Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26
J Zhang, SS Scherer, SW Yum - Molecular and Cellular Neuroscience, 2011 - Elsevier
Mutations in GJB2, the gene encoding the human gap junction protein connexin26 (Cx26),
cause either non-syndromic hearing loss or syndromes affecting both hearing and skin. We
have investigated whether dominant Cx26 mutants can interact physically with wild type
Cx26. HeLa cells stably expressing wild type Cx26 were transiently transfected to co-
express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing
loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing …
cause either non-syndromic hearing loss or syndromes affecting both hearing and skin. We
have investigated whether dominant Cx26 mutants can interact physically with wild type
Cx26. HeLa cells stably expressing wild type Cx26 were transiently transfected to co-
express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing
loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing …