ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.
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10 mai 2021
- doi: 10.1038/s42003-021-02054-9
- issn: 2399-3642
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info:eu-repo/semantics/altIdentifier/pmid/33972689
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info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_02DCA28E3A707
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Integument (Skin) Cutis Carcinoma Cancers Malignancy (Cancer) Malignant tumorsCiter ce document
H.S. Park et al., « ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies. », Serveur académique Lausannois, ID : 10.1038/s42003-021-02054-9
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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.