ARP-T1 is a ciliogenesis protein associated with a novel ciliopathy in inherited basal cell cancer, Bazex-Dupré-Christol Syndrome
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ABSTRACTActin-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) 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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1960 ◽
Vol 2
(8)
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pp. 412
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1997 ◽
Vol 382
(1-2)
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pp. 45-55
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Role of Dietary Factors in the Development of Basal Cell Cancer and Squamous Cell Cancer of the Skin
2005 ◽
Vol 14
(7)
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pp. 1596-1607
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