当前位置： SCI文献检索 > HUMAN MOLECULAR GENETICS期刊下所有文献 > The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.

Abstract：

:Mutations in the DFNB31 gene encoding the PDZ scaffold protein whirlin are causative for hearing loss in man and mouse. Whirlin is known to be essential for the elongation process of the stereocilia of sensory hair cells in the inner ear, though its complete spatial and temporal expression patterns remained elusive. Here, we demonstrate that, in embryonic development, the gene is not only expressed in the inner ear, but also in the developing brain and the retina. Various isoforms of whirlin are widely and differentially expressed, and we provide evidence that whirlin directly associates with USH2A isoform b and VLGR1b, two proteins that we previously reported to be part of the Usher protein interactome. These proteins co-localize with whirlin at the synaptic regions of both photoreceptor cells and outer hair cells in the cochlea. These findings indicate that whirlin is part of a macromolecular PDZ protein scaffold that functions in the organization of the pre- and/or postsynaptic side of photoreceptor and hair cell synapses. Whirlin might be involved in synaptic adhesion through interaction with USH2A and VLGR1b as well as in synaptic development as suggested by its spatial and temporal expression patterns. In addition, we demonstrate that whirlin, USH2A and Vlgr1b co-localize at the connecting cilium and the outer limiting membrane of photoreceptor cells and in spiral ganglion neurons of the inner ear. Our data show that whirlin is connected to the dynamic Usher protein interactome and indicate that whirlin has a pleiotropic function in both the retina and the inner ear.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

van Wijk E,van der Zwaag B,Peters T,Zimmermann U,Te Brinke H,Kersten FF,Märker T,Aller E,Hoefsloot LH,Cremers CW,Cremers FP,Wolfrum U,Knipper M,Roepman R,Kremer H

doi

10.1093/hmg/ddi490

subject

Has Abstract

pub_date

2006-03-01 00:00:00

pages

751-65

issue

5

eissn

0964-6906

issn

1460-2083

pii

ddi490

journal_volume

15

pub_type

杂志文章

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