RT Journal Article
SR Electronic
T1 CiliaCarta: an integrated and validated compendium of ciliary genes
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 123455
DO 10.1101/123455
A1 Teunis J. P. van Dam
A1 Julie Kennedy
A1 Robin van der Lee
A1 Erik de Vrieze
A1 Kirsten A. Wunderlich
A1 Suzanne Rix
A1 Gerard W. Dougherty
A1 Nils J. Lambacher
A1 Chunmei Li
A1 Victor L. Jensen
A1 Michel R. Leroux
A1 Rim Hjeij
A1 Nicola Horn
A1 Yves Texier
A1 Yasmin Wissinger
A1 Jeroen van Reeuwijk
A1 Gabrielle Wheway
A1 Barbara Knapp
A1 Jan F. Scheel
A1 Brunella Franco
A1 Dorus A. Mans
A1 Erwin van Wijk
A1 François Képès
A1 Gisela G. Slaats
A1 Grischa Toedt
A1 Hannie Kremer
A1 Heymut Omran
A1 Katarzyna Szymanska
A1 Konstantinos Koutroumpas
A1 Marius Ueffing
A1 Thanh-Minh T. Nguyen
A1 Stef J.F. Letteboer
A1 Machteld M. Oud
A1 Sylvia E. C. van Beersum
A1 Miriam Schmidts
A1 Philip L. Beales
A1 Qianhao Lu
A1 Rachel H. Giles
A1 Radek Szklarczyk
A1 Robert B. Russell
A1 Toby J. Gibson
A1 Colin A. Johnson
A1 Oliver E. Blacque
A1 Uwe Wolfrum
A1 Karsten Boldt
A1 Ronald Roepman
A1 Victor Hernandez-Hernandez
A1 Martijn A. Huynen
YR 2017
UL http://biorxiv.org/content/early/2017/04/03/123455.abstract
AB The cilium is an essential organelle at the surface of most 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 found experimental evidence of ciliary associations for 24 out of 36 analyzed candidate proteins. In addition, we show that OSCP1, which has previously been implicated in two distinct non-ciliary functions, causes a cilium dysfunction phenotype when depleted in zebrafish. The candidate list forms the basis of CiliaCarta, a comprehensive ciliary compendium covering 836 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/.