Functional study of Interferon Regulatory Factor 6

• Project/Area Number: 19590336
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Human genetics
• Research Institution: Nagasaki University
• Principal Investigator: KONDO Shinji Nagasaki University, 大学院・医歯薬学総合研究科, 准教授 (90398149)
• Project Period (FY): 2007 – 2008
• Project Status: Completed (Fiscal Year 2008)
• Budget Amount: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000); Fiscal Year 2008: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2007: ¥2,860,000 (Direct Cost: ¥2,200,000、Indirect Cost: ¥660,000)
• Keywords: 遺伝子 / ゲノム / 口唇口蓋裂 / IRF6 / VWS / PPS / 口蓋裂

Research Abstract

本研究はマウスや細胞を使って、インターフェロン調節因子6遺伝子(IRF6)の機能を解析することを目的にした。具体的にはIRF6遺伝子を改変したマウスの作製を行ったり、あるいは遺伝子変異を人工的にIRF6に導入し細胞に感染させた場合この遺伝子の働きが減じることなどを発見した。研究代表者はIRF6の異常がヒトでは口唇口蓋裂を引き起こすことを発見しており、この遺伝子を研究することはそれらの疾患の発症予防に役立つと考えられる。

Research Products

• [Journal Article] Precision of high-throughput single- nucleotide polymorphism genotyping with fingernail DNA (2008)
  • Author(s): Nakashima M, Tsuda M, Kinoshita A, Kishino T, Kondo S, Shimokawa O, Niikawa N, Yoshiura K
  • Journal Title: comparison with blood DNA. Clin Chem 54(10) Pages: 1746-8
  • Peer Reviewed
• [Journal Article] K : Genome- wide linkage analysis and mutation analysis of ereditary congenital blepharoptosis in a Japanese family (2008)
  • Author(s): Nakashima M, Nakano M, Hirano A, Kishino T, Kondo S, Miwa N, Niikawa N, Yoshiura
  • Journal Title: J Hum Genet Genet. 53(1) Pages: 34-41
  • Peer Reviewed
• [Journal Article] Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA : comparison with blood DNA. (2008)
  • Author(s): Nakashima M
  • Journal Title: Clin Chem 54(10) Pages: 1746-8
  • Peer Reviewed
• [Journal Article] Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family. (2008)
  • Author(s): Nakashima M
  • Journal Title: J Hum Genet 53(1) Pages: 34-41
  • Peer Reviewed
• [Journal Article] Congenital arhinia : molecular- genetic analysis of five patients (2007)
  • Author(s): Sato D, Shimokawa O, Harada N, Olsen OE, Hou JW, Muhlbauer W, Blinkenberg E, Okamoto N, Kinoshita A, Matsumoto N, Kondo S, Kishino T, Miwa N, Ariga T, Niikawa N, Yoshiura K
  • Journal Title: Am J Med Genet A 143(6) Pages: 546-5
  • Peer Reviewed
• [Journal Article] Congenital arhinia: molecular-genetic analysis of five patients (2007)
  • Author(s): Sato D
  • Journal Title: Am J Med Genet A 143(6) Pages: 546-52
  • Peer Reviewed
• [Presentation] Correlation between EGFR mutations and the effectiveness of gefitinib in patients with lung adenocarcinoma (2008)
  • Author(s): Takasu M
  • Organizer: 第58回アメリカ人類遺伝学会
  • Place of Presentation: 米国
  • Year and Date: 2008-11-13
• [Presentation] Identification of the disease gene susceptible to the progression of primary biliary cirrhosis in Japanese patients (2008)
  • Author(s): Iio N
  • Organizer: 第58回アメリカ人類遺伝学会
  • Place of Presentation: フィラデルフィア 米国
  • Year and Date: 2008-11-12
• [Presentation] The cholesterol 7 alpha- hydroxylase (CYP7A1) gene susceptible to the progression of primary biliary cirrhosis in Japanese patients (2008)
  • Author(s): 比嘉辰伍
  • Organizer: 日本薬学会第129年会
  • Place of Presentation: 京都
  • Year and Date: 2008-03-27
• [Presentation] The hepatocyte nuclear factor- 4α (HNF-4α) gene susceptible to the clinical progression of primary biliary cirrhosis in Japanese patients (2008)
  • Author(s): 野口扶美枝
  • Organizer: 日本薬学会第129年会
  • Place of Presentation: 京都
  • Year and Date: 2008-03-27
• [Presentation] Identification of the disease- susceptible gene for Crohn disease in the Japanese population (2008)
  • Author(s): Shiota M
  • Organizer: The 2nd Asian Symposium om Pharmaceutical Sciences in Nagasaki
  • Place of Presentation: 長崎
  • Year and Date: 2008-03-17