Fig. 9: Schematic summarizing the role of mutant usherin in impacting the structure of the periciliary membrane complex. | Nature Communications

Fig. 9: Schematic summarizing the role of mutant usherin in impacting the structure of the periciliary membrane complex.

From: The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1

Fig. 9

A In the WT photoreceptor cells, the PMC is intact, facilitating the efficient loading of cargo, including rhodopsin, into the CC. Rhodopsin is destined to the OS. B In the Ush2adelG/delG photoreceptor, the PMC is disrupted. WHRN and VLGR1 are trapped in the inner segment in vesicles, no longer able to localize at the ciliary pocket. WHRN is mislocalized towards the OS and inner segment. The disruption of the PMC decreases the loading efficacy of rhodopsin in the CC and thus impacts its transport toward the OS. Additionally, a huge portion of the mutant usherin is trapped in the ER, causing cellular stress. PMC periciliary membrane complex, OS outer segment, IS inner segment, Rho rhodopsin, ER endoplasmic reticulum, CC connecting cilium. Created with BioRender.com.

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