bioRxivCancer BiologyPreprint
ARP-T1 is a ciliogenesis protein associated with a novel ciliopathy in inherited basal cell cancer, Bazex-Dupre-Christol Syndrome
H.-S. Park, E. Papanastasi, G. Blanchard, E. Chiticariu, D. Bachmann, M. Plomann, F. Morice-Picard, P. Vabres, A. Smahi, M. Huber, C. Pich, D. Hohl
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.
- organism: human
- assay: proteomics
- research focus: cell type annotation
- research focus: differential expression
- research focus: cell signaling & trafficking
- research focus: development & morphogenesis
- approach: experimental assay
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