Ontology highlight
ABSTRACT:
SUBMITTER: Belyantseva IA
PROVIDER: S-EPMC283528 | biostudies-literature | 2003 Nov
REPOSITORIES: biostudies-literature
Belyantseva Inna A IA Boger Erich T ET Friedman Thomas B TB
Proceedings of the National Academy of Sciences of the United States of America 20031110 24
Mutations of the gene encoding unconventional myosin XVa are associated with sensorineural deafness in humans (DFNB3) and shaker (Myo15sh2) mice. In deaf Myo15sh2/sh2 mice, stereocilia are short, nearly equal in length, and lack myosin XVa immunoreactivity. We previously reported that myosin XVa mRNA and protein are expressed in cochlear hair cells. We now show that in the mouse, rat, and guinea pig, endogenous myosin XVa localizes to the tips of the stereocilia of the cochlear and vestibular ha ...[more]