Neuron-Specific Function of N-TAF1, the disease causative gene of Hereditary Dystonia(DYT3)

2011 Fiscal Year Final Research Report

• Project/Area Number: 22790332
• 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 滋賀医科大学, 分子神経科学研究センター, 特任助教 (30423403)
• Project Period (FY): 2010 – 2011
• Keywords: ゲノム医科学

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 over-expression of TAF1 in neuronal and non-neuronal cultured cell lines. We demonstrated that the localization pattern of TAF1 is different between neuronal and non-neuronal cell. And we performed knockdown of either TAF1 or N-TAF1 using siRNA. The microarray analysis showed some candidate gene which might be regulated by N-TAF1.

Research Products

• [Journal Article] Expression and Localization of TRK-Fused Gene Products in the Rat Brain and Retina (2012)
  • Author(s): Maebayashi H, Takeuchi S, Masuda C, Makino S, Fukui K, Kimura H, Tooyama I.
  • Journal Title: Acta Histochem Cytochem Volume: 45巻1号 Pages: 15-23
  • Peer Reviewed
• [Journal Article] Infiltration of T lymphocytes and expression of icam-1 in the hippocampus of patients with hippocampal sclerosis (2010)
  • Author(s): Nakahara H, Konishi Y, Beach TG, Yamada N, Makino S, Tooyama I.
  • Journal Title: Acta Histochem Cytochem Volume: 43巻6号 Pages: 157-162
  • DOI: DOI:10.1267/ahc.10022
  • Peer Reviewed
• [Presentation] Neuron-specific enhanced expression of TAF1 and its isoform (2010)
  • Author(s): Makino S, Tamiya G, Tooyama I.
  • Organizer: The American Society of Human Genetics 2010 Annual Meeting
  • Place of Presentation: アメリカ合衆国・ワシントンD. C.
  • Year and Date: 2010-11-05