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ARP-T1 is a ciliary protein associated with a novel ciliopathy in inherited basal cell cancer, Bazex-Dupre-Christol Syndrome

Park, H.-S.; Pich, C.; Chiticariu, E.; Bachmann, D.; Papanastasi, E.; Blanchard, G.; Plomann, M.; Morice-Picard, F.; Vabres, P.; Smahi, A.; Huber, M.; Hohl, D.

2019-12-16 cancer biology
10.1101/2019.12.16.877498 bioRxiv
Show abstract

Actin-Related Protein-Testis1 (ARP-T1)/ ACTRT1 gene mutations cause the Bazex-Dupre-Christol Syndrome (BDCS) characterized by follicular atrophoderma, hypotrichosis and basal cell cancer. Here, we report an ARP-T1 interactome (PXD016557) involved in ciliogenesis, endosomal recycling and septin ring formation. Consequently, ARP-T1 localizes to the midbody during cytokinesis and the basal body of primary cilia in G0. Tissue samples from BDCS patients show reduced ciliary length with significant correlations of ARP-T1 expression levels, confirmed by ACTRT1 knock down. We report that BDCS is a novel ciliopathy and the first case of a skin cancer ciliopathy, where ARP-T1 plays a critical role to prevent pathogenesis.

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