Rpgrip1l Controls Ciliary Gating by Ensuring the Proper Amount of Cep290 at the Vertebrate Transition Zone

Overview

Journal Mol Biol Cell

Specialties Cell Biology
Molecular Biology

Date 2021 Feb 24

PMID 33625872

Citations 13

Authors

Antonia Wiegering

Renate Dildrop

Christine Vesque

Hemant Khanna

Sylvie Schneider-Maunoury

Christoph Gerhardt

Affiliations

Soon will be listed here.

Abstract

A range of severe human diseases called ciliopathies is caused by the dysfunction of primary cilia. Primary cilia are cytoplasmic protrusions consisting of the basal body (BB), the axoneme, and the transition zone (TZ). The BB is a modified mother centriole from which the axoneme, the microtubule-based ciliary scaffold, is formed. At the proximal end of the axoneme, the TZ functions as the ciliary gate governing ciliary protein entry and exit. Since ciliopathies often develop due to mutations in genes encoding proteins that localize to the TZ, the understanding of the mechanisms underlying TZ function is of eminent importance. Here, we show that the ciliopathy protein Rpgrip1l governs ciliary gating by ensuring the proper amount of Cep290 at the vertebrate TZ. Further, we identified the flavonoid eupatilin as a potential agent to tackle ciliopathies caused by mutations in as it rescues ciliary gating in the absence of Rpgrip1l.

Citing Articles

Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors.

Moye A, Robichaux M, Agosto M, Rivolta C, Moulin A, Wensel T bioRxiv. 2025; .

PMID: 39896654 PMC: 11785020. DOI: 10.1101/2025.01.20.633784.

Structure, function, and research progress of primary cilia in reproductive physiology and reproductive diseases.

Long X, Chen L, Xiao X, Min X, Wu Y, Yang Z Front Cell Dev Biol. 2024; 12:1418928.

PMID: 38887518 PMC: 11180893. DOI: 10.3389/fcell.2024.1418928.

The tectonic complex regulates membrane protein composition in the photoreceptor cilium.

Truong H, Cruz-Colon K, Martinez-Marquez J, Willer J, Travis A, Biswas S Nat Commun. 2023; 14(1):5671.

PMID: 37704658 PMC: 10500017. DOI: 10.1038/s41467-023-41450-z.

Eupatilin Improves Cilia Defects in Human CEP290 Ciliopathy Models.

Corral-Serrano J, Sladen P, Ottaviani D, Rezek O, Athanasiou D, Jovanovic K Cells. 2023; 12(12).

PMID: 37371046 PMC: 10297203. DOI: 10.3390/cells12121575.

Eupatilin improves cilia defects in human CEP290 ciliopathy models.

Corral-Serrano J, Sladen P, Ottaviani D, Rezek F, Jovanovic K, Athanasiou D bioRxiv. 2023; .

PMID: 37205323 PMC: 10187159. DOI: 10.1101/2023.04.12.536565.

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