Vestibular Defects in Head-tilt Mice Result from Mutations in Nox3, Encoding an NADPH Oxidase

Overview

Journal Genes Dev

Specialty Molecular Biology

Date 2004 Mar 12

PMID 15014044

Citations 110

Authors

Rainer Paffenholz

Rebecca A Bergstrom

Francesca Pasutto

Philipp Wabnitz

Robert J Munroe

Wolfgang Jagla

Ulrich Heinzmann

Andreas Marquardt

Armin Bareiss

Jurgen Laufs

Andreas Russ

Gabriele Stumm

John C Schimenti

David E Bergstrom

Affiliations

Soon will be listed here.

Abstract

The vestibular system of the inner ear is responsible for the perception of motion and gravity. Key elements of this organ are otoconia, tiny biomineral particles in the utricle and the saccule. In response to gravity or linear acceleration, otoconia deflect the stereocilia of the hair cells, thus transducing kinetic movements into sensorineural action potentials. Here, we present an allelic series of mutations at the otoconia-deficient head tilt (het) locus, affecting the gene for NADPH oxidase 3 (Nox3). This series of mutations identifies for the first time a protein with a clear enzymatic function as indispensable for otoconia morphogenesis.

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