Date: 28 Dec 2009

Multiprotein Complexes of Retinitis Pigmentosa GTPase Regulator (RPGR), a Ciliary Protein Mutated in X-Linked Retinitis Pigmentosa (XLRP)

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Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR) are a frequent cause of X-linked Retinitis Pigmentosa (XLRP). The RPGR gene undergoes extensive alternative splicing and encodes for distinct protein isoforms in the retina. Extensive studies using isoform-specific antibodies and mouse mutants have revealed that RPGR predominantly localizes to the transition zone to primary cilia and associates with selected ciliary and microtubule-associated assemblies in photoreceptors. In this chapter, we have summarized recent advances on understanding the role of RPGR in photoreceptor protein trafficking. We also provide new evidence that suggests the existence of discrete RPGR multiprotein complexes in photoreceptors. Piecing together the RPGR-interactome in different subcellular compartments should provide critical insights into the role of alternative RPGR isoforms in associated orphan and syndromic retinal degenerative diseases.

Retinitis Pigmentosa (RP: MIM #268000) is a leading cause of inherited blindness in developed countries. RP refers to a group of debilitating neurodegenerative diseases with clinically heterogeneous findings, which include bone spicule like pigmentary deposits in the retina, progressive loss of peripheral vision and eventually deterioration of central vision due to cone loss (Bird 1987; Fishman et al. 1988; Heckenlively et al. 1988; Sullivan and Daiger 1996). Over 30 RP genes have been identified so far ( (Hartong et al. 2006). No effective approach exists for the management or treatment of RP.