ArticlePLoS genetics2017
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 32 citations in OpenAlex.
- Homology search confirms widespread presence of BBSome proteins in Hexapoda with implications for potential non-ciliary BBS protein functions in honey bees.Scientific reports · 2025Article
- BBS8-dependent ciliary Hedgehog signaling governs cell fate in the white adipose tissue.The EMBO journal · 2025Article
- Exploring Ciliary Mechanisms in the Causation of Hydrocephalus in Humans-Similarities and Differences from Animal Models.Journal of molecular neuroscience : MN · 2025Review
- Pax1a-EphrinB2a pathway in the first pharyngeal pouch controls hyomandibular plate formation by promoting chondrocyte formation in zebrafish.Frontiers in cell and developmental biology · 2025Article
- The BBS/CCT chaperonin complex ensures the localization of the adhesion G protein-coupled receptor ADGRV1 to the base of primary cilia.Frontiers in cell and developmental biology · 2025Article
- Evolutionary trajectory for nuclear functions of ciliary transport complex proteins.Microbiology and molecular biology reviews : MMBR · 2024Review
- Zebrafish smarcc1a mutants reveal requirements for BAF chromatin remodeling complexes in distinguishing the atrioventricular canal from the cardiac chambers.Developmental dynamics : an official publication of the American Association of Anatomists · 2024Article
- Deletion of IFT20 exclusively in the RPE ablates primary cilia and leads to retinal degeneration.PLoS biology · 2023Article
- Repurposing Normal Chromosomal Microarray Data to Harbor Genetic Insights into Congenital Heart Disease.Biology · 2023Article
- The actin-bundling protein Fascin-1 modulates ciliary signalling.Journal of molecular cell biology · 2023Article
- The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvement.Brain communications · 2023Article
- A change of heart: new roles for cilia in cardiac development and disease.Nature reviews. Cardiology · 2022Review
- Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- BBSome: a New Player in Hypertension and Other Cardiovascular Risks.Hypertension (Dallas, Tex. : 1979) · 2022Review
- An updated SYSCILIA gold standard (SCGSv2) of known ciliary genes, revealing the vast progress that has been made in the cilia research field.Molecular biology of the cell · 2021Review
- Genetic Adaptations of an Island Pit-Viper to a Unique Sedentary Life with Extreme Seasonal Food Availability.G3 (Bethesda, Md.) · 2020Article
- Ciliary Genes in Renal Cystic Diseases.Cells · 2020Review
- Cardiovascular Regulation by the Neuronal BBSome.Hypertension (Dallas, Tex. : 1979) · 2020Article
- Epigenetics in Cardiac Hypertrophy and Heart Failure.JACC. Basic to translational science · 2019Review
- Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model.Scientific reports · 2019Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well as McKusick-Kaufman syndrome, a genetic disorder characterized by congenital heart defects. Congenital heart defects are rare in BBS, and McKusick-Kaufman syndrome patients do not develop retinitis pigmentosa. Therefore, the McKusick-Kaufman syndrome allele may highlight cellular functions of BBS6 distinct from the presently understood functions in the cilia. In support, we find that the McKusick-Kaufman syndrome disease-associated allele, BBS6H84Y; A242S, maintains cilia function. We demonstrate that BBS6 is actively transported between the cytoplasm and nucleus, and that BBS6H84Y; A242S, is defective in this transport. We developed a transgenic zebrafish with inducible bbs6 to identify novel binding partners of BBS6, and we find interaction with the SWI/SNF chromatin remodeling protein Smarcc1a (SMARCC1 in humans). We demonstrate that through this interaction, BBS6 modulates the sub-cellular localization of SMARCC1 and find, by transcriptional profiling, similar transcriptional changes following smarcc1a and bbs6 manipulation. Our work identifies a new function for BBS6 in nuclear-cytoplasmic transport, and provides insight into the disease mechanism underlying the congenital heart defects in McKusick-Kaufman syndrome patients.
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