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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

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  • Miriam Schmidts

    (Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health
    Radboud University Medical Center
    Radboud Institute for Molecular Life Sciences, Radboud University Medical Center
    Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg)

  • Yuqing Hou

    (University of Massachusetts Medical School)

  • Claudio R. Cortés

    (Institute for Molecular Bioscience, The University of Queensland)

  • Dorus A. Mans

    (Radboud University Medical Center
    Radboud Institute for Molecular Life Sciences, Radboud University Medical Center)

  • Celine Huber

    (INSERM UMR_1163, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris)

  • Karsten Boldt

    (Center of Ophthalmology, University of Tübingen)

  • Mitali Patel

    (Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health)

  • Jeroen van Reeuwijk

    (Radboud University Medical Center
    Radboud Institute for Molecular Life Sciences, Radboud University Medical Center)

  • Jean-Marc Plaza

    (Plateforme de Bioinformatique, Institut Imagine, Université Paris Descartes)

  • Sylvia E. C. van Beersum

    (Radboud University Medical Center
    Radboud Institute for Molecular Life Sciences, Radboud University Medical Center)

  • Zhi Min Yap

    (Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health)

  • Stef J. F. Letteboer

    (Radboud University Medical Center
    Radboud Institute for Molecular Life Sciences, Radboud University Medical Center)

  • S. Paige Taylor

    (David Geffen School of Medicine at UCLA)

  • Warren Herridge

    (Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds)

  • Colin A. Johnson

    (Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds)

  • Peter J. Scambler

    (Developmental Biology and Cancer Programme, University College London (UCL), Institute of Child Health)

  • Marius Ueffing

    (Center of Ophthalmology, University of Tübingen)

  • Hulya Kayserili

    (Istanbul Medical Faculty, Istanbul University
    Koc University School of Medicine)

  • Deborah Krakow

    (David Geffen School of Medicine at UCLA)

  • Stephen M. King

    (University of Connecticut Health Center)

  • Philip L. Beales

    (Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health
    Centre for Translational Genomics-GOSgene, UCL Institute of Child Health)

  • Lihadh Al-Gazali

    (College of Medicine and Health Sciences, United Arab Emirates University)

  • Carol Wicking

    (Institute for Molecular Bioscience, The University of Queensland)

  • Valerie Cormier-Daire

    (INSERM UMR_1163, Institut Imagine, Université Paris Descartes Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris)

  • Ronald Roepman

    (Radboud University Medical Center
    Radboud Institute for Molecular Life Sciences, Radboud University Medical Center)

  • Hannah M. Mitchison

    (Genetics and Genomic Medicine Programme, University College London (UCL), Institute of Child Health)

  • George B. Witman

    (University of Massachusetts Medical School)

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.

Suggested Citation

  • Miriam Schmidts & Yuqing Hou & Claudio R. Cortés & Dorus A. Mans & Celine Huber & Karsten Boldt & Mitali Patel & Jeroen van Reeuwijk & Jean-Marc Plaza & Sylvia E. C. van Beersum & Zhi Min Yap & Stef J, 2015. "TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport," Nature Communications, Nature, vol. 6(1), pages 1-14, November.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms8074
    DOI: 10.1038/ncomms8074
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