Connexin mutations in deafness

Thomas W. White, Michael R. Deans, David P. Kelsell and David L. Paul ()
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Thomas W. White: Harvard Medical School
Michael R. Deans: Harvard Medical School
David P. Kelsell: Centre for Cutaneous Research, St Bartholomews and the Royal London Hospital
David L. Paul: Harvard Medical School

Nature, 1998, vol. 394, issue 6694, 630-631

Abstract: Abstract Genetic deafness is one of the most prevalent inherited sensory disorders, affecting about 1 in 2,000 children. Mutations in the connexin 26 gene have been associated with autosomal recessive non-syndromic deafness (DFNB1)1. The connexin 26 gene is a member of the connexin family of genes, which encode intercellular channels comprising gap junctions2, and it is abundantly expressed in the organ of Corti1,3. Here we test the channel-forming ability of mutant connexin 26 proteins using a well-characterized in vitro system for functional expression of connexin channels4. We find that mutant connexin 26 proteins can act as dominant inhibitors of wild-type connexin 26 channel activity.

Date: 1998
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DOI: 10.1038/29202

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