title: RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.
abstract: RPGRIP1 encodes the retinitis pigmentosa GTPase interacting protein 1 and interacts with RPGR, the latter represents the major X-linked RP (XRRP) gene, as it accounts for 70-80% of the XRRP patients and up to 13% of all RP patients. RPGRIP1 contains a C-terminal RPGR interacting domain (RID) and a coiled-coil (CC) domain, which is homologous to proteins involved in vesicular trafficking. The interactions between the two proteins is between the RCC1-homologous domain of RPGR (RHD) and the RPGR-interacting domain of RPGRIP1 (RID). Both proteins co-localize to the photoreceptor connecting cilium and RPGRIP1 appears to be a structural component of the ciliary axoneme of the connecting cilium (which connects the inner to the outer segment of the photoreceptors) of both rods and cones and functions to anchor RPGR within the cilium.RPGRIP1 loci encode several different isoforms, which have distinct cellular, sub cellular and biochemical properties. RPGRIP1 is uniquely expressed in amacrine cells of the inner retina. Knockout mice studies have shown that RPGRIP1 is required for disc morphogenesis of the outer segments in the mouse, perhaps by regulating cytoskeleton dynamics. Thus far RPGRIP1 appears to be only mutated in LCA and is associated with 6% of LCA in two series. The purpose of this review is to highlight recent advances in our understanding of RPGRIP1 function in normal and diseased retinas.
authors.affiliation: McGill Ocular Genetics Laboratory, Montreal Children's Hospital Research Institute, McGill University Health Center, Montreal, Canada. Robert.koenekoop@muhc.mcgill.ca
authors.forename: Robert K
authors.initials: RK
authors.lastname: Koenekoop
mesh_terms: D001766:Blindness / Q000151:congenital* / Q000235:genetics*; D003598:Cytoskeletal Proteins; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics*
chemical_list: D003598:Cytoskeletal Proteins; D011506:Proteins; C415903:RPGRIP1 protein, human