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

Date publication

mai 2021

Journal

Communications biology

Auteurs

Membres identifiés du Cancéropôle Est :
Pr VABRES Pierre

Tous les auteurs :
Park HS, Papanastasi E, Blanchard G, Chiticariu E, Bachmann D, Plomann M, Morice-Picard F, Vabres P, Smahi A, Huber M, Pich C, Hohl D

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/33972689

Résumé

Actin-Related Protein-Testis1 (ARP-T1)/ACTRT1 gene mutations cause the Bazex-Dupré-Christol Syndrome (BDCS) characterized by follicular atrophoderma, hypotrichosis, and basal cell cancer. Here, we report an ARP-T1 interactome (PXD016557) that includes proteins involved in ciliogenesis, endosomal recycling, and septin ring formation. In agreement, ARP-T1 localizes to the midbody during cytokinesis and the basal body of primary cilia in interphase. Tissue samples from ARP-T1-associated BDCS patients have reduced ciliary length. The severity of the shortened cilia significantly correlates with the ARP-T1 levels, which was further validated by ACTRT1 knockdown in culture cells. Thus, we propose that ARP-T1 participates in the regulation of cilia length and that ARP-T1-associated BDCS is a case of skin cancer with ciliopathy characteristics.

Référence

Commun Biol. 2021 May 10;4(1):544