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.

doi:10.1101/2019.12.16.877498

bioRxiv · 10.1101/2019.12.16.877498

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.

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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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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. ARP-T1 is a ciliary protein associated with a novel ciliopathy in inherited basal cell cancer, Bazex-Dupre-Christol Syndrome. https://doi.org/10.1101/2019.12.16.877498

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