Article
A novel splice site mutation of myosin VI in mice leads to stereociliary fusion caused by disruption of actin networks in the apical region of inner ear hair cells.
PloS one - 1 Jan 2017
Seki Yuta, Miyasaka Yuki, Suzuki Sari, Wada Kenta, Yasuda Shumpei P, Matsuoka Kunie, Ohshiba Yasuhiro, Endo Kentaro, Ishii Rie, Shitara Hiroshi, Kitajiri Shin-Ichiro, Nakagata Naomi, Takebayashi Hirohide, Kikkawa Yoshiaki
Abstract excerpt
An unconventional myosin encoded by the myosin VI gene (MYO6) contributes to hearing loss in humans. Homozygous mutations of MYO6 result in nonsyndromic profound congenital hearing loss, DFNB37. Kumamoto shaker/waltzer (ksv) mice harbor spontaneous mutations, and homozygous mutants exhibit congenital defects in balance and hearing caused by fusion of the stereocilia. We identified a Myo6c.1381G>A mutation that...
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