ArticleNature genetics2016
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
Erratum issuedOpen access · greenAbstract read
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Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 105 papers, 1 of them a synthesis that pooled it.
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105citing papers in PubMed, 1 pooled it
15.3field-weighted citation impact, top 1% of its field
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Who cites it
105 citing papers in PubMed, 1 synthesis or guideline pooled it, 172 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
- The planar cell polarity protein Vangl2 interacts with the PDZ-domains of Scribble but not with a unique PDZ-like domain in Inturned.FEBS letters · 2026Article
- Phenotypic Expansion and Molecular Implications in Recessive FUZ -Related Ciliopathy.Clinical genetics · 2026Article
- A protein interactome for the last eukaryotic common ancestor illuminates the biochemical basis of modern genetic diseases.Cell genomics · 2026Article
- Article
- Co-occurrence of rare variants implicates gene pairs in cytoskeletal pathways and is associated with increased severity in autism spectrum disorder.Genome biology · 2026Article
- Broadening horizons: new links between cilia and heart development and disease.Frontiers in cardiovascular medicine · 2026Review
- Expanding the phenotype associated with biallelic SCNM1 variants.Human genomics · 2025Article
- Identification of conserved residues essential for the ciliogenic functions of WDPCP.Disease models & mechanisms · 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
- Identification of novel interacting proteins of FUZ and GPR161.bioRxiv : the preprint server for biology · 2025Article
- Mechanistic adaptation of the metazoan RabGEFs Mon1-Ccz1 and Fuzzy-Inturned.Science advances · 2025Article
- The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.Nature communications · 2025Article
- Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway.Journal of cellular and molecular medicine · 2025Article
- The intraflagellar transport cycle.Nature reviews. Molecular cell biology · 2025Review
- Primary cilia and their role in preeclampsia.International journal of medical sciences · 2025Review
- Permanent cilia loss during cerebellar granule cell neurogenesis involves withdrawal of cilia maintenance and centriole capping.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum.European journal of human genetics : EJHG · 2024Article
- Linkage between Fuz and Gpr161 genes regulates sonic hedgehog signaling during mouse neural tube development.Development (Cambridge, England) · 2024Article
45 more citing papers are in PubMed but not listed here.
Corrections and comments
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- Erratum issued
Authors and funding
33 authors at 9 institutions in 5 countries.
Michinori ToriyamaDepartment of Molecular Biosciences, University of Texas at Austin, Austin, Texas, USA.
Chanjae LeeDepartment of Molecular Biosciences, University of Texas at Austin, Austin, Texas, USA.
S Paige TaylorDepartment of Orthopaedic Surgery, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
Ivan DuranDepartment of Orthopaedic Surgery, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.ORCID 0000-0001-6097-0402
Daniel H CohnDepartment of Molecular, Cell and Developmental Biology, University of California, Los Angeles, Los Angeles, California, USA.
Ange-Line BruelEA4271GAD Genetics of Developmental Anomalies, FHU-TRANSLAD, Medecine Faculty, Burgundy University, Dijon, France.
Jacqueline M TablerDepartment of Molecular Biosciences, University of Texas at Austin, Austin, Texas, USA.
Kevin DrewDepartment of Molecular Biosciences, University of Texas at Austin, Austin, Texas, USA.
Marcus R KellyBaxter Laboratory, Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, California, USA.
Sukyoung KimDepartment of Molecular Biosciences, University of Texas at Austin, Austin, Texas, USA.
Tae Joo ParkDepartment of Molecular Biosciences, University of Texas at Austin, Austin, Texas, USA.ORCID 0000-0003-3176-177X
Daniela A BraunHoward Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Ghislaine PierquinClinical Genetics Centre, University Hospital Center, Liège, Belgium.
Armand BiverPediatric Unit, Hospital Center, Luxemburg, Luxembourg.
Kerstin WagnerCardiological Pediatric Unit, Hospital Center, Luxemburg, Luxembourg.
Anne MalfrootClinic of Pediatric Respiratory Diseases, Universitair Ziekenhuis Brussel, Brussels, Belgium.
Inusha PanigrahiDepartment of Pediatrics Advanced, Pediatric Centre Pigmer, Chandigarh, India.
Brunella FrancoDivision of Pediatrics, Department of Medical Translational Sciences, Federico II University of Naples, Naples, Italy.
Hadeel Adel Al-LamiDepartment of Craniofacial and Stem Cell Biology, Dental Institute, King's College London, London, UK.ORCID 0000-0003-1255-3481
Yvonne YeungDepartment of Craniofacial and Stem Cell Biology, Dental Institute, King's College London, London, UK.
Yeon Ja ChoiDepartment of Pathology, Stony Brook University, Stony Brook, New York, USA.
University of Washington Center for Mendelian Genomics
Yannis DuffourdEA4271GAD Genetics of Developmental Anomalies, FHU-TRANSLAD, Medecine Faculty, Burgundy University, Dijon, France.
Laurence FaivreEA4271GAD Genetics of Developmental Anomalies, FHU-TRANSLAD, Medecine Faculty, Burgundy University, Dijon, France.
