Abstract
Ciliopathies encompass a group of genetic disorders characterized by defects in the formation, maintenance, or function of cilia. Retinitis pigmentosa (RP) is frequently one of the clinical features presented in diverse ciliopathies. RP is a heterogeneous group of inherited retinal disorders, characterized by the death of photoreceptors and affecting more than one million individuals worldwide. The retinitis pigmentosa GTPase regulator (RPGR) gene is mutated in up to 20% of all RP patients. RPGR protein has different interacting partners to function in ciliary protein trafficking. In this review, we specifically focus on RPGR and its two interacting proteins: RPGRIP1 and RPGRIP1L. We summarize the function of the three proteins and highlight recent studies that provide insight into the cellular function of those proteins.
Highlights
IntroductionHair-like structures protruding from the cell surface
The expression of RPGR interacting protein 1 (RPGRIP1) is restricted to the retina, but RPGRIP1L is detected in retina and other tissues [35, 41, 51, 52]
Previous reports predicted there is a putative Ca2+-binding site in RPGRIP1 Cterminal conserved region 2 (C2) (C2-C) domain, but the recent crystal structure of retinitis pigmentosa GTPase regulator (RPGR)-interacting domain of RPGRIP1 did not support the prediction [54, 55]. Both RPGRIP1 and RPGRIP1L interact with NPHP4, whose mutations result in nephronophthisis [51, 55]
Summary
Hair-like structures protruding from the cell surface They are highly conserved organelles and serve a variety of sensory functions in both unicellular and multicellular organisms. The anterograde movement is slower than the retrograde movement, there is no accumulation of IFT particle in the distal tip of the cilium, suggesting cargo loading and release, IFT particle turn-around, and motor exchange are well regulated at the base and tip of cilia [10]. Cones are responsible for colour or day vision (photopic vision) They are much less sensitive than rods and generate signals at higher levels of light. The molecular processes like IFT or vesicle trafficking observed in primary cilia are conserved in photoreceptor outer segments (Figure 1)
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