期刊
NATURE GENETICS
卷 27, 期 1, 页码 99-102出版社
NATURE AMERICA INC
DOI: 10.1038/83837
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资金
- NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS [R01DC003420] Funding Source: NIH RePORTER
- NICHD NIH HHS [HD07104] Funding Source: Medline
- NIDCD NIH HHS [1RO1-DC03420] Funding Source: Medline
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.
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