ArticleNature genetics2014
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
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Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers.
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84 citing papers in PubMed, 145 citations in OpenAlex.
- Identification of novel genes regulating the development of the palate.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Article
- Critical constituents and assembly principles of centriole biogenesis in human cells.Nature reviews. Molecular cell biology · 2026Review
- Ciliary-Mediated Mechanotransduction in Skeletal Development and Diseases.Results and problems in cell differentiation · 2026Review
- The luminal ring protein C2CD3 acts as a radial in-to-out organizer of the distal centriole and appendages.PLoS biology · 2025Article
- C. elegans SAS-1 ensures centriole integrity and ciliary function, and operates with SSNA-1.PLoS genetics · 2025Article
- C. elegans SSNA-1 is required for the structural integrity of centrioles and bipolar spindle assembly.Nature communications · 2025Article
- Centrobin serves as a safeguard to guide timely centriole maturation during the cell cycle.Scientific reports · 2025Article
- Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.Human molecular genetics · 2025Article
- TheFrontiers in medicine · 2025Review
- ThebioRxiv : the preprint server for biology · 2024Article
- Article
- Molecular basis promoting centriole triplet microtubule assembly.Nature communications · 2024Article
- Emerging insights into CP110 removal during early steps of ciliogenesis.Journal of cell science · 2024Review
- Multiple Fibrolipomas of the Tongue: A Rare Case Report of a Pediatric Patient With Whole Exome Sequencing of the C2CD3 Gene.Case reports in dentistry · 2024Article
- Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene,Case reports in genetics · 2024Article
- Aberrant centrosome biogenesis disrupts nephron and collecting duct progenitor growth and fate resulting in fibrocystic kidney disease.Development (Cambridge, England) · 2023Article
- Centriole elimination during Caenorhabditis elegans oogenesis initiates with loss of the central tube protein SAS-1.The EMBO journal · 2023Article
- Towards understanding centriole elimination.Open biology · 2023Review
- Plasmodium falciparum infection of human erythroblasts induces transcriptional changes associated with dyserythropoiesis.Blood advances · 2023Article
- Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.Human molecular genetics · 2023Article
24 more citing papers are in PubMed but not listed here.
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Authors and funding
29 authors at 8 institutions in 6 countries.
Christel Thauvin-Robinet1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Centre de Référence Maladies Rares "Anomalies du Développement et Syndromes Malformatifs" de l'Est, Centre de Génétique et Pédiatrie 1, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon, Dijon, France. [3].
Jaclyn S Lee1] Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, California, USA. [2].
Estelle LopezEquipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France.
Vicente Herranz-Pérez1] Laboratorio de Neurobiología Comparada, Instituto Cavanilles, Universitat de València, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas, Valencia, Spain. [2] Unidad Mixta de Esclerosis Múltiple y Neurorregeneración, Instituto de Investigación Sanitaria Hospital La Fe, Universitat de València, Valencia, Spain.
Toshinobu ShidaDepartment of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, California, USA.
Brunella Franco1] Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy. [2] Department of Medical Translational Sciences, Division of Pediatrics, Federico II University of Naples, Naples, Italy.
Laurence JegoEquipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France.
Fan YeDepartment of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, California, USA.
Laurent PasquierCentre de Référence Maladies Rares "Anomalies du Développement et Syndromes Malformatifs" de l'Ouest, Unité Fonctionnelle de Génétique Médicale, Centre Hospitalier Universitaire Rennes, Rennes, France.
Philippe LogetLaboratoire d'Anatomie-Pathologie, Centre Hospitalier Universitaire Rennes, Rennes, France.
Nadège Gigot1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, Dijon, France.
Bernard Aral1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, Dijon, France.
Carla A M LopesDepartment of Biochemistry, University of Leicester, Leicester, UK.
Judith St-Onge1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, Dijon, France.
Ange-Line BruelEquipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France.
Julien Thevenon1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Centre de Référence Maladies Rares "Anomalies du Développement et Syndromes Malformatifs" de l'Est, Centre de Génétique et Pédiatrie 1, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon, Dijon, France.ORCID 0000000192713961
Susana González-Granero1] Laboratorio de Neurobiología Comparada, Instituto Cavanilles, Universitat de València, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas, Valencia, Spain. [2] Unidad Mixta de Esclerosis Múltiple y Neurorregeneración, Instituto de Investigación Sanitaria Hospital La Fe, Universitat de València, Valencia, Spain.
Caroline Alby1] INSERM U781, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France. [2] Paris Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Paris, France.
Arnold Munnich1] INSERM U781, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France. [2] Paris Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Paris, France. [3] Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
Michel Vekemans1] INSERM U781, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France. [2] Paris Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Paris, France. [3] Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
Frédéric Huet1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Centre de Référence Maladies Rares "Anomalies du Développement et Syndromes Malformatifs" de l'Est, Centre de Génétique et Pédiatrie 1, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon, Dijon, France.
Andrew M FryDepartment of Biochemistry, University of Leicester, Leicester, UK.
Sophie Saunier1] Paris Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Paris, France. [2] INSERM, UMRS 1163, Laboratory of Inherited Kidney Diseases, Paris, France.
Jean-Baptiste Rivière1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, Dijon, France.ORCID 0000000191444210
Tania Attié-Bitach1] INSERM U781, Institut IMAGINE, Hôpital Necker-Enfants Malades, Paris, France. [2] Paris Descartes-Sorbonne Paris Cité University, Institut IMAGINE, Paris, France. [3] Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
Jose Manuel Garcia-Verdugo1] Laboratorio de Neurobiología Comparada, Instituto Cavanilles, Universitat de València, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas, Valencia, Spain. [2] Unidad Mixta de Esclerosis Múltiple y Neurorregeneración, Instituto de Investigación Sanitaria Hospital La Fe, Universitat de València, Valencia, Spain.
Laurence Faivre1] Equipe d'Accueil 4271 Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire, Université de Bourgogne, Dijon, France. [2] Centre de Référence Maladies Rares "Anomalies du Développement et Syndromes Malformatifs" de l'Est, Centre de Génétique et Pédiatrie 1, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon, Dijon, France.
André MégarbanéUnité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
Maxence V NachuryDepartment of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, California, USA.ORCID 0000000349181562
Université de Bourgogne · FRDélégation Paris 5 · FRStanford University · USUniversitat de València · ESCentre Hospitalier Universitaire de Rennes · FRUniversity of Leicester · GBSaint Joseph University · LBTelethon Institute Of Genetics And Medicine · IT
Funding
Comprehensive 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
$10.2MQuality control of the primary cilium proteomeR01GM089933 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Maxence V Nachury · 2010 to 2026
$5.8MARRA - NHLBI Lung Cohorts Sequencing ProjectRC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2009 to 2009
$2.6MARRA - NHLBI Lung Cohorts Sequencing ProjectUC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2010 to 2010
$2.6MWHI Sequencing Project (WHISP)UC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2010 to 2010
$2.4MWHI Sequencing Project (WHISP)RC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2009 to 2009
$2.1MHuman Exome Sequencing in Six Well-Phenotyped NHLBI CohortsUC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2010 to 2010
$1.5MHuman Exome Sequencing in Six Well-Phenotyped NHLBI CohortsRC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2009 to 2009
$817kNHLBI NIH HHS HL-102923NHLBI NIH HHS HL-102924NHLBI NIH HHS HL-102925NHLBI NIH HHS HL-102926NHLBI NIH HHS HL-103010NHLBI 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 HL103010NIGMS NIH HHS GM089933NIGMS NIH HHS R01 GM089933Telethon TGM11CB3Wellcome Trust
Abstract
Centrioles are microtubule-based, barrel-shaped structures that initiate the assembly of centrosomes and cilia. How centriole length is precisely set remains elusive. The microcephaly protein CPAP (also known as MCPH6) promotes procentriole growth, whereas the oral-facial-digital (OFD) syndrome protein OFD1 represses centriole elongation. Here we uncover a new subtype of OFD with severe microcephaly and cerebral malformations and identify distinct mutations in two affected families in the evolutionarily conserved C2CD3 gene. Concordant with the clinical overlap, C2CD3 colocalizes with OFD1 at the distal end of centrioles, and C2CD3 physically associates with OFD1. However, whereas OFD1 deletion leads to centriole hyperelongation, loss of C2CD3 results in short centrioles without subdistal and distal appendages. Because C2CD3 overexpression triggers centriole hyperelongation and OFD1 antagonizes this activity, we propose that C2CD3 directly promotes centriole elongation and that OFD1 acts as a negative regulator of C2CD3. Our results identify regulation of centriole length as an emerging pathogenic mechanism in ciliopathies.
Indexed as
Cell LineCentriolesChild, PreschoolGenetic Predisposition to DiseaseHEK293 CellsHumansMaleMicrocephalyMicrotubule-Associated ProteinsOrofaciodigital SyndromesProteinsC2cd3 protein, humanMicrotubule-Associated ProteinsOFD1 protein, humanProteins
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