ArticleNature communications2016
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
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Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 161 papers.
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161citing papers in PubMed
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Who cites it
161 citing papers in PubMed, 255 citations in OpenAlex.
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- Network-based framework for studying etiology and phenotypic diversity in primary ciliopathies.Genome biology · 2026Article
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- CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.Science advances · 2025Article
- Strategies for multimodal spatiotemporal profiling of phosphorylation in cilia biology.Journal of cell science · 2025Review
- Advances in ciliary proteomics - towards cracking the hidden proteome code of cilia.Journal of cell science · 2025Review
- Tackling ciliary specialization to understand phenotypic variability in human primary ciliopathies.Journal of cell science · 2025Review
- Human disease variants of KATNIP fail to support CILK1 activation and control of primary cilia.Journal of cell science · 2025Article
101 more citing papers are in PubMed but not listed here.
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Authors and funding
56 authors at 20 institutions in 8 countries.
Karsten BoldtMedical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, 72074 Tuebingen, Germany.
Jeroen van ReeuwijkDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0002-0658-4399
Qianhao LuBiochemie Zentrum Heidelberg (BZH), University of Heidelberg, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany.
Konstantinos KoutroumpasInstitute of Systems and Synthetic Biology, Genopole, CNRS, Université d'Evry, 91030 Evry, France.
Thanh-Minh T NguyenDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Yves TexierMedical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, 72074 Tuebingen, Germany.
Sylvia E C van BeersumDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Nicola HornMedical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, 72074 Tuebingen, Germany.
Jason R WillerCenter for Human Disease Modeling, Duke University, Durham, North Carolina 27701, USA.
Dorus A MansDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Gerard DoughertyDepartment of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
Ideke J C LamersDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Karlien L M CoeneDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Heleen H ArtsDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Matthew J BettsBiochemie Zentrum Heidelberg (BZH), University of Heidelberg, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany.
Tina BeyerMedical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, 72074 Tuebingen, Germany.
Emine BolatDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Christian Johannes GloecknerGerman Center for Neurodegenerative Diseases (DZNE) within the Helmholz Association, Otfried-Müller Strasse 23, 72076 Tuebingen, Germany.
Khatera HaidariDepartment of Nephrology and Hypertension, Regenerative Medicine Center, University Medical Center Utrecht, 3584 CT Utrecht, The Netherlands.
Lisette HetterschijtDepartment of Otorhinolaryngology and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Daniela IaconisTelethon Institute of Genetics and Medicine, TIGEM 80078, Italy.
Dagan JenkinsMolecular Medicine Unit and Birth Defects Research Centre, UCL Institute of Child Health, London, WC1N 1EH, UK.
Franziska KloseMedical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, 72074 Tuebingen, Germany.
Barbara KnappCell and Matrix Biology, Inst. of Zoology, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany.
Brooke LatourDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Stef J F LetteboerDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Carlo L MarcelisDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Dragana MiticCambridge Cell Networks Ltd, St John's Innovation Centre, Cowley Road, Cambridge, CB4 0WS, UK.
Manuela MorleoTelethon Institute of Genetics and Medicine, TIGEM 80078, Italy.
Machteld M OudDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Moniek RiemersmaDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Susan RixMolecular Medicine Unit and Birth Defects Research Centre, UCL Institute of Child Health, London, WC1N 1EH, UK.
Paulien A TerhalDepartment of Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
Grischa ToedtStructural and Computational Biology Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany.
Teunis J P van DamCentre for Molecular and Biomolecular Informatics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 26-28, 6525 GA Nijmegen, The Netherlands.
Erik de VriezeDepartment of Otorhinolaryngology and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Yasmin WissingerMedical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, 72074 Tuebingen, Germany.
Ka Man WuDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Gordana ApicCambridge Cell Networks Ltd, St John's Innovation Centre, Cowley Road, Cambridge, CB4 0WS, UK.
Philip L BealesMolecular Medicine Unit and Birth Defects Research Centre, UCL Institute of Child Health, London, WC1N 1EH, UK.
Oliver E BlacqueSchool of Biomolecular &Biomed Science, Conway Institute, University College Dublin, Dublin 4, Ireland.
Toby J GibsonStructural and Computational Biology Unit, European Molecular Biology Laboratory, Meyerhofstrasse 1, 69117 Heidelberg, Germany.
Martijn A HuynenCentre for Molecular and Biomolecular Informatics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 26-28, 6525 GA Nijmegen, The Netherlands.
