Journal
PLOS ONE
Volume 14, Issue 5, Pages -Publisher
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0216705
Keywords
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Categories
Funding
- European Community [241955, 278568, 602273]
- Virgo consortium - Dutch government [FES0908]
- Netherlands Genomics Initiative [050-060-452]
- Canadian Institutes of Health Research [MOP-142243, MOP-82870, PJT-156042]
- Michael Smith Foundation for Health Research
- Foundation Fighting Blindness [PPA-0717-0719-RAD]
- Dutch Kidney Foundation KOUNCIL consortium
- Deutsche Forschungsgemeinschaft [CRC1140, SFB-1411 KIDGEM]
- Metakids Foundation
- National Institute for Health Research
- Radboudumc Hypatia Tenure Track Fellowship, Radboud Universiteit excellence fellowship
- ERC starting grant TREATCilia [716344]
- Netherlands Organization for Scientific Research [Vici-865.12.005]
- BBSRC [BB/P007791/1] Funding Source: UKRI
- MRC [MR/M000532/1] Funding Source: UKRI
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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/.
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