ArticleNature communications2017
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
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Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers.
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78citing papers in PubMed
19.2field-weighted citation impact, top 1% of its field
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Who cites it
78 citing papers in PubMed, 151 citations in OpenAlex.
- DNAAF19-RUVBL1/2 complex recruits multiple adaptors to promote dynein arm assembly.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- The essential role of cytoskeleton and ciliary abnormalities in the development of congenital pulmonary airway malformations.Pediatric surgery international · 2025Article
- DynAPs and cytoplasmic assembly of axonemal dyneins.Journal of cell science · 2025Article
- Identified Candidate Genes of Semen Trait in Three Pig Breeds Through Weighted GWAS and Multi-Tissue Transcriptome Analysis.Animals : an open access journal from MDPI · 2025Article
- Case Report: Minigene assays reveal a novelFrontiers in genetics · 2025Article
- Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview.Basic and clinical andrology · 2024Article
- Cotranslational molecular condensation of cochaperones and assembly factors facilitates axonemal dynein biogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- A range of 30-62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance.The European respiratory journal · 2024Article
- Decoding negative genetic panels in primary ciliary dyskinesia.Pediatric pulmonology · 2024Article
- Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations.Human molecular genetics · 2023Article
- A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review.Molecular genetics & genomic medicine · 2023Review
- Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.Journal of human genetics · 2023Article
- Article
- Genetic and protein interaction studies between the ciliary dyslexia candidate genes DYX1C1 and DCDC2.BMC molecular and cell biology · 2023Article
- Review
- PIH1D3-knockout rats exhibit full ciliopathy features and dysfunctional pre-assembly and loading of dynein arms in motile cilia.Frontiers in cell and developmental biology · 2023Article
- A novel mutation inFrontiers in endocrinology · 2023Article
- FBB18 participates in preassembly of almost all axonemal dyneins independent of R2TP complex.PLoS genetics · 2022Article
- The Role of Hsp90-R2TP in Macromolecular Complex Assembly and Stabilization.Biomolecules · 2022Review
- Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?Journal of cardiovascular development and disease · 2022Article
18 more citing papers are in PubMed but not listed here.
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Authors and funding
48 authors at 19 institutions in 8 countries.
Chiara OlceseDepartment of Genetic Medicine and Development, University of Geneva School of Medicine, CH-1211 Geneva, Switzerland.
Mitali P PatelGenetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK.
Amelia ShoemarkPaediatric Department, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK.
Santeri KiviluotoDepartment of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut 06520, USA.
Marie LegendreSorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
Hywel J WilliamsGOSgene, Genetics and Genomic Medicine Programme, University College London (UCL) Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
Cara K VaughanInstitute of Structural and Molecular Biology, University College London and Birkbeck College, Biological Sciences, Malet Street, London, WC1E 7HX, UK.
Jane HaywardGenetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK.
Alice GoldenbergService de Génétique, CHU de Rouen, INSERM U1079, Université de Rouen, Centre Normand de Génomique Médicale et Médecine Personnalisée, Rouen, France.
Richard D EmesSchool of Veterinary Medicine and Science, University of Nottingham, Sutton Bonington Campus, Leicestershire LE12 5RD, UK.
Mustafa M MunyeGenetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK.
Laura DyerGenetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK.
Thomas CahillPaediatric Department, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK.
Jeremy BevillardDepartment of Genetic Medicine and Development, University of Geneva School of Medicine, CH-1211 Geneva, Switzerland.
Corinne GehrigDepartment of Genetic Medicine and Development, University of Geneva School of Medicine, CH-1211 Geneva, Switzerland.
Michel GuipponiDepartment of Genetic Medicine and Development, University of Geneva School of Medicine, CH-1211 Geneva, Switzerland.
Sandra ChantotSorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
Philippe DuquesnoySorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
Lucie ThomasSorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
Ludovic JeansonSorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
Bruno CopinSorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
Aline TamaletService de Pneumologie Pédiatrique, Centre National de Référence des Maladies Respiratoires Rares, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
Christel Thauvin-RobinetCentre de génétique, CHU Dijon Bourgogne, Équipe EA4271 GAD, Université de Bourgogne, Hôpital François Mitterrand, 21000 Dijon, France.
Jean-François PaponService d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Maxillo-Faciale, Hôpital Bicêtre, AP-HP, Le Kremlin-Bicêtre 94275, France.
Antoine GarinService d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Maxillo-Faciale, Hôpital Bicêtre, AP-HP, Le Kremlin-Bicêtre 94275, France.
Isabelle PinPédiatrie, CHU Grenoble Alpes, INSERM U 1209, Institut for Advanced Biosciences, Université Grenoble Alpes, Grenoble, France.