Nicholas KatsanisCenter for Human Disease Modeling, Duke University, Durham, North Carolina 27701, USA.
Hannie KremerDepartment of Otorhinolaryngology and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Heymut OmranDepartment of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
Erwin van WijkDepartment of Otorhinolaryngology and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
Uwe WolfrumCell and Matrix Biology, Inst. of Zoology, Johannes Gutenberg University of Mainz, 55122 Mainz, Germany.
François KepesInstitute of Systems and Synthetic Biology, Genopole, CNRS, Université d'Evry, 91030 Evry, France.
Erica E DavisCenter for Human Disease Modeling, Duke University, Durham, North Carolina 27701, USA.
Brunella FrancoTelethon Institute of Genetics and Medicine, TIGEM 80078, Italy.
Rachel H GilesDepartment of Nephrology and Hypertension, Regenerative Medicine Center, University Medical Center Utrecht, 3584 CT Utrecht, The Netherlands.ORCID 0000-0001-9133-2008
Marius UeffingMedical Proteome Center, Institute for Ophthalmic Research, University of Tuebingen, 72074 Tuebingen, Germany.
Robert B RussellBiochemie Zentrum Heidelberg (BZH), University of Heidelberg, Im Neuenheimer Feld 328, 69120 Heidelberg, Germany.ORCID 0000-0002-1905-4717
Ronald RoepmanDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.
UK10K Rare Diseases Group
Radboud University Nijmegen · NLWellcome Sanger Institute · GBUniversity College London · GBUniversity of Cambridge · GBCentre for Human Genetics · GBDuke University · USGreat Ormond Street Hospital · GBHeidelberg University · DEUniversity Medical Center Utrecht · NLCentre National de la Recherche Scientifique · FREuropean Molecular Biology Laboratory · DEFederico II University Hospital · ITJohannes Gutenberg University Mainz · DEUniversity Hospital Münster · DEWestern General Hospital · GBCenter for Integrated Protein Science Munich · DEGerman Center for Neurodegenerative Diseases · DEKing Abdulaziz Medical City · SATelethon Institute Of Genetics And Medicine · ITUniversity College Dublin · IE
Funding
Molecular Genetics of BBSR01HD042601 · NICHD · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI DAVIS, ERICA ELLEN · 2003 to 2023
$8.2MGenetic and Functional Studies of Human Ciliary SyndromesR01DK072301 · NIDDK · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI DAVIS, ERICA ELLEN · 2005 to 2022
$7.2MThe Role of Basa Bodies in Wnt SignalingR01DK075972 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI KATSANIS, NICHOLAS · 2007 to 2015
$3.1MModifiers of Retinal Phenotypes in CiliopathiesR01EY021872 · NEI · DUKE UNIVERSITY · PI DAVIS, ERICA ELLEN · 2011 to 2015
$1.9MThe Role of Basal Bodies in Wnt SignalingR01GM121317 · NIGMS · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI DAVIS, ERICA ELLEN · 2016 to 2019
$1.7MBritish Heart Foundation RG/10/17/28553NEI NIH HHS R01 EY021872NICHD NIH HHS R01 HD042601NIDDK NIH HHS R01 DK072301NIDDK NIH HHS R01 DK075972NIGMS NIH HHS R01 GM121317
Abstract
Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood organelles, where defects cause genetic diseases. Two hundred and seventeen tagged human ciliary proteins create a final landscape of 1,319 proteins, 4,905 interactions and 52 complexes. Reverse tagging, repetition of purifications and statistical analyses, produce a high-resolution network that reveals organelle-specific interactions and complexes not apparent in larger studies, and links vesicle transport, the cytoskeleton, signalling and ubiquitination to ciliary signalling and proteostasis. We observe sub-complexes in exocyst and intraflagellar transport complexes, which we validate biochemically, and by probing structurally predicted, disruptive, genetic variants from ciliary disease patients. The landscape suggests other genetic diseases could be ciliary including 3M syndrome. We show that 3M genes are involved in ciliogenesis, and that patient fibroblasts lack cilia. Overall, this organelle-specific targeting strategy shows considerable promise for Systems Medicine.
Indexed as
Protein Interaction MapsBiological TransportChromatography, AffinityCiliaCiliopathiesDatasets as TopicDNA Mutational AnalysisDwarfismFibroblastsHEK293 CellsHumansMass SpectrometryMolecular Targeted TherapyMuscle HypotoniaProtein Interaction MappingProteinsProteins
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