The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene
The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene
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DOI：
10.1038/83837
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发表时间：
2001-01-01
期刊：
影响因子：
30.8
通讯作者：
Woychik, RP
中科院分区：
文献类型：
--
作者：
Alagramam, KN;Murcia, CL;Woychik, RP
内耳的神经上皮含有毛细胞，它们充当机械感受器来转换声音和运动信号。影响这些神经上皮的突变会导致人类耳聋和前庭功能障碍(1-3)。 Ames waltzer (av) 是一种在小鼠中发现的隐性突变，可导致耳聋和与内耳神经上皮变性相关的平衡障碍。在这里，我们报道了带有av突变的基因编码了一种新型的原钙粘蛋白。 av 突变体的耳蜗毛细胞在出生后 10 天时表现出异常的静纤毛 (P10)。这是哺乳动物内耳正常功能需要原钙粘蛋白的第一个证据。
The neuroepithelia of the inner ear contain hair cells that function as mechanoreceptors to transduce sound and motion signals. Mutations affecting these neuroepithelia cause deafness and vestibular dysfunction in humans(1-3). Ames waltzer (av) is a recessive mutation found in mice that causes deafness and a balance disorder associated with the degeneration of inner ear neuroepithelial. Here we report that the gene that harbours the av mutation encodes a novel protocadherin. Cochlear hair cells in the av mutants show abnormal stereocilia by 10 days after birth (P10). This is the first evidence for the requirement of a protocadherin for normal function of the mammalian inner ear.