ArticleNature communications2015
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.
Erratum issuedOpen access · goldAbstract read
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Article in Nature communications, 2015. 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 39 papers.
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39citing papers in PubMed
6.4field-weighted citation impact, top 3% of its field
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Who cites it
39 citing papers in PubMed, 81 citations in OpenAlex.
- Structure Makes a Difference: IFT Complex in Ciliary Function and Ciliopathy.Cytoskeleton (Hoboken, N.J.) · 2026Review
- Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects.Communications biology · 2026Article
- Driver or passenger? A new assessment of genes in the schizophrenia-associated 3q29 deletion locus for contribution to neurodevelopmental disorders.Journal of neurodevelopmental disorders · 2026Review
- TCTEX1D2 is essential for sperm flagellum formation in mice.Scientific reports · 2025Article
- Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.Molecular genetics & genomic medicine · 2025Review
- Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation.Radiology case reports · 2024Article
- Identification of the principal neuropeptide MIP and its action pathway in larval settlement of the echiuran worm Urechis unicinctus.BMC genomics · 2024Article
- Emerging principles of primary cilia dynamics in controlling tissue organization and function.The EMBO journal · 2023Review
- Morphological Observation and Transcriptome Analysis of Ciliogenesis inInternational journal of molecular sciences · 2023Article
- Multiple interactions of the dynein-2 complex with the IFT-B complex are required for effective intraflagellar transport.Journal of cell science · 2023Article
- Molecular basis underlying the ciliary defects caused byMolecular biology of the cell · 2022Article
- Consensus nomenclature for dyneins and associated assembly factors.The Journal of cell biology · 2022Article
- WDR60-mediated dynein-2 loading into cilia powers retrograde IFT and transition zone crossing.The Journal of cell biology · 2022Article
- Clinical and genetic heterogeneity of primary ciliopathies (Review).International journal of molecular medicine · 2021Review
- Ciliary Dyneins and Dynein Related Ciliopathies.Cells · 2021Review
- Structural organization of the intermediate and light chain complex of Chlamydomonas ciliary I1 dynein.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Composition and function of ciliary inner-dynein-arm subunits studied in Chlamydomonas reinhardtii.Cytoskeleton (Hoboken, N.J.) · 2021Review
- Zebrafish Models for Human Skeletal Disorders.Frontiers in genetics · 2021Review
- Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.EMBO molecular medicine · 2020Article
- Intraflagellar transport trains and motors: Insights from structure.Seminars in cell & developmental biology · 2020Review
Corrections and comments
- Erratum issued
Authors and funding
28 authors at 20 institutions in 16 countries.
Miriam Schmidts1] Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK [2] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [3] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [4] Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstrasse 1, 79112 Freiburg, Germany.ORCID 0000000217146749
Yuqing HouDepartment of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA.
Claudio R CortésInstitute for Molecular Bioscience, The University of Queensland, St Lucia, Queensland 4072, Australia.
Dorus A Mans1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000000209091717
Celine HuberINSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France.
Karsten BoldtDivision of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, Tübingen 72074, Germany.
Mitali PatelGenetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
Jeroen van Reeuwijk1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000000206584399
Jean-Marc PlazaPlateforme de Bioinformatique, Institut Imagine, Université Paris Descartes, Paris 75015, France.
Sylvia E C van Beersum1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Zhi Min YapGenetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
Stef J F Letteboer1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
S Paige TaylorDepartments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles 90095, California, USA.
Warren HerridgeSection of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.
Colin A JohnsonSection of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.
Peter J ScamblerDevelopmental Biology and Cancer Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
Marius UeffingDivision of Experimental Ophthalmology and Medical Proteome Center, Center of Ophthalmology, University of Tübingen, Tübingen 72074, Germany.
Hulya Kayserili1] Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Turkey [2] Medical Genetics Department, Koc University School of Medicine, 34010 Istanbul, Turkey.
Deborah KrakowDepartments of Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles 90095, California, USA.
Stephen M KingDepartment of Molecular Biology and Biophysics and Institute for Systems Genomics, University of Connecticut Health Center, Farmington, Connecticut 06030, USA.
UK10K
Philip L Beales1] Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK [2] Centre for Translational Genomics-GOSgene, UCL Institute of Child Health, London WC1N 1EH, UK.
Lihadh Al-GazaliDepartment of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al Ain, United Arab Emirates.
Carol WickingInstitute for Molecular Bioscience, The University of Queensland, St Lucia, Queensland 4072, Australia.
Valerie Cormier-DaireINSERM UMR_1163, Département de génétique, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France.
Ronald Roepman1] Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands [2] Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Hannah M MitchisonGenetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
George B WitmanDepartment of Cell and Developmental Biology, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA.
Wellcome Sanger Institute · GBKing's College London · GBUniversity of Cambridge · GBGreat Ormond Street Hospital · GBBGI Group (China) · CNCentre for Human Genetics · GBRadboud University Nijmegen · NLUniversity of Leicester · GBThe University of Queensland · AUEast London NHS Foundation Trust · GBEuropean Bioinformatics Institute · GBInstitute of Child Health · GRUniversity of Bristol · GBUniversity of California, Los Angeles · USJewish General Hospital · CADélégation Paris 5 · FRKing Abdulaziz Medical City · SASt George's, University of London · GBUniversité du Québec à Montréal · CAUniversity of Aberdeen · GB
Funding
Vermont INBRE Administrative Supplement 2024 AWD 118P20GM103449 · NIGMS · UNIVERSITY OF VERMONT & ST AGRIC COLLEGE · PI CHRISTOPHER S FRANCKLYN · 2012 to 2026
$58.4MTraining Grant in Genomic Analysis and InterpretationT32HG002536 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Valerie A Arboleda, Harold Pimentel · 2002 to 2026
$8.6MMOLECULAR ANALYSIS OF FLAGELLAR DYNEIN FUNCTIONR01GM051293 · NIGMS · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI KING, STEPHEN M · 1995 to 2020
$6.9MFlagellar Motility and AssemlbyR37GM030626 · NIGMS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI WITMAN, GEORGE B · 2007 to 2016
$6.3MShort-rib polydactyly and the skeletal ciliopathiesR01DE019567 · NIDCR · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COHN, DANIEL H, KRAKOW, DEBORAH · 2009 to 2019
$3.5MExome sequencing in the skeletal dysplasiasR01AR062651 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI COHN, DANIEL H · 2013 to 2017
$1.7MUnraveling the mechanisms of prenatal-onset disorders affecting the skeletonR01AR066124 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI KRAKOW, DEBORAH · 2014 to 2018
$1.7MBritish Heart Foundation PG/07/045/22690British Heart Foundation RG/10/13/28570British Heart Foundation RG/10/17/28553Medical Research Council G0800509Medical Research Council MR/L010305/1NHGRI NIH HHS T32 HG002536NIAMS NIH HHS R01 AR062651NIAMS NIH HHS R01 AR066124NIDCR NIH HHS R01 DE019567NIGMS NIH HHS P20 GM103449NIGMS NIH HHS R01 GM051293NIGMS NIH HHS R37 GM030626Wellcome Trust 091551Wellcome Trust 095515Wellcome Trust 098498Wellcome Trust 100140Wellcome Trust 100574
Abstract
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions.
Indexed as
AnimalsChlamydomonas reinhardtiiCytoskeletal ProteinsDyneinsEllis-Van Creveld SyndromeFlagellaGene Knockdown TechniquesHEK293 CellsHumansMiceMutationPenetranceZebrafishCytoskeletal ProteinsDyneinsDYNLT2B protein, human
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