Functional analysis of N-TAF1, the disease causative gene of X-linked recessive dystonia-parkinsonism

• Project/Area Number: 20790266
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Human genetics
• Research Institution: Shiga University of Medical Science
• Principal Investigator: MAKINO Satoshi Shiga University of Medical Science, 分子神経科学研究センター (30423403)
• Project Period (FY): 2008 – 2009
• Project Status: Completed (Fiscal Year 2009)
• Budget Amount: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000); Fiscal Year 2009: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000); Fiscal Year 2008: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
• Keywords: ゲノム医科学 / 遺伝子 / 核酸 / 脳・神経 / 発現制御

Research Abstract

We previously found a neuron-specific isoform of the TAF1, which is the disease causative gene of X-linked recessive dystonia-parkinsonism. To investigate the function of the neuron-specific isoform of the TAF1 gene, we carried out expression analysis in mouse brain and over-expression of N-TAF1 in cultured cell lines. We demonstrated that N-TAF1 varies from TAF1 gene in expression pattern, probably reflecting the difference in physiological roles between N-TAF1 and TAF1.

Research Products

• [Journal Article] The mRNA Distribution of C7orf24, a Gamma-glutamyl Cyclotransferase, in Rat Tissues (2009)
  • Author(s): Oda K, Makino S, Masuda C, Yoshiki T, Kitamura Y, Takata K, Yanagisawa D, Taniguchi T, Tooyama I
  • Journal Title: J Histochem Cytochem. 57巻12号 Pages: 1121-1126
  • Peer Reviewed
• [Journal Article] The mRNA Distribution of C7orf24, a Gamma-glutamyl Cyclotransferase, in Rat Tissues. (2009)
  • Author(s): Oda K, Makino S, et al.
  • Journal Title: The Journal of Histochemistry & Cytochemistry 57 Pages: 1121-1126
  • Peer Reviewed
• [Presentation] Intracellular function of neuron-specific TAF1 and its isoform in Neuro-2a mouse neuroblastoma cells (2009)
  • Author(s): Makino S, Tamiya G, Tooyama I
  • Organizer: The American Society of Human Genetics 2009 Annual Meeting
  • Place of Presentation: アメリカ・ホノルル
  • Year and Date: 2009-10-22
• [Presentation] Intracellular function of neuron-specific TAF1 and its isoform in Neuro-2a mouse neuroblastoma cells. (2009)
  • Author(s): Satoshi Makino, Gen Tamiya, Ikuo Tooyama
  • Organizer: The American Society of Human Genetics 2009 Annual Meeting
  • Place of Presentation: アメリカ・ホノルル
  • Year and Date: 2009-10-22
• [Presentation] Genomic Sequence Analysis of the HMSN-P region on human chromoso-me 3q13 (2008)
  • Author(s): Makino S, Maeda K, Jamiyansuren J, Yasuno K, Kaji R, Tamiya G.
  • Organizer: The American Society of Human Genetics 2008 Annual Meeting
  • Place of Presentation: アメリカ・フィラデルフィア
  • Year and Date: 2008-11-13