A TYPE-VII MYOSIN ENCODED BY THE MOUSE DEAFNESS GENE SHAKER-1
A TYPE-VII MYOSIN ENCODED BY THE MOUSE DEAFNESS GENE SHAKER-1
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DOI：
10.1038/374062a0
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发表时间：
1995-03-02
期刊：
影响因子：
64.8
通讯作者：
BROWN, SDM
中科院分区：
文献类型：
--
作者：
GIBSON, F;WALSH, J;BROWN, SDM
遗传性耳聋很常见，每2000个新生儿中就有1个耳聋。其中许多表现出内耳感觉神经上皮的原发性异常，正如一些听力受损的小鼠突变体一样，这表明参与感觉传导的基因可能受到影响。在这里，我们报告了一个这样的基因，小鼠摇床-1 （sh1）基因的鉴定。由于前庭功能障碍，Shaker-1纯合子表现出过度活跃、头部晃动和旋转，并伴有典型的神经上皮型耳蜗缺陷，涉及Corti器官的功能障碍和进行性变性（2-7）。sh1基因编码一种非常规的VII型家族肌球蛋白分子。描述了三个突变，两个错义突变和一个剪接受体位点突变，都在编码肌凝蛋白头的区域。由sh1编码的肌球蛋白VII型分子是第一个被确定的，由于其突变，参与听觉转导的分子。
GENETIC deafness is common, affecting about 1 in 2,000 births(1). Many of these show primary abnormalities of the sensory neuroepithelia of the inner ear, as do several hearing-impaired mouse mutants, suggesting that genes involved in sensory transduction could be affected. Here we report the identification of one such gene, the mouse shaker-1 (sh1) gene. Shaker-1 homozygotes show hyperactivity, head-tossing and circling due to vestibular dysfunction, together with typical neuroepithelial-type cochlear defects involving dysfunction and progressive degeneration of the organ of Corti(2-7). The sh1 gene encodes an unconventional myosin molecule of the type VII family. Three mutations are described, two missense mutations and a splice acceptor site mutation, all in the region encoding the myosin head. The myosin type VII molecule encoded by sh1 is the first molecule to be identified that is known, by virtue of its mutations, to be involved in auditory transduction.