The analysis of congenital DNA-repair abnormality with cerebellar degeneration

2010 Fiscal Year Final Research Report

• Project/Area Number: 20591220
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Gifu University
• Principal Investigator: ORII Kenji Gifu University, 医学部附属病院, 准教授 (30332688)
• Project Period (FY): 2008 – 2010
• Keywords: 小児神経学 / 小脳変性症

Research Abstract

The signal transduction from complex of ATM, Mre11, and NBS1 are important for brain development during embryonic period. We searched the common target of protein complex of Rad50, Mre11 and NBS1. We tried to find the important proteins for brain development and cerebellar degeneration. We found several proteins which interact with Mre11-NBS1-Rad50 complex. We studied those protein function in the cells using overexpressing system, siRNA system and so on. We also found the binding sites which were important for interacting with the Mre11-NBS1-Rad50 complex. We used those data for protein structure analysis to understand about protein functions.

Research Products

• [Journal Article] STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. (2010)
  • Author(s): Hirotomo Saitsu, Mitsuhiro Kato, Ippei Okada, Kenji E. Orii, Tsukasa Higuchi, Hideki Hoshino, Masaya Kubota, Hiroshi Arai, Tstsuzo Tagawa, Shigeru Kimura, Akira Sudo, Sahoko Miyama, Yuichi Takami, Toshihide Watanabe, Akira Nishimura, Kiyomi Nishimura, Noriko Miyake, Takahito Wada, Hitoshi Osaka, Naomi Kondo, Kiyoshi Hayasaka, Naomichi Matsumoto
  • Journal Title: Epilepsia Vol.51 Pages: 1528-1168
• [Journal Article] Developmental changes of radiological findings in Fukuyama-type congenital muscular dystrophy. (2010)
  • Author(s): Zenichiro Kato, Masahiro Morimoto, Kenji E, Orii, Tomomi Kato, Naomi Kondo
  • Journal Title: Pediatric Radiology. Vol 40 supple Pages: S127-S129
• [Journal Article] Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency. (2009)
  • Author(s): Pierre-Olivier Frappart, Youngsoo Lee, Helen R Russell, Nader Chalhoub, Yong-Dong Wang, Kenji E.Orii Jingfeng Zhao, Naomi Kondo, Suzanne J.Baker, Peter J.McKinnon
  • Journal Title: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATE S OF AMERICA Vol 106 Pages: 1880-1885
• [Journal Article] Masahiro Shirakawa Structural basis for the multiple interactions of the Myd88 TIR domain in TLR4 signaling (2009)
  • Author(s): Hidenori Ohnishi, Hidehiko Tochio, Zenichiro Kato, Rend E.Orii, Ailian Li, Takeshi Kimura Hidekazu Hiroaki, Naomi Kondo
  • Journal Title: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA Vol 106 Pages: 10260-10265
• [Remarks] ホームページ等