Molecular mechanism of polyalanine expansion disorders

2017 Fiscal Year Final Research Report

• Project/Area Number: 25860844
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Saitama Medical University
• Principal Investigator: OMA Yoko 埼玉医科大学, 医学部, 講師 (50507928)
• Research Collaborator: ISHIURA Shoichi 同志社大学, 生命医科学部, 教授 (10158743) ; TAKAHASHI Shuji 広島大学, 両生類研究センター, 特任准教授 (90447318) ; MURAKOSHI Takayuki 埼玉医科大学, 医学部, 教授 (60190906) ; HARAMOTO Yoshikazu 産業技術総合研究所, 創薬基盤研究部門, 主任研究員 (30540869)
• Project Period (FY): 2013-04-01 – 2018-03-31
• Keywords: ポリアラニン / トリプレットリピート / トリプレットリピート病 / ポリアミノ酸 / ポリグルタミン

Outline of Final Research Achievements

Most causative genes of polyalanine expansion disorders encode transcription factors which are expressed at early development. Expanded polyalanine tracts in these proteins may cause the loss of function of the protein or the gain of novel function. In this study, biochemical and molecular biological analyses in cultured cells were performed to reveal the molecular mechanism of these disorders. In addition, each causative protein was expressed in embryo of Xenopus laevis to analyze its effect on development.

Free Research Field

病態生化学