ArticleNature cell biology2015
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
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Article in Nature cell biology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 164 papers, 1 of them a synthesis that pooled it.
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164citing papers in PubMed, 1 pooled it
18.8field-weighted citation impact, top 1% of its field
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Who cites it
164 citing papers in PubMed, 1 synthesis or guideline pooled it, 245 citations in OpenAlex.
- Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis.American journal of human genetics · 2021Pooled it
- Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172.Clinical genetics · 2026Review
- Review
- Pathophysiological significance of cholesterol in ciliopathies.Fujita medical journal · 2026Article
- RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa.European journal of human genetics : EJHG · 2026Article
- PRPF8 Mutation-Induced Defects in Human iPSC-Derived RPE Are Rescued by Adenine Base Editing.Investigative ophthalmology & visual science · 2026Article
- PIBF1 (p.R405Q) germline variant identified in cancer susceptibility family impairs protein stability and function.Cancer cell international · 2025Article
- A CRISPR activation screen reveals a cilia disassembly pathway mutated in focal cortical dysplasia.Science advances · 2025Article
- Strategies for multimodal spatiotemporal profiling of phosphorylation in cilia biology.Journal of cell science · 2025Review
- Integrating AUROC and SSMD for quality control in high-throughput screening assays.SLAS discovery : advancing life sciences R & D · 2025Article
- Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33.Molecular syndromology · 2025Article
- Functional variants of CFAP410 affect the DNA damage response leading to motor neuron degeneration - Implications for ALS.iScience · 2025Article
- Did axons evolve by activating cytokinesis during interphase? A hypothesis on the origin of neurons.Molecular biology of the cell · 2025Review
- The RNA splicing factor PRPF8 is required for left-right organiser cilia differentiation and determination of cardiac left-right asymmetry via regulation ofbioRxiv : the preprint server for biology · 2025Article
- A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.Neurogenetics · 2025Article
- Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis.Molecular neurodegeneration · 2025Article
- Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies.Communications medicine · 2025Article
- Variants in CFAP410 cause a range of retinal and skeletal phenotypes.NPJ genomic medicine · 2025Article
- Review
- C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis.Brain : a journal of neurology · 2025Article
104 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
78 authors at 19 institutions in 7 countries.
Gabrielle Wheway *Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.
Miriam Schmidts *Genetics and Genomic Medicine and Birth Defects Research Centre, Institute of Child Health, University College London, London, WC1N 1EH, UK.
Dorus A Mans *Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.
Katarzyna Szymanska *Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.
Thanh-Minh T Nguyen *Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.
Hilary RacherDepartment of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada.
Ian G PhelpsDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Grischa ToedtStructural and Computational Biology, European Molecular Biology Laboratory, 69117 Heidelberg, Germany.
Julie KennedySchool of Biomolecular and Biomedical Science, University College Dublin, Dublin 4, Ireland.
Kirsten A WunderlichDepartment of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany.
Nasrin SoruschDepartment of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany.
Zakia A AbdelhamedSection of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.
Subaashini NatarajanSection of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.
Warren HerridgeSection of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.
Jeroen van ReeuwijkDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.
Nicola HornDivision of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, 72074 Tübingen, Germany.
Karsten BoldtDivision of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, 72074 Tübingen, Germany.
David A ParrySection of Genetics, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.
Stef J F LetteboerDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.
Susanne RoosingLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, 1230 York Ave, Box 268, New York, NY 10065, USA.
Matthew AdamsBioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK.
Sandra M BellBioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK.
Jacquelyn BondBioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK.
Julie HigginsBioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK.
Ewan E MorrisonBioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK.
Darren C TomlinsonBioScreening Technology Group, Biomedical Health Research Centre, St. James's University Hospital, Leeds, LS9 7TF, UK.
Gisela G SlaatsDepartment of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, 3584 CX, The Netherlands.
Teunis J P van DamCentre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.
Lijia HuangChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada.
Kristin KesslerInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Andreas GiesslAnimal Physiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Clare V LoganSection of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.
Evan A BoyleDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Jay ShendureDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Shamsa AnaziDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Mohammed AldahmeshDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Selwa Al HazzaaDepartment of Ophthalmology, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Robert A HegeleRobarts Research Institute, University of Western Ontario, London, N6G 2V4, ON, Canada.
Carole OberDepartment of Human Genetics, University of Chicago, Chicago, IL 60637, USA.
Patrick FroskDepartment of Pediatrics and Child Health & Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, R3E 3P5, MB, Canada.
Aizeddin A MhanniDepartment of Pediatrics and Child Health & Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, R3E 3P5, MB, Canada.
Bernard N ChodirkerDepartment of Pediatrics and Child Health & Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, R3E 3P5, MB, Canada.
Albert E ChudleyDepartment of Pediatrics and Child Health & Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, R3E 3P5, MB, Canada.
Ryan LamontDepartment of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada.
Francois P BernierDepartment of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada.
Chandree L BeaulieuChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada.
Paul GordonDepartment of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada.
Richard T PonDepartment of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada.
Clem DonahueDepartment of Pediatrics, University of California San Francisco, San Francisco, CA 92093, USA.
A James BarkovichDepartment of Radiology, University of California San Francisco, San Francisco, CA 92093, USA.
Louis WolfDepartment of Pathology, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.
Carmel ToomesSection of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.
Christian T ThielInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, ON, Canada.
Martin McKibbinDepartment of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St. James's University Hospital, Leeds, LS9 7TF, UK.
Chris F InglehearnSection of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.
UK10K Consortium
University of Washington Center for Mendelian Genomics
Fiona StewartDepartment of Medical Genetics, Belfast City Hospital and Queens University, Belfast, BT12 6BA, UK.
