| Project/Area Number |
15K20239
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Otorhinolaryngology
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| Research Institution | Tokyo Metropolitan Institute of Medical Science |
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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)
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| Research Collaborator |
KIKKAWA Yoshiaki 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, プロジェクトリーダー (20280787)
SHITARA Hiroshi 公益財団法人東京都医学総合研究所, 基盤技術研究センター, 主席基盤技術研究職員 (90321885)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | Usher症候群 / 平面内細胞極性 / 不動毛 / マウス / 難聴 / 遺伝学 / 遺伝性難聴 / 極性異常 |
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| Outline of Final Research Achievements |
Sans and Whirlin genes encode scaffold proteins that are known to play a key role in the development of stereocilia in inner ear hair cells. We have found that Sans and Whirlin double-mutant mice showed abnormal polarization of stereocilia. To investigate the mechanisms of the abnormal polarization of stereocilia, we performed comparative phenotypic and gene expression analyses among wild-type mice as well as single- and double-mutant mice carrying mutations in Sans and Whirlin. In the phenotypic analysis, we found that Sans and Whirlin double-mutant mice developed significant mislocalization of kinocilia, although single mutants of either genes showed normal localization of the kinocilia. RNA-seq was also used to also detect specific gene expression changes in the double-mutant mice. Thirty-nine genes were significantly changed in the cochlea of the double-mutant mice. Moreover, we identified a gene associated with the Wnt/PCP signaling pathway in the protein-coding genes.
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