title: Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3.
abstract: 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.
authors.affiliation: Department of Neurobiology, Jules Stein Eye Institute, Los Angeles, California, 90095, USA.
authors.forename: Dean
authors.initials: D
authors.lastname: Bok
authors.forename: Gary
authors.initials: G
authors.lastname: Galbraith
authors.forename: Ivan
authors.initials: I
authors.lastname: Lopez
authors.forename: Michael
authors.initials: M
authors.lastname: Woodruff
authors.forename: Steven
authors.initials: S
authors.lastname: Nusinowitz
authors.forename: Hector
authors.initials: H
authors.lastname: BeltrandelRio
authors.forename: Wenhu
authors.initials: W
authors.lastname: Huang
authors.forename: Shulei
authors.initials: S
authors.lastname: Zhao
authors.forename: Robert
authors.initials: R
authors.lastname: Geske
authors.forename: Charles
authors.initials: C
authors.lastname: Montgomery
authors.forename: Isaac
authors.initials: I
authors.lastname: Van Sligtenhorst
authors.forename: Carl
authors.initials: C
authors.lastname: Friddle
authors.forename: Kenneth
authors.initials: K
authors.lastname: Platt
authors.forename: Mary Jean
authors.initials: MJ
authors.lastname: Sparks
authors.forename: Alexander
authors.initials: A
authors.lastname: Pushkin
authors.forename: Natalia
authors.initials: N
authors.lastname: Abuladze
authors.forename: Akira
authors.initials: A
authors.lastname: Ishiyama
authors.forename: Ramanath
authors.initials: R
authors.lastname: Dukkipati
authors.forename: Weixin
authors.initials: W
authors.lastname: Liu
authors.forename: Ira
authors.initials: I
authors.lastname: Kurtz
mesh_terms: D000818:Animals; D017209:Apoptosis; D001308:Auditory Perceptual Disorders / Q000209:etiology* / Q000378:metabolism; D001766:Blindness / Q000209:etiology* / Q000378:metabolism; D004596:Electroretinography; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D005451:Fluorescein Angiography; D018390:Gene Targeting; D006198:Hair Cells, Auditory / Q000378:metabolism / Q000473:pathology; D007124:Immunoenzyme Techniques; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D020419:Photoreceptor Cells, Vertebrate / Q000378:metabolism / Q000473:pathology; D012162:Retinal Degeneration / Q000209:etiology / Q000378:metabolism / Q000473:pathology; D027982:Sodium-Bicarbonate Symporters / Q000172:deficiency* / Q000502:physiology
chemical_list: C498904:Slc4a7 protein, mouse; D027982:Sodium-Bicarbonate Symporters