小鼠艾姆斯华尔兹听力丧失突变体是由一种新的原钙黏蛋白基因Pcdh15的突变引起的。

The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.

作者信息

Alagramam K N, Murcia C L, Kwon H Y, Pawlowski K S, Wright C G, Woychik R P

机构信息

Department of Pediatrics, Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, Ohio, USA.

出版信息

Nat Genet. 2001 Jan;27(1):99-102. doi: 10.1038/83837.

DOI:10.1038/83837

PMID:11138007

Abstract

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 dysfuction in humans. Ames waltzer (av) is a recessive mutation found in mice that causes deafness and a balance disorder associated with the degeneration of inner ear neuroepithelia. 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.

摘要

内耳的神经上皮包含毛细胞，这些毛细胞作为机械感受器发挥作用，将声音和运动信号转换为神经信号。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。艾姆斯华尔兹（av）是在小鼠中发现的一种隐性突变，它会导致耳聋以及与内耳神经上皮退化相关的平衡障碍。在此，我们报告携带av突变的基因编码一种新的原钙黏蛋白。av突变小鼠的耳蜗毛细胞在出生后10天（P10）显示出异常的静纤毛。这是原钙黏蛋白对哺乳动物内耳正常功能必不可少的首个证据。