Van Dam, TJP;
Kennedy, J;
Van der Lee, R;
De Vrieze, E;
Wunderlich, KA;
Rix, S;
Dougherty, GW;
... Huynen, MA; + view all
(2019)
CiliaCarta: An integrated and validated compendium of ciliary genes.
PLOS ONE
, 14
(5)
, Article e0216705. 10.1371/journal.pone.0216705.
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Abstract
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/.
| Type: | Article |
|---|---|
| Title: | CiliaCarta: An integrated and validated compendium of ciliary genes |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1371/journal.pone.0216705 |
| Publisher version: | https://doi.org/10.1371/journal.pone.0216705 |
| Language: | English |
| Additional information: | Copyright © 2019 van Dam et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
| Keywords: | Cilia, Zebrafish, Caenorhabditis elegans, Embryos, Photoreceptors, Stable isotope labeling by amino acids in cell culture, Proteomic databases, Morpholino |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10075776 |
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