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The primary cilium is a highly conserved microtubule-based organelle present in most vertebrate cell types. Mutations in ciliary protein genes can lead to dysfunctional or absent cilia and are the cause of a large group of heterogeneous diseases known as ciliopathies. ARL13B is a member of the ARF family of regulatory GTPases and is highly enriched on the ciliary membrane. The absence of ARL13B disrupts cilia architecture and mutations have been linked to several diseases; yet there remain major gaps in our understanding of the role that ARL13B plays in primary cilia function. Here, we demonstrate how in cellulo proximity-dependent biotinylation (BioID) can be used to generate a comprehensive protein proximity map of ciliary proteins by performing BioID on N- and C-terminally BirA*-tagged ARL13B. This method can theoretically provide insight into any cilia protein, identifying key interactors that play a critical role in ciliary biology.
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http://dx.doi.org/10.1007/978-1-0716-3507-0_11 | DOI Listing |
Exp Eye Res
September 2025
Department of Ophthalmology, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Henan Eye Hospital, Zhengzhou, Henan, China; Henan Key Laboratory of Ophthalmology and Visual Science, Henan Eye Hospital, Henan Provincial People's Hospital, Zhengzhou, Henan, China; Eye institu
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by genetic heterogeneity. Despite significant progress in understanding the BBSome-coding genes associated with ciliopathies, the pathogenesis linked to mutations in chaperonin-coding genes (BBS6, BBS10, and BBS12) remains poorly defined. This study aims to confirm the genetic diagnosis of BBS and elucidate the pathological mechanisms in causative genes of BBS10 and BBS12.
View Article and Find Full Text PDFCytoskeleton (Hoboken)
September 2025
College of Life Sciences, Shandong Normal University, Jinan, China.
Cilia, evolutionarily conserved organelles on eukaryotic cell surfaces, depend on the intraflagellar transport (IFT) system for their assembly, maintenance, and signaling. The IFT system orchestrates bidirectional trafficking of structural components and signaling molecules through coordinated actions of protein complexes and molecular motors. IFT complexes assemble into anterograde trains at the ciliary base and undergo structural remodeling at the ciliary tip to form retrograde trains, with bidirectional motility regulated by modifications on the trains per se and the microtubule tracks.
View Article and Find Full Text PDFAsian J Androl
September 2025
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei 230032, China.
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by impaired motility of cilia and flagella. Mutations in cilia- and flagella-associated protein 300 (CFAP300) are associated with human PCD and male infertility; however, the underlying pathogenic mechanisms remain poorly understood. In a consanguineous Chinese family, we identified a homozygous CFAP300 loss-of-function variant (c.
View Article and Find Full Text PDFOrphanet J Rare Dis
September 2025
Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU- CUHK), Key Laboratory of Obstetric, Gynecologic, and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, China.
Unlabelled: Primary ciliary dyskinesia (PCD; MIM 244400) is a genetic disorder, and its morbidity has been previously underestimated. Mutations in ciliary proteins underlie the disease, resulting in ciliary dysfunction. DNAH10 is an inner arm dynein heavy chain that has been shown to play a critical role in the movement of sperm flagella.
View Article and Find Full Text PDFJ Med Case Rep
September 2025
GIMUNICAH, Faculty of Medicine, Catholic University of Honduras, San Pedro Sula, Honduras.
Background: Joubert syndrome is a genetically heterogeneous ciliopathy characterized by cerebellar vermis hypoplasia and the distinctive molar tooth sign on neuroimaging, often accompanied by neurological impairment. Pathogenic CSPP1 variants account for approximately 3% of Joubert syndrome cases. While certain ciliopathies have been associated with metabolic dysfunction, this has not been described in CSPP1-related Joubert syndrome.
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