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Vision research

The expression of whirlin and Cav1.3α₁ is mutually independent in photoreceptors.


PMID 22892111

Abstract

Whirlin is a gene responsible for Usher syndrome type II (USH2) and congenital deafness. In photoreceptors, it organizes a protein complex through binding to proteins encoded by other USH2 genes, usherin (USH2A) and G-protein-coupled receptor 98 (GPR98). Recently, Ca(v)1.3α(1) (α(1D)) has been discovered to interact with whirlin in vitro and these two proteins are localized to the same subcellular compartments in photoreceptors. Accordingly, it is proposed that Ca(v)1.3α(1) is in the USH2 protein complex and that the USH2 protein complex is involved in regulating Ca(2+) in photoreceptors. To test this hypothesis, we investigated the interdependence of Ca(v)1.3α(1) and whirlin expression in photoreceptors. We found that lack of Ca(v)1.3α(1) did not change the whirlin distribution or expression level in photoreceptors. In the retina, several Ca(v)1.3α(1) splice variants were found at the RNA level. Among them, the whirlin-interacting Ca(v)1.3α(1) long variant had no change in its protein expression level in the absence of whirlin. The localization of Ca(v)1.3α(1) in photoreceptors, published previously, cannot be confirmed. Therefore, the mutual independence of whirlin and Ca(v)1.3α(1) expressions in photoreceptors suggests that Ca(v)1.3α(1) may not be a key member of the USH2 protein complex at the periciliary membrane complex.