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Genomic structure, cochlear expression, and mutation screening of KCNK6 , a candidate gene for DFNA4 by Anand N. Mhatre; Jiang Li; Arthur F. Chen; C. Spencer Yost; Richard J.H. Smith; Christoph H. Kindler; Anil K. Lalwani is a Neuroscience article available to read on EtoBox.

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## Abstract __KCNK6__ encodes a tandem pore domain potassium channel, TWIK‐2, that maps to chromosome 19. Both STS and linkage maps established __KCNK6__ as a positional candidate gene for DFNA4, a form of autosomal dominant nonsyndromic hereditary hearing loss. Identification and characterization of __Kcnk6__ expression within the mammalian cochlea established the gene as a functional candidate for DFNA4. Identification of Twik‐2 expression in the mouse cochlea was initially established via RT‐PCR assay of cochlear RNA. Subsequent immunoblot analysis of cochlear homogenate yielded a distinct 35‐kDa band corresponding to the calculated molecular weight of the mouse Twik‐2. Immunohistochemical studies localized Twik‐2 expression in the cochlea predominantly within the stria vascularis. This vascular tissue borders the cochlear duct and is a critical regulator of potassium concentration in the endolymph. Genomic structure of TWIK‐2 was subsequently determined and shown to consist of three coding exons with splice acceptor and donor sites in accordance with the consensus GT‐AG rule. Two separate DFNA4 families were screened for __KCNK6__ sequence alterations. No mutations were found,

Who reads Genomic structure, cochlear expression, and mutation screening of KCNK6 , a candidate gene for DFNA4?

Author

Anand N. Mhatre; Jiang Li; Arthur F. Chen; C. Spencer Yost; Richard J.H. Smith; Christoph H. Kindler; Anil K. Lalwani

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0360-4012)

Published

2003

Language

EN

Field

Neuroscience (Life Sciences)