Responsible gene identification and elucidation of molecular interaction to participate in the stereocilia formation based on mouse forward genetics

• Project/Area Number: 23890253
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Otorhinolaryngology
• 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)
• 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)
• Project Period (FY): 2011 – 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000); Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2011: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
• Keywords: 遺伝学 / 遺伝子 / ゲノム / 遺伝性難聴 / 難聴モデルマウス / Myosin VI

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.

Research Products

• [Journal Article] Advantages of a mouse model for human hearing impairment (2012)
  • Author(s): Yoshiaki Kikkawa
  • Journal Title: EXPERIMENTAL ANIMALS Volume: 61 Pages: 85-98
  • Peer Reviewed
• [Presentation] A new spontaneous mutation in the mouse Myosin VI gene (2013)
  • Author(s): Yuta Seki, Kunie Matsuoka, Sari Suzuki, Yuki Miyasaka, Yasuhiro Oshiba, Kenta Wada, Hirohide Takebayashi, Yoshiaki Kikkawa
  • Organizer: 9th Molecular Biology of Hearing & Deafness Conference
  • Place of Presentation: Stanford School of Medicine
• [Presentation] 内耳有毛細胞のstereocilia形成・維持に異常を示す2つのMyosin VI突然変異アレルの同定 (2012)
  • Author(s): 関 優太
  • Organizer: 第26回モロシヌス研究会
  • Place of Presentation: 東京大学
  • Year and Date: 2012-06-15
• [Presentation] 内耳有毛細胞の不動毛形成・維持に必須なMyosin VIアイソフォームの存在 (2012)
  • Author(s): 関 優太
  • Organizer: 日本実験動物科学・技術 九州2012(第59回日本実験動物学会総会、第46回日本実験動物技術者協会総会)
  • Place of Presentation: 別府国際コンベンションセンター
  • Year and Date: 2012-05-24
• [Presentation] 内耳有毛細胞の不動毛形成・維持に必須なMyosin VIアイソフォームの存在. (2012)
  • Author(s): 関 優太，鈴木沙理，和田健太，若菜茂晴，中潟直己，竹林浩秀，吉川欣亮
  • Organizer: 第59回日本実験動物学会総会
  • Place of Presentation: 別府国際コンベンションセンター
• [Presentation] 行動異常および難聴を示す新規 マウス突然変異体の原因遺伝子の同定 (2011)
  • Author(s): 関 優太
  • Organizer: 北海道実験動物研究会・日本実験動物技術者協会北海道支部 合同学術集会
  • Place of Presentation: 北海道大学
  • Year and Date: 2011-07-09
• [Presentation] 行動異常および難聴を示す新規マウス突然変異体の原因遺伝子の同定 (2011)
  • Author(s): 関優太
  • Organizer: 北海道実験動物研究会・日本実験動物技術者協会北海道支部合同学術集会
  • Place of Presentation: 北海道大学
  • Year and Date: 2011-07-09
• [Remarks]
  • URL: http://www.igakuken.or.jp/mammal/