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Published January 1, 2015 | Version v1
Journal article Open

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

Creators

  • 1. Univ Massachusetts, Sch Med, Dept Cell & Dev Biol, Worcester, MA 01655 USA
  • 2. Univ Queensland, Inst Mol Biosci, St Lucia, Qld 4072, Australia
  • 3. Univ Paris 05, AP HP, Hop Necker Enfants Malad,UMR 1163, Sorbonne Paris Cite,INSERM,Inst Imagine,Dept Gene, F-75015 Paris, France
  • 4. UCL, Inst Child Hlth, Genet & Genom Med Programme, London WC1N 1EH, England
  • 5. Univ Paris 05, Plateforme Bioinformat Inst Imagine, F-75015 Paris, France
  • 6. Univ Leeds, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England
  • 7. UCL, Inst Child Hlth, Dev Biol & Canc Programme, London WC1N 1EH, England
  • 8. Univ Connecticut, Ctr Hlth, Dept Mol Biol & Biophys & Inst Syst Genom, Farmington, CT 06030 USA

Description

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.

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