Roles of AUTS2 in development and evolution of the brain

• Project/Area Number: 16K14570
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Nerve anatomy/Neuropathology
• Research Institution: National Center of Neurology and Psychiatry
• Principal Investigator: HOSHINO MIKIO 国立研究開発法人国立精神・神経医療研究センター, 神経研究所 病態生化学研究部, 部長 (70301273)
• Project Period (FY): 2016-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000); Fiscal Year 2016: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
• Keywords: 脳・神経 / 進化 / 精神疾患 / 遺伝子 / 神経科学 / 発生・分化 / 解剖学 / 発現制御 / ゲノム

Outline of Final Research Achievements

The AUTS2 gene is related to various disorders, such as autism, schizophrenia and language disability. We generated the conditional knockout mice for AUTS2 in the telencephalon. The number of synapses in vitro and in vivo was significantly affected in the cKO mice. Ultrasonic vocalization was also abnormal in the cKO mice. We identified the enhancer of the AUTS2 gene for the expression in the prefrontal cortex.

Research Products

• [Journal Article] Pathologic Active mTOR Mutation in Brain Malformation with Intractable Epilepsy Leads to Cell-Autonomous Migration Delay (2017)
  • Author(s): Hanai S, Sukigara S, Dai H, Owa T, Horike SI, Otsuki T, Saito T, Nakagawa E, Ikegaya N, Kaido T, Sato N, Takahashi A, Sugai K, Saito Y, Sasaki M, Hoshino M, Goto YI, Koizumi S, Itoh M
  • Journal Title: The American Journal of Pathology Volume: 187 Issue: 5 Pages: 1177-1185
  • DOI: 10.1016/j.ajpath.2017.01.015
  • Peer Reviewed
• [Journal Article] Specification of Cerebellar Neurons (2016)
  • Author(s): Hoshino M
  • Journal Title: Essentials of Cerebellum and Cerebellar Disorders Volume: 1 Pages: 143-147
  • Peer Reviewed
• [Journal Article] Precerebellar Nuclei (2016)
  • Author(s): Yamada M, Hoshino M
  • Journal Title: Essentials of Cerebellum and Cerebellar Disorders Volume: 1 Pages: 63-67
  • Peer Reviewed
• [Journal Article] AUTS2(Autism Susceptibility Candidate 2) (2016)
  • Author(s): 星野幹雄
  • Journal Title: 分子精神医学 Volume: 16 Pages: 53-55
• [Presentation] 小脳神経細胞の発生プログラム (2017)
  • Author(s): 星野幹雄
  • Organizer: 2016年度 第7回小脳研究会 学術集会・総会
  • Place of Presentation: アルカディア市ヶ谷
  • Year and Date: 2017-01-20
  • Invited
• [Presentation] Role of Meis1 in the cerebellar development (2016)
  • Author(s): Owa T, Taya S, Miyashita S, Nishioka T, Kaibuchi K, Hoshino M
  • Organizer: Neuroscience2016
  • Place of Presentation: San Diego Convention Center
  • Year and Date: 2016-11-14
  • Int'l Joint Research
• [Presentation] 精神疾患関連遺伝子AUTS2の生理機能と病理 (2016)
  • Author(s): 星野幹雄
  • Organizer: 第39回日本神経科学大会シンポジウム
  • Place of Presentation: パシフィコ横浜
  • Year and Date: 2016-07-21
• [Presentation] 脳神経系の発生と精神疾患そして脳進化-Autism Susceptibility Candidate2 遺伝子の研究を通して- (2016)
  • Author(s): 星野幹雄
  • Organizer: タイムシグナルと制御シンポジウム
  • Place of Presentation: 筑波大学下田臨海実験センター
  • Year and Date: 2016-06-10
  • Invited