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
PubMed ID
33625872
Repository Citation
Wiegering A, Dildrop R, Vesque C, Khanna H, Schneider-Maunoury S, Gerhardt C. (2021). Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone. Open Access Publications by UMMS Authors. https://doi.org/10.1091/mbc.E20-03-0190. Retrieved from https://escholarship.umassmed.edu/oapubs/4697
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-Share Alike 3.0 License.
Included in
Amino Acids, Peptides, and Proteins Commons, Cell and Developmental Biology Commons, Cellular and Molecular Physiology Commons, Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons