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| Item Type: | Article |
|---|---|
| Title: | KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness |
| Creators Name: | Kubisch, C., Schroeder, B.C., Friedrich, T., Luetjohann, B., El-Amraoui, A., Marlin, S., Petit, C. and Jentsch, T.J. |
| Abstract: | Potassium channels regulate electrical signaling and the ionic composition of biological fluids. Mutations in the three known genes of the KCNQ branch of the K+ channel gene family underlie inherited cardiac arrhythmias (in some cases associated with deafness) and neonatal epilepsy. We have now cloned KCNQ4, a novel member of this branch. It maps to the DFNA2 locus for a form of nonsyndromic dominant deafness. In the cochlea, it is expressed in sensory outer hair cells. A mutation in this gene in a DFNA2 pedigree changes a residue in the KCNQ4 pore region. It abolishes the potassium currents of wild-type KCNQ4 on which it exerts a strong dominant-negative effect. Whereas mutations in KCNQ1 cause deafness by affecting endolymph secretion, the mechanism leading to KCNQ4-related hearing loss is intrinsic to outer hair cells. |
| Keywords: | Amino Acid Sequence, Chromosome Mapping, Molecular Cloning, Complementary DNA, Inner Ear, Gene Expression Regulation, Dominant Genes, Outer Auditory Hair Cells , Sensorineural Hearing Loss, KCNQ Potassium Channels, Molecular Sequence Data, Mutation, Oocytes, Pedigree, Voltage-Gated Potassium Channels, Animals, Mice, Xenopus Laevis |
| Source: | Cell |
| ISSN: | 0092-8674 |
| Publisher: | Cell Press |
| Volume: | 96 |
| Number: | 3 |
| Page Range: | 437-446 |
| Date: | 5 February 1999 |
| Official Publication: | https://doi.org/10.1016/S0092-8674(00)80556-5 |
| PubMed: | View item in PubMed |
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