Heymut OmranDepartment of Pediatrics and Adolescent Medicine, University Hospital Muenster, 48149 Muenster, Germany.
Martijn A HuynenCentre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.
Panagiotis I SergouniotisMoorfields Eye Hospital NHS Foundation Trust and NIHR Ophthalmology Biomedical Research Centre, London, EC1V 2PD, UK.
Fowzan S AlkurayaDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Jillian S ParboosinghDepartment of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada.
A Micheil InnesDepartment of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8, AB, Canada.
Colin E WilloughbyDepartment of Eye and Vision Science, Institute of Ageing and Chronic Disease, Faculty of Health & Life Sciences, University of Liverpool, Liverpool, L69 3BX, UK.
Rachel H GilesDepartment of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, 3584 CX, The Netherlands.
Andrew R WebsterMoorfields Eye Hospital NHS Foundation Trust and NIHR Ophthalmology Biomedical Research Centre, London, EC1V 2PD, UK.
Marius UeffingDivision of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, 72074 Tübingen, Germany.
Oliver BlacqueSchool of Biomolecular and Biomedical Science, University College Dublin, Dublin 4, Ireland.
Joseph G GleesonLaboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, 1230 York Ave, Box 268, New York, NY 10065, USA.
Uwe WolfrumDepartment of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany.
Philip L BealesGenetics and Genomic Medicine and Birth Defects Research Centre, Institute of Child Health, University College London, London, WC1N 1EH, UK.
Toby GibsonStructural and Computational Biology, European Molecular Biology Laboratory, 69117 Heidelberg, Germany.
Dan DohertyDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Hannah M MitchisonGenetics and Genomic Medicine and Birth Defects Research Centre, Institute of Child Health, University College London, London, WC1N 1EH, UK.
Ronald RoepmanDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.
Colin A JohnsonSection of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.
University of Leeds · GBKing Faisal Specialist Hospital & Research Centre · SAUniversity of Washington · USFriedrich-Alexander-Universität Erlangen-Nürnberg · DEJohannes Gutenberg University Mainz · DERadboud University Nijmegen · NLChildren's Hospital of Eastern Ontario · CAEuropean Molecular Biology Laboratory · DERadboud Institute for Molecular Life Sciences · NLUniversity College Dublin · IEUniversity College London · GBUniversity Medical Center · USUniversity Medical Center Utrecht · NLUniversity of Tübingen · DEHelmholtz Zentrum München · DERadboud University Medical Center · NLUniversity Hospital Münster · DEUniversity of Chicago · USUniversity of Ottawa · CA
Funding
Restoring FMRP Phenotypes Frpm Temporal Regional and Splice- Isoforms VarationsP30HD002274 · NICHD · UNIVERSITY OF WASHINGTON · PI GURALNICK, MICHAEL J · 1985 to 2013
$33.6MUW Center for Mendelian GenomicsU54HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, NICKERSON, DEBORAH A · 2012 to 2015
$20.0MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MIntellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI GARDEN, GWENN A · 2014 to 2019
$7.9MSex-Specific Genetic Architecture of Asthma-Associated Quantitative TraitsR01HL085197 · NHLBI · UNIVERSITY OF CHICAGO · PI OBER, CAROLE · 2007 to 2015
$7.6MMolecular Characterization of Joubert SyndromeR01NS048453 · NINDS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GLEESON, JOSEPH G · 2004 to 2020
$6.0MJoubert syndrome and related disorders of hindbrain developmentR01NS064077 · NINDS · UNIVERSITY OF WASHINGTON · PI DOHERTY, DANIEL · 2010 to 2014
$1.8MUltrasensitive identification and precise quantitation of low frequency somatic mR21CA160080 · NCI · UNIVERSITY OF WASHINGTON · PI SHENDURE, JAY ASHOK · 2011 to 2013
$588kCIHRHoward Hughes Medical InstituteMedical Research Council G0700073Medical Research Council G0801843Medical Research Council MR/K011154/1Medical Research Council MR/M000532/1NCI NIH HHS R21 CA160080NCI NIH HHS R21CA160080NHGRI NIH HHS U54 HG006493NHGRI NIH HHS U54HG006493NHGRI NIH HHS UM1 HG006493NHLBI NIH HHS R01 HL085197NICHD NIH HHS P30 HD002274NICHD NIH HHS P30HD002274NICHD NIH HHS U54 HD083091NINDS NIH HHS R01 NS048453NINDS NIH HHS R01 NS064077NINDS NIH HHS R01NS064077Wellcome Trust 100140Wellcome Trust WT091310
Abstract
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a global resource. We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa. The PRPFs localize to the connecting cilium, and PRPF8- and PRPF31-mutated cells have ciliary defects. Combining the screen with exome sequencing data identified recessive mutations in PIBF1, also known as CEP90, and C21orf2, also known as LRRC76, as causes of the ciliopathies Joubert and Jeune syndromes. Biochemical approaches place C21orf2 within key ciliopathy-associated protein modules, offering an explanation for the skeletal and retinal involvement observed in individuals with C21orf2 variants. Our global, unbiased approaches provide insights into ciliogenesis complexity and identify roles for unanticipated pathways in human genetic disease.
Indexed as
Genetic MarkersPhotoreceptor CellsRNA InterferenceAbnormalities, MultipleAnimalsCaenorhabditis elegansCerebellar DiseasesCerebellumCiliaCiliary Motility DisordersCytoskeletal ProteinsDatabases, GeneticEllis-Van Creveld SyndromeEye AbnormalitiesGenetic Predisposition to DiseaseGenetic TestingCFAP410 protein, humanCytoskeletal ProteinsGenetic MarkersMembrane ProteinsPIBF1 protein, humanPibf1 protein, mousePregnancy ProteinsProteinsSuppressor Factors, ImmunologicTMEM67 protein, mouse
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