ZFIN ID: ZDB-PUB-190517-5
CiliaCarta: An integrated and validated compendium of ciliary genes
van Dam, T.J.P., Kennedy, J., van der Lee, R., de Vrieze, E., Wunderlich, K.A., Rix, S., Dougherty, G.W., Lambacher, N.J., Li, C., Jensen, V.L., Leroux, M.R., Hjeij, R., Horn, N., Texier, Y., Wissinger, Y., van Reeuwijk, J., Wheway, G., Knapp, B., Scheel, J.F., Franco, B., Mans, D.A., van Wijk, E., Képès, F., Slaats, G.G., Toedt, G., Kremer, H., Omran, H., Szymanska, K., Koutroumpas, K., Ueffing, M., Nguyen, T.T., Letteboer, S.J.F., Oud, M.M., van Beersum, S.E.C., Schmidts, M., Beales, P.L., Lu, Q., Giles, R.H., Szklarczyk, R., Russell, R.B., Gibson, T.J., Johnson, C.A., Blacque, O.E., Wolfrum, U., Boldt, K., Roepman, R., Hernandez-Hernandez, V., Huynen, M.A.
Date: 2019
Source: PLoS One   14: e0216705 (Journal)
Registered Authors: de Vrieze, Erik, Kremer, Hannie, LeRoux, Michael, van Wijk, Erwin
Keywords: none
MeSH Terms:
  • Animals
  • Bayes Theorem
  • Caenorhabditis elegans/cytology
  • Caenorhabditis elegans/genetics
  • Cilia/genetics*
  • Genomics*
  • Molecular Sequence Annotation
  • Phenotype
  • Reproducibility of Results
  • Sensory Receptor Cells/metabolism
  • Zebrafish/genetics
PubMed: 31095607 Full text @ PLoS One
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/.