To elucidate the mechanism of stereocilia development based on functions of whirlin isoforms

2014 Fiscal Year Final Research Report

• Project/Area Number: 25861604
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Otorhinolaryngology
• Research Institution: Tokyo Metropolitan Institute of Medical Science
• Principal Investigator: YASUDA Shumpei 公益財団法人東京都医学総合研究所, ゲノム医科学研究分野, 主任研究員 (50534012)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: whirlin / 遺伝性難聴 / マウス

Outline of Final Research Achievements

Whirlin is one of the responsible genes for non-syndromic deafness and Usher syndrome type 2. Two whirlin transcript variants, such as “Long” and “Short”, were reported. In this study, I attempted to establish mutant mice strains to know the functions of both isoforms and proteins interacted with whirlin. First, I tried to detect promoter candidate regions for both isoforms. Isoforms specific candidate regions were detected which implied that expressions of both isoforms were controlled independently. To establish Short specific KO mouse strain, I attempted to delete Short specific promoter candidate region. However, the strain could not be established. Second, yeast two-hybrid analysis using short isoform as bait suggested that seven proteins were interact with whirlin. Limk2, one of seven proteins, have four isoforms. In this study, I found that mRNA of Limk2c, one of four isoforms, was specifically expressed in brain, inner ear and eye.

Free Research Field

遺伝学