Jean-Baptiste RivièreEA4271GAD Genetics of Developmental Anomalies, FHU-TRANSLAD, Medecine Faculty, Burgundy University, Dijon, France.ORCID 0000-0001-9144-4210
Jiang ChenDepartment of Pathology, Stony Brook University, Stony Brook, New York, USA.
Karen J LiuDepartment of Craniofacial and Stem Cell Biology, Dental Institute, King's College London, London, UK.
Edward M MarcotteDepartment of Molecular Biosciences, University of Texas at Austin, Austin, Texas, USA.
Friedhelm HildebrandtHoward Hughes Medical Institute, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Christel Thauvin-RobinetEA4271GAD Genetics of Developmental Anomalies, FHU-TRANSLAD, Medecine Faculty, Burgundy University, Dijon, France.
Deborah KrakowDepartment of Molecular, Cell and Developmental Biology, University of California, Los Angeles, Los Angeles, California, USA.
Peter K JacksonBaxter Laboratory, Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, California, USA.
John B WallingfordDepartment of Molecular Biosciences, University of Texas at Austin, Austin, Texas, USA.
The University of Texas at Austin · USUniversité de Bourgogne · FRUniversity of California, Los Angeles · USKing's College London · GBBoston Children's Hospital · USStanford University · USStony Brook University · USTelethon Institute Of Genetics And Medicine · ITUniversitair Ziekenhuis Brussel · BE
Funding
UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0MUW 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
$15.3MYale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8MComprehensive Sequencing and Analysis of Variation in NHLBI CohortsUC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2010 to 2010
$14.7MNorthwest Genomics CenterUC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2010 to 2010
$14.0MNorthwest Genomics CenterRC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2009 to 2009
$11.0MComprehensive Sequencing and Analysis of Variation in NHLBI CohortsRC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2009 to 2009
$10.2MNovel genetics, pathobiology & therapy of nephronophthisis-related ciliopathiesR01DK068306 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2004 to 2022
$6.6MDevelopment and function in mucociliary epitheliaR01HL117164 · NHLBI · UNIVERSITY OF TEXAS AT AUSTIN · PI John B Wallingford · 2013 to 2026
$4.7MMechanisms of Ciliary Signaling Controlling Obesity and Metabolic DiseaseR01GM121565 · NIGMS · STANFORD UNIVERSITY · PI JACKSON, PETER KENT · 2017 to 2025
$4.3MPlanar Cell Polarity Signaling in Hair Follicle FormationR01AR061485 · NIAMS · UNIVERSITY OF COLORADO DENVER · PI CHEN, JIANG · 2011 to 2021
$3.8MBiotechnology and Biological Sciences Research Council BB/K010492/1Howard Hughes Medical InstituteMedical Research Council MR/L017237/1NCATS NIH HHS UL1 TR000124NHGRI NIH HHS U54 HG006493NHGRI NIH HHS UM1 HG006493NHGRI NIH HHS UM1 HG006504NHLBI NIH HHS R01 HL117164NHLBI NIH HHS RC2 HL102923NHLBI NIH HHS RC2 HL102924NHLBI NIH HHS RC2 HL102925NHLBI NIH HHS RC2 HL102926NHLBI NIH HHS RC2 HL103010NHLBI NIH HHS UC2 HL102923NHLBI NIH HHS UC2 HL102924NHLBI NIH HHS UC2 HL102925NHLBI NIH HHS UC2 HL102926NHLBI NIH HHS UC2 HL103010NIAMS NIH HHS R01 AR061485NIAMS NIH HHS R01 AR062651NIAMS NIH HHS R01 AR066124NIDDK NIH HHS R01 DK068306NIGMS NIH HHS DP1 GM106408NIGMS NIH HHS F32 GM112495NIGMS NIH HHS R01 GM086627NIGMS NIH HHS R01 GM104853NIGMS NIH HHS R01 GM114276NIGMS NIH HHS R01 GM121565
Abstract
Cilia use microtubule-based intraflagellar transport (IFT) to organize intercellular signaling. Ciliopathies are a spectrum of human diseases resulting from defects in cilia structure or function. The mechanisms regulating the assembly of ciliary multiprotein complexes and the transport of these complexes to the base of cilia remain largely unknown. Combining proteomics, in vivo imaging and genetic analysis of proteins linked to planar cell polarity (Inturned, Fuzzy and Wdpcp), we identified and characterized a new genetic module, which we term CPLANE (ciliogenesis and planar polarity effector), and an extensive associated protein network. CPLANE proteins physically and functionally interact with the poorly understood ciliopathy-associated protein Jbts17 at basal bodies, where they act to recruit a specific subset of IFT-A proteins. In the absence of CPLANE, defective IFT-A particles enter the axoneme and IFT-B trafficking is severely perturbed. Accordingly, mutation of CPLANE genes elicits specific ciliopathy phenotypes in mouse models and is associated with ciliopathies in human patients.
Indexed as
AnimalsCiliopathiesFlagellaHumansMiceMutationPhenotypeProtein BindingProteinsProtein TransportProteins
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