Retinitis Pigmentosa GTPase Regulator (RPGR) Protein Isoforms in Mammalian Retina: Insights into X-linked Retinitis Pigmentosa and Associated Ciliopathies

Overview

Journal Vision Res

Specialty Ophthalmology

Date 2007 Oct 2

PMID 17904189

Citations 38

Authors

Shirley He

Sunil K Parapuram

Toby W Hurd

Babak Behnam

Ben Margolis

Anand Swaroop

Hemant Khanna

Affiliations

Soon will be listed here.

Abstract

Mutations in the cilia-centrosomal protein Retinitis Pigmentosa GTPase Regulator (RPGR) are a frequent cause of retinal degeneration. The RPGR gene undergoes complex alternative splicing and encodes multiple protein isoforms. To elucidate the function of major RPGR isoforms (RPGR 1-19 and RPGR ORF15), we have generated isoform-specific antibodies and examined their expression and localization in the retina. Using sucrose-gradient centrifugation, immunofluorescence and co-immunoprecipitation methods, we show that RPGR isoforms localize to distinct sub-cellular compartments in mammalian photoreceptors and associate with a number of cilia-centrosomal proteins. The RCC1-like domain of RPGR, which is present in all major RPGR isoforms, is sufficient to target it to the cilia and centrosomes in cultured cells. Our findings indicate that multiple isotypes of RPGR may perform overlapping yet somewhat distinct transport-related functions in photoreceptors.

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