CiliaCarta: An integrated and validated compendium of ciliary genes
Publication year
2019Author(s)
Source
PLoS One, 14, 5, (2019), article e0216705ISSN
Publication type
Article / Letter to editor
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Organization
CMBI
Human Genetics
Otorhinolaryngology
Journal title
PLoS One
Volume
vol. 14
Issue
iss. 5
Subject
Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience; Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life SciencesAbstract
The cilium is an essential organelle at the surface of mammalian cells whose dysfunction causes a wide range of genetic diseases collectively called ciliopathies. The current rate at which new ciliopathy genes are identified suggests that many ciliary components remain undiscovered. We generated and rigorously analyzed genomic, proteomic, transcriptomic and evolutionary data and systematically integrated these using Bayesian statistics into a predictive score for ciliary function. This resulted in 285 candidate ciliary genes. We generated independent experimental evidence of ciliary associations for 24 out of 36 analyzed candidate proteins using multiple cell and animal model systems (mouse, zebrafish and nematode) and techniques. For example, we show that OSCP1, which has previously been implicated in two distinct non-ciliary processes, causes ciliogenic and ciliopathy-associated tissue phenotypes when depleted in zebrafish. The candidate list forms the basis of CiliaCarta, a comprehensive ciliary compendium covering 956 genes. The resource can be used to objectively prioritize candidate genes in whole exome or genome sequencing of ciliopathy patients and can be accessed at http://bioinformatics.bio.uu.nl/john/syscilia/ciliacarta/.
This item appears in the following Collection(s)
- Academic publications [238441]
- Electronic publications [122525]
- Faculty of Medical Sciences [90373]
- Open Access publications [97520]
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