CiliaCarta: an integrated and validated compendium of ciliary genes

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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/

Standort
Deutsche Nationalbibliothek Frankfurt am Main
Umfang
Online-Ressource
Sprache
Englisch
Anmerkungen
issn: 1932-6203

Klassifikation
Biowissenschaften, Biologie

Ereignis
Veröffentlichung
(wo)
Freiburg
(wer)
Universität
(wann)
2019
Urheber
Dam, Teunis J. P. van
Kennedy, Julie
Lee, Robin van der
Vrieze, Erik de
Wunderlich, Kirsten A.
Rix, Suzanne
Dougherty, Gerard W.
Lambacher, Nils J.
Li, Chunmei
Jensen, Victor L.
Leroux, Michel R.
Hjeij, Rim
Horn, Nicola
Texier, Yves Stephan
Wissinger, Yasmin
Reeuwijk, Jeroen van
Wheway, Gabrielle
Knapp, Barbara
Scheel, Jan Frederik
Franco, Brunella
Mans, Dorus A.
Wijk, Erwin van
Képès, François
Slaats, Gisela G.
Tödt, Grischa
Kremer, Hannie
Omran, Heymut
Szymanska, Katarzyna
Koutroumpas, Konstantinos
Ueffing, Marius
Nguyen, Thanh-Minh T.
Letteboer, Stef J. F.
Oud, Machteld M.
Beersum, Sylvia E. C. van
Schmidts, Miriam
Beales, Philip L.
Lu, Qianhao
Giles, Rachel H.
Szklarczyk, Radek
Russell, Robert B.
Gibson, Toby J.
Johnson, Colin A.
Blacque, Oliver E.
Wolfrum, Uwe
Boldt, Karsten
Roepman, Ronald
Hernandez-Hernandez, Victor
Huynen, Martijn A.

DOI
10.1371/journal.pone.0216705
URN
urn:nbn:de:bsz:25-freidok-1498882
Rechteinformation
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Letzte Aktualisierung
15.08.2025, 07:29 MESZ

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Beteiligte

Entstanden

  • 2019

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