Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.

ABSTRACT: Hearing relies on mechanically gated ion channels present in the actin-rich stereocilia bundles at the apical surface of cochlear hair cells. Our knowledge of the mechanisms underlying the formation and maintenance of the sound-receptive structure is limited. Utilizing a large-scale forward genetic screen in mice, genome mapping and gene complementation tests, we identified Clrn2 as a new deafness gene. The Clrn2^{clarinet/clarinet} mice (p.Trp4* mutation) exhibit a progressive, early-onset hearing loss, with no overt retinal deficits. Utilizing data from the UK Biobank study, we could show that CLRN2 is involved in human non-syndromic progressive hearing loss. Our in-depth morphological, molecular and functional investigations establish that while it is not required for initial fo

SUBMITTER: Dunbar LA 

PROVIDER: S-EPMC6728604 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature