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Publication : Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3.

First Author  Bok D Year  2003
Journal  Nat Genet Volume  34
Issue  3 Pages  313-9
PubMed ID  12808454 Mgi Jnum  J:86635
Mgi Id  MGI:2680888 Doi  10.1038/ng1176
Citation  Bok D, et al. (2003) Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3. Nat Genet 34(3):313-9
abstractText  Normal sensory transduction requires the efficient disposal of acid (H+) generated by neuronal and sensory receptor activity. Multiple highly sensitive transport mechanisms have evolved in prokaryotic and eukaryotic organisms to maintain acidity within strict limits. It is currently assumed that the multiplicity of these processes provides a biological robustness. Here we report that the visual and auditory systems have a specific requirement for H+ disposal mediated by the sodium bicarbonate cotransporter NBC3 (refs. 7,8). Mice lacking NBC3 develop blindness and auditory impairment because of degeneration of sensory receptors in the eye and inner ear as in Usher syndrome. Our results indicate that in certain sensory organs, in which the requirement to transduce specific environmental signals with speed, sensitivity and reliability is paramount, the choice of the H+ disposal mechanism used is limited.
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