ArticleHuman molecular genetics2014
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 74 citations in OpenAlex.
- BBSome: An essential component of hypothalamic regulation of energy homeostasis.Reviews in endocrine & metabolic disorders · 2026Review
- Physiologic mechanisms underlying polycystic kidney disease.Physiological reviews · 2025Review
- The intraflagellar transport cycle.Nature reviews. Molecular cell biology · 2025Review
- The relationship between intraflagellar transport and upstream protein trafficking pathways and macrocyclic lactone resistance in Caenorhabditis elegans.G3 (Bethesda, Md.) · 2024Article
- Deciphering vesicle-assisted transport mechanisms in cytoplasm to cilium trafficking.Frontiers in cellular neuroscience · 2024Review
- The Prognostic and Therapeutic Roles of ARL-6 Gene in Hepatocellular Carcinoma.International journal of medical sciences · 2024Article
- Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond.eLife · 2023Review
- ARL3 mediates BBSome ciliary turnover by promoting its outward movement across the transition zone.The Journal of cell biology · 2022Article
- The wind of change in the management of autosomal dominant polycystic kidney disease in childhood.Pediatric nephrology (Berlin, Germany) · 2022Review
- BBSome: a New Player in Hypertension and Other Cardiovascular Risks.Hypertension (Dallas, Tex. : 1979) · 2022Review
- c-JUN n-Terminal Kinase (JNK) Signaling in Autosomal Dominant Polycystic Kidney Disease.Journal of cellular signaling · 2022Article
- Gene therapy rescues olfactory perception in a clinically relevant ciliopathy model of Bardet-Biedl syndrome.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Article
- BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.International journal of molecular sciences · 2021Article
- A genetic screen in Drosophila reveals an unexpected role for the KIP1 ubiquitination-promoting complex in male fertility.PLoS genetics · 2020Article
- Reproduction Function in Male Patients With Bardet Biedl Syndrome.The Journal of clinical endocrinology and metabolism · 2020Article
- Exploring Key Challenges of Understanding the Pathogenesis of Kidney Disease in Bardet-Biedl Syndrome.Kidney international reports · 2020Review
- Regulation of polycystin expression, maturation and trafficking.Cellular signalling · 2020Review
- Polycystins as components of large multiprotein complexes of polycystin interactors.Cellular signalling · 2020Review
- Structure of the human BBSome core complex.eLife · 2020Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Bardet-Biedl syndrome (BBS) and autosomal dominant polycystic kidney disease (ADPKD) are two genetically distinct ciliopathies but share common phenotypes such as renal cysts. Seven BBS proteins form a complex called the BBSome which is localized at the basal body or ciliary axoneme and regulates the ciliary entry or flagellar exit of several signaling molecules. Here, we demonstrate that, unlike the seven-span somatostatin receptor 3 or the leptin receptor that interacts with all subunits of the BBSome, the ADPKD protein polycystin-1 (PC1) interacts with BBS1, BBS4, BBS5 and BBS8, four of the seven components of the BBSome. Only depletion or mutation of BBS1, but not depletion of BBS5 and BBS8, or knockout of BBS4, impairs ciliary trafficking of PC1 in kidney epithelial cells. Depletion of these BBS proteins affects neither the ciliary length nor the plasma membrane targeting of PC1. Expression of a pathogenic BBS3/Arl6 mutant (T31R) that locks Arl6 in the GDP form leads to stunted cilia and inhibition of PC1 on primary cilia. We propose that the 11-span membrane protein PC1 is a BBSome cargo and that the components of the BBSome may possess subunit-specific functions. Moreover, physical interactions between the BBS and ADPKD proteins may underline the overlapping renal phenotypes in these two diseases.
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