A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signalling, causes progressive hearing loss

Modamio-Hoybjor, Silvia, Mencía, Ángeles, Goodyear, Richard, del Castillo, Ignacio, Richardson, Guy, Moreno, Felipe and Moreno-Pelayo, Miguel Ángel (2007) A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signalling, causes progressive hearing loss. American Journal of Human Genetics, 80 (6). pp. 1076-1089. ISSN 0002-9297

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Abstract

We previously mapped a novel autosomal dominant deafness locus, DFNA44, by studying a family with postlingual, progressive, nonsyndromic hearing loss. We report here on the identification of a mutation in CCDC50 as the cause of hearing loss in the family. CCDC50 encodes Ymer, an effector of epidermal growth factor (EGF)¿mediated cell signaling that is ubiquitously expressed in different organs and has been suggested to inhibit down-regulation of the EGF receptor. We have examined its expression pattern in mouse inner ear. Western blotting and cell transfection results indicate that Ymer is a soluble, cytoplasmic protein, and immunostaining shows that Ymer is expressed in a complex spatiotemporal pattern during inner ear development. In adult inner ear, the expression of Ymer is restricted to the pillar cells of the cochlea, the stria vascularis, and the vestibular sensory epithelia, where it shows spatial overlap with the microtubule-based cytoskeleton. In dividing cells, Ymer colocalizes with microtubules of the mitotic apparatus. We suggest that DFNA44 hearing loss may result from a time-dependent disorganization of the microtubule-based cytoskeleton in the pillar cells and stria vascularis of the adult auditory system.

Item Type: Article
Schools and Departments: School of Life Sciences > Neuroscience
Depositing User: Richard Goodyear
Date Deposited: 06 Feb 2012 19:30
Last Modified: 23 Mar 2012 14:55
URI: http://sro.sussex.ac.uk/id/eprint/20889
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