Target resequencing of the candidate region of the susceptibility gene for autism by using the next-generation sequencer

• Project/Area Number: 22791107
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Psychiatric science
• Research Institution: The University of Tokyo
• Principal Investigator: TOCHIGI Mamoru 東京大学, 医学部附属病院, 講師 (40456116)
• Project Period (FY): 2010 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000); Fiscal Year 2011: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2010: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
• Keywords: 自閉症 / 候補遺伝子 / 次世代シークエンサー / コピー数多型(CNV) / 遺伝子 / ゲノム / 脳神経疾患

Research Abstract

As a result of the exome sequencing of a four-generation-extending autism spectrum disorder(ASD) family, several candidate genes, which completely co-segregate with the disease, were found and may lead to a new finding. In the copy number variation(CNV) analysis of 163 trios of ASD, eight de novo CNVs(> 500kb) were found in seven trios, one of which was duplication in 15q11. 2.

Research Products

• [Presentation] エクソンシーケンスを用いた自閉症スペクトラム障害家系の遺伝解析 (2011)
  • Author(s): 桑原斉、島田隆史、文東美紀、垣内千尋、岩本和也、栃木衛、佐々木司、金生由紀子、笠井清登
  • Organizer: 第33回日本生物学的精神医学会
  • Place of Presentation: 東京
• [Presentation] Analysis of genetic inheritance in autism spectrum disorders by exome sequencing (2011)
  • Author(s): Kuwabara H, Shimada T, Bundo M, Kakiuchi C, Iwamoto K, Tochigi M, Sasaki T, Kano Y, Kasai K.
  • Organizer: International meeting for autism research 10th annual meeting
  • Place of Presentation: San Diego
• [Presentation] Analysis of genetic inheritance in autism spectrum disorders by exome sequencing (2011)
  • Author(s): Kuwabara, et al.
  • Organizer: International meeting for autism research 10^<th> annual meeting
  • Place of Presentation: San Diego, USA
• [Presentation] Analysis of genetic inheritance in autism spectrum disorders by whole exome sequencing (2010)
  • Author(s): Kuwabara H, Shimada T, Bundo M, Kakiuchi C, Iwamoto K, Tochigi M, Sasaki T, Kano Y, Kasai K.
  • Organizer: American Society of Human Genetics 60th annual meeting
  • Place of Presentation: Washington DC
• [Presentation] Exome sequencing of a multiplex family with Asperger's syndrome (2010)
  • Author(s): Kuwabara, et al.
  • Organizer: XVIII World Congress on Psychiatric Genetics
  • Place of Presentation: Athens Greece
• [Presentation] Preliminary genome-wide association study of autism in the Japanese population (2010)
  • Author(s): Shimada, et al.
  • Organizer: XVIII World Congress on Psychiatric Genetics
  • Place of Presentation: Athens Greece
• [Presentation] Analysis of genetic inheritance in autism spectrum disorders by whole exome sequencing (2010)
  • Author(s): Kuwabara, et al.
  • Organizer: American Society of Human Genetics 60^<th> annual meeting
  • Place of Presentation: Washington DC U.S.A
• [Remarks]
  • URL: http://npsy.umin.jp/her_group.html
• [Remarks]
  • URL: http://npsy.umin.jp/her_group.html