Communications Biology (May 2021)

ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies

  • Hyun-Sook Park,
  • Eirini Papanastasi,
  • Gabriela Blanchard,
  • Elena Chiticariu,
  • Daniel Bachmann,
  • Markus Plomann,
  • Fanny Morice-Picard,
  • Pierre Vabres,
  • Asma Smahi,
  • Marcel Huber,
  • Christine Pich,
  • Daniel Hohl

DOI
https://doi.org/10.1038/s42003-021-02054-9
Journal volume & issue
Vol. 4, no. 1
pp. 1 – 13

Abstract

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Park et al. characterise the interactome, localisation and function of Actin-Related Protein-Testis1 protein (ARP-T1), encoded by the ACTRT1 gene, associated with inherited basal cell cancer. They find that ARP-T1 is localised to the primary cilia basal body in epidermal cells, interacts with the cilia machinery, and is needed for proper ciliogenesis.