ArticleHuman genetics2013
Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome.
Article in Human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 37 citations in OpenAlex.
- CCDC28A deficiency causes head-tail coupling defects and immotility in murine spermatozoa.Scientific reports · 2024Article
- A novel coiled-coil domain containing-related gene signature for predicting prognosis and treatment effect of breast cancer.Journal of cancer research and clinical oncology · 2023Article
- Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes.PLoS genetics · 2022Article
- A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly.Cell death and differentiation · 2022Article
- Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts.Frontiers in genetics · 2022Review
- Article
- Dynamic Changes of Brain Cilia Transcriptomes across the Human Lifespan.International journal of molecular sciences · 2021Article
- Multi-omic analysis elucidates the genetic basis of hydrocephalus.Cell reports · 2021Article
- Review
- F-Actin Dynamics in the Regulation of Endosomal Recycling and Immune Synapse Assembly.Frontiers in cell and developmental biology · 2021Review
- Ciliary Genes in Renal Cystic Diseases.Cells · 2020Review
- Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project.Frontiers in genetics · 2019Review
- Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B.Scientific reports · 2018Article
- A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.Scientific reports · 2018Article
- Signaling through the Primary Cilium.Frontiers in cell and developmental biology · 2018Review
- BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1.Scientific reports · 2017Article
- Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management.Indian journal of ophthalmology · 2016Review
- Reduced expression of SET7/9, a histone mono-methyltransferase, is associated with gastric cancer progression.Oncotarget · 2016Article
- Evaluation of zebrafish kidney function using a fluorescent clearance assay.Journal of visualized experiments : JoVE · 2015Article
- Article
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Authors and funding
7 authors at 3 institutions in 4 countries.
Funding
Abstract
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder that is generally inherited in an autosomal recessive fashion. However, in some families, trans mutant alleles interact with the primary causal locus to modulate the penetrance and/or the expressivity of the phenotype. CCDC28B (MGC1203) was identified as a second site modifier of BBS encoding a protein of unknown function. Here we report the first functional characterization of this protein and show it affects ciliogenesis both in cultured cells and in vivo in zebrafish. Consistent with this biological role, our in silico analysis shows that the presence of CCDC28B homologous sequences is restricted to ciliated metazoa. Depletion of Ccdc28b in zebrafish results in defective ciliogenesis and consequently causes a number of phenotypes that are characteristic of BBS and other ciliopathy mutants including hydrocephalus, left-right axis determination defects and renal function impairment. Thus, this work reports CCDC28B as a novel protein involved in the process of ciliogenesis whilst providing functional insight into the cellular basis of its modifier effect in BBS patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.