2012 Fiscal Year Final Research Report
Responsible gene identification and elucidation of molecular interaction to participate in the stereocilia formation based on mouse forward genetics
| Project/Area Number |
23890253
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| Research Category |
Grant-in-Aid for Research Activity Start-up
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| Allocation Type | Single-year Grants |
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| Research Field |
Otorhinolaryngology
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| Research Institution | 公益財団法人東京都医学総合研究所 (2012)
Tokyo Metropolitan Organization for Medical Research (2011) |
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Principal Investigator |
SEKI Yuta 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, 研究員 (10615636)
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| Project Period (FY) |
2011 – 2012
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| Keywords | 遺伝学 / 遺伝子 / ゲノム / 遺伝性難聴 / 難聴モデルマウス |
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| Research Abstract |
Mouse genetics research has made important contributions to the understanding of the molecular mechanisms of hearing. In this study, we have identified a missense mutation in Myosin VI in Kumamoto shaker/waltzer mouse. The mutation induced partial and incomplete splicing errors. Moreover, by immunofluorescence analysis, MYO6 was disappeared from cuticular plates and was detected the mislocalization in the fused stereocilia bundles. These results suggested possibility with observation of new stereocilia formation mechanism.
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