Gabriella VeraService de Génétique, CHU de Rouen, INSERM U1079, Université de Rouen, Centre Normand de Génomique Médicale et Médecine Personnalisée, Rouen, France.
Paul AuroraDepartment of Paediatric Respiratory Medicine, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.
Mahmoud R FassadGenetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK.
Lucy JenkinsNorth East Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, Queen Square, London WC1N 3BH, UK.
Christopher BoustredNorth East Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, Queen Square, London WC1N 3BH, UK.
Thomas CullupNorth East Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, Queen Square, London WC1N 3BH, UK.
Mellisa DixonPaediatric Department, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK.
Alexandros OnoufriadisDepartment of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK.
Andrew BushPaediatric Department, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK.
Eddie M K ChungPopulation, Policy and Practice, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK.
Stylianos E AntonarakisDepartment of Genetic Medicine and Development, University of Geneva School of Medicine, CH-1211 Geneva, Switzerland.
Michael R LoebingerHost Defence Unit, Respiratory Medicine, Royal Brompton Hospital, London SW3 6NP, UK.
Robert WilsonHost Defence Unit, Respiratory Medicine, Royal Brompton Hospital, London SW3 6NP, UK.
Miguel ArmengotRhinology and Primary Ciliary Dyskinesia Unit, General and University Hospital, Medical School, Valencia University, Valencia E-46014, Spain.
Estelle EscudierSorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
Claire HoggPaediatric Department, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK.
UK10K Rare Group
Serge AmselemSorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
Zhaoxia SunDepartment of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut 06520, USA.
Lucia BartoloniDepartment of Genetic Medicine and Development, University of Geneva School of Medicine, CH-1211 Geneva, Switzerland.
Jean-Louis BlouinDepartment of Genetic Medicine and Development, University of Geneva School of Medicine, CH-1211 Geneva, Switzerland.
Hannah M MitchisonGenetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK.
Wellcome Sanger Institute · GBInserm · FRInstitute of Child Health · GRRoyal Brompton Hospital · GBUniversity College London · GBUniversity of Geneva · CHUniversity of Cambridge · GBGreat Ormond Street Hospital · GBCentre for Human Genetics · GBGreat Ormond Street Hospital for Children NHS Foundation Trust · GBAssistance Publique – Hôpitaux de Paris · FRYale University · USGuy's Hospital · GBInstitute of Structural and Molecular Biology · GBSorbonne Université · FRUniversitat de València · ESUniversité de Bourgogne · FRUniversity of Nottingham · GBWestern General Hospital · GB
Funding
Intraciliary calcium directs cardiac left-right asymmetryR01HL125885 · NHLBI · YALE UNIVERSITY · PI BRUECKNER, MARTINA, SUN, ZHAOXIA · 2015 to 2018
$2.3MFunction of Ruvbl1-Ruvbl2 in dynein arm assembly in motile ciliated epithelial cellsR01HL175156 · NHLBI · YALE UNIVERSITY · PI ZHAOXIA SUN · 2024 to 2026
$2.1MInvestigate kidney cyst formation and a cilia-mediated signaling networkR01DK092808 · NIDDK · YALE UNIVERSITY · PI SUN, ZHAOXIA · 2012 to 2015
$1.4MDepartment of Health NIHR-HCS-P13-04-004NHLBI NIH HHS R01 HL125885NHLBI NIH HHS R01 HL175156NIDDK NIH HHS R01 DK092808Wellcome Trust
Abstract
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of dynein arm motors into cilia and flagella axonemes. Before their import into cilia and flagella, multi-subunit axonemal dynein arms are thought to be stabilized and pre-assembled in the cytoplasm through a DNAAF2-DNAAF4-HSP90 complex akin to the HSP90 co-chaperone R2TP complex. Here, we demonstrate that large genomic deletions as well as point mutations involving PIH1D3 are responsible for an X-linked form of PCD causing disruption of early axonemal dynein assembly. We propose that PIH1D3, a protein that emerges as a new player of the cytoplasmic pre-assembly pathway, is part of a complementary conserved R2TP-like HSP90 co-chaperone complex, the loss of which affects assembly of a subset of inner arm dyneins.
Indexed as
AdolescentAdultAnimalsApoptosis Regulatory ProteinsAxonemal DyneinsAxonemeChildChild, PreschoolCiliaCytoplasmDisease Models, AnimalExome SequencingFemaleGenes, X-LinkedGenetic Diseases, X-LinkedHEK293 CellsApoptosis Regulatory ProteinsAxonemal DyneinsDNAAF6 protein, humanHSP90 Heat-Shock ProteinsIntracellular Signaling Peptides and ProteinsMicrotubule ProteinsMolecular Chaperones
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