to schizophrenia susceptibility2018

    • Author(s)
      Yu Yanjie、Lin Yingni、Takasaki Yuto、Wang Chenyao、Kimura Hiroki、Xing Jingrui、Ishizuka Kanako、Toyama Miho、Kushima Itaru、Mori Daisuke、Arioka Yuko、Uno Yota、Shiino Tomoko、Nakamura Yukako、Okada Takashi、Morikawa Mako、Ikeda Masashi、Iwata Nakao、Okahisa Yuko、Takaki Manabu、Sakamoto Shinji、et al.
    • Journal Title

      Translational Psychiatry

      Volume: 8 Issue: 1 Pages: 12-20

    • DOI

      10.1038/s41398-017-0061-y

    • Related Report
      2018 Research-status Report 2017 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Rare genetic variants in CX3CR1 and their contribution to the increased risk of schizophrenia and autism spectrum disorders2017

    • Author(s)
      Ishizuka K、Fujita Y、Kawabata T、Kimura H、Iwayama Y、Inada T、Okahisa Y、Egawa J、Usami M、Kushima I、Uno Y、Okada T、Ikeda M、Aleksic B、Mori D、Someya To、Yoshikawa T、Iwata N、Nakamura H、Yamashita T、Ozaki N
    • Journal Title

      Translational Psychiatry

      Volume: 7 Issue: 8 Pages: e1184-e1184

    • DOI

      10.1038/tp.2017.173

    • Related Report
      2017 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] 自閉症リスク遺伝子Neuroligin3の機能的リン酸化部位の機能解析2019

    • Author(s)
      江川純, 五十嵐道弘, 染矢俊幸
    • Organizer
      第115回日本精神神経学会
    • Related Report
      2019 Annual Research Report 2018 Research-status Report
  • [Presentation] 拡散テンソル画像を用いた脳機能結合と自閉スペクトラム症との関連解析2019

    • Author(s)
      江川純, 杉本篤言, 吉永清宏, 林剛丞, 染矢俊幸
    • Organizer
      第115回日本精神神経学会
    • Related Report
      2019 Annual Research Report 2018 Research-status Report
  • [Presentation] Relationship between prefrontal cortex activity during task execution and ADHD symptoms of adult patients, and their changes by atomoxetine.2018

    • Author(s)
      Sugimoto A, Suzuki Y, Yoshinaga K, Orime N, Hayashi T, Egawa J, Ono S, Sugai T, Someya T
    • Organizer
      WFSBP Asia Pacific Regional Congress of Biological Psychiatry
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] Resequencing of the SETD1A gene in Japanese patients with schizophrenia2018

    • Author(s)
      Hoya S, Igeta H, Watanabe Y, Nunokawa A, Inoue E, Shibuya M, Egawa J, Someya T:
    • Organizer
      WFSBP Asia Pacific Regional Congress of Biological Psychiatry
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research

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Published: 2016-10-04   Modified: 2021-02-19  

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