An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-07-13

AUTHORS

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans, Katarzyna Szymanska, Thanh-Minh T. Nguyen, Hilary Racher, Ian G. Phelps, Grischa Toedt, Julie Kennedy, Kirsten A. Wunderlich, Nasrin Sorusch, Zakia A. Abdelhamed, Subaashini Natarajan, Warren Herridge, Jeroen van Reeuwijk, Nicola Horn, Karsten Boldt, David A. Parry, Stef J. F. Letteboer, Susanne Roosing, Matthew Adams, Sandra M. Bell, Jacquelyn Bond, Julie Higgins, Ewan E. Morrison, Darren C. Tomlinson, Gisela G. Slaats, Teunis J. P. van Dam, Lijia Huang, Kristin Kessler, Andreas Giessl, Clare V. Logan, Evan A. Boyle, Jay Shendure, Shamsa Anazi, Mohammed Aldahmesh, Selwa Al Hazzaa, Robert A. Hegele, Carole Ober, Patrick Frosk, Aizeddin A. Mhanni, Bernard N. Chodirker, Albert E. Chudley, Ryan Lamont, Francois P. Bernier, Chandree L. Beaulieu, Paul Gordon, Richard T. Pon, Clem Donahue, A. James Barkovich, Louis Wolf, Carmel Toomes, Christian T. Thiel, Kym M. Boycott, Martin McKibbin, Chris F. Inglehearn, Fiona Stewart, Heymut Omran, Martijn A. Huynen, Panagiotis I. Sergouniotis, Fowzan S. Alkuraya, Jillian S. Parboosingh, A. Micheil Innes, Colin E. Willoughby, Rachel H. Giles, Andrew R. Webster, Marius Ueffing, Oliver Blacque, Joseph G. Gleeson, Uwe Wolfrum, Philip L. Beales, Toby Gibson, Dan Doherty, Hannah M. Mitchison, Ronald Roepman, Colin A. Johnson

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. More... »

PAGES

1074-1087

Journal

TITLE

Nature Cell Biology

ISSUE

8

VOLUME

17

Author Affiliations

  • Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK
  • Pediatric Genetics Section, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg 79112, Germany
  • Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands
  • Department of Medical Genetics and Alberta Children’s Hospital Research Institute for Child and Maternal Health, Calgary, T3B 6A8 Alberta, Canada
  • Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA
  • Structural and Computational Biology, European Molecular Biology Laboratory, 69117 Heidelberg, Germany
  • School of Biomolecular and Biomedical Science, University College Dublin, Dublin 4, Ireland
  • Department of Cell and Matrix Biology, Institute of Zoology, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany
  • Division of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, 72074 Tübingen, Germany
  • Section of Genetics, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK
  • Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, 1230 York Avenue, Box 268, New York, New York 10065, USA
  • BioScreening Technology Group, Biomedical Health Research Centre, St James’s University Hospital, Leeds LS9 7TF, UK
  • Department of Nephrology and Hypertension, University Medical Centre Utrecht, Utrecht, 3584 CX, The Netherlands
  • Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands
  • Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1 Ontario, Canada
  • Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany
  • Animal Physiology, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany
  • Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
  • Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia
  • Department of Ophthalmology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia
  • Robarts Research Institute, University of Western Ontario, London, N6G 2V4 Ontario, Canada
  • Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA
  • Department of Pediatrics and Child Health & Department of Biochemistry and Medical Genetics, Faculty of Medicine, University of Manitoba, Winnipeg, R3E 3P5 Manitoba, Canada
  • Department of Pediatrics, University of California San Francisco, San Francisco, California 92093, USA
  • Department of Radiology, University of California San Francisco, San Francisco, California 92093, USA
  • Department of Pathology, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands
  • Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St James’s University Hospital, Leeds LS9 7TF, UK
  • Department of Medical Genetics, Belfast City Hospital and Queens University, Belfast BT12 6BA, UK
  • Department of Pediatrics and Adolescent Medicine, University Hospital Muenster, 48149 Muenster, Germany
  • UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK
  • Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia
  • Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, Faculty of Health & Life Sciences, University of Liverpool, Liverpool L69 3BX, UK
  • Research Unit of Protein Science, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt, 85764 Neuherberg, Germany
  • Genetics and Genomic Medicine and Birth Defects Research Centre, Institute of Child Health, University College London, London WC1N 1EH, UK
  • Divisions of Developmental Medicine and Genetic Medicine, Seattle Children’s Research Institute, University of Washington, Seattle, Washington 98105, USA
  • Related Patents

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ncb3201

    DOI

    http://dx.doi.org/10.1038/ncb3201

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1019262476

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/26167768


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