UMMS Affiliation

Department of Ophthalmology and Visual Sciences

Publication Date

2021-03-15

Document Type

Article

Disciplines

Amino Acids, Peptides, and Proteins | Cell and Developmental Biology | Cellular and Molecular Physiology | Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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 RPGRIP1L as it rescues ciliary gating in the absence of Rpgrip1l.

Keywords

ciliopathies, cilia, Rpgrip1l

Rights and Permissions

Copyright © 2021 Wiegering et al. This article is distributed by The American Society for Cell Biology under license from the author(s). Two months after publication it is available to the public under an Attribution–Noncommercial–Share Alike 3.0 Unported Creative Commons License.

DOI of Published Version

10.1091/mbc.E20-03-0190

Source

Wiegering A, Dildrop R, Vesque C, Khanna H, Schneider-Maunoury S, Gerhardt C. Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone. Mol Biol Cell. 2021 Apr 15;32(8):675-689. doi: 10.1091/mbc.E20-03-0190. Epub 2021 Feb 24. PMID: 33625872; PMCID: PMC8108517. Link to article on publisher's site

Journal/Book/Conference Title

Molecular biology of the cell

Related Resources

Link to Article in PubMed

PubMed ID

33625872

Creative Commons License

Creative Commons Attribution-Noncommercial-Share Alike 3.0 License
This work is licensed under a Creative Commons Attribution-Noncommercial-Share Alike 3.0 License.

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