ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies
Autor: | Christine Pich, Asma Smahi, Daniel Hohl, Elena Chiticariu, Hyun-Sook Park, Gabriela Blanchard, Marcel Huber, Markus Plomann, Fanny Morice-Picard, Eirini Papanastasi, Pierre Vabres, Daniel Bachmann |
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Rok vydání: | 2020 |
Předmět: |
Keratinocytes
Skin Neoplasms QH301-705.5 Medicine (miscellaneous) Biology Hypotrichosis Ciliopathies General Biochemistry Genetics and Molecular Biology Article 03 medical and health sciences 0302 clinical medicine Ciliogenesis medicine Basal body Humans Cilia Biology (General) 030304 developmental biology Neoplasms Basal Cell 0303 health sciences Cilium Microfilament Proteins medicine.disease Cell biology Ciliopathy Septin ring Midbody Carcinoma Basal Cell Outcomes research Carcinoma Basal Cell/genetics Carcinoma Basal Cell/metabolism Carcinoma Basal Cell/pathology Cilia/metabolism Cilia/pathology Ciliopathies/genetics Ciliopathies/metabolism Ciliopathies/pathology Hypotrichosis/genetics Hypotrichosis/metabolism Hypotrichosis/pathology Keratinocytes/metabolism Keratinocytes/pathology Microfilament Proteins/genetics Microfilament Proteins/metabolism Mutation Neoplasms Basal Cell/genetics Neoplasms Basal Cell/metabolism Neoplasms Basal Cell/pathology Skin Neoplasms/genetics Skin Neoplasms/metabolism Skin Neoplasms/pathology 030220 oncology & carcinogenesis Basal cell carcinoma Bazex–Dupré–Christol syndrome General Agricultural and Biological Sciences |
Zdroj: | Communications Biology Communications Biology, Vol 4, Iss 1, Pp 1-13 (2021) Communications biology, vol. 4, no. 1, pp. 544 |
ISSN: | 2399-3642 |
Popis: | 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. Park et al. characterise the interactome, localisation and function of Actin-Related Protein-Testis1 protein (ARP