| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2013: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| 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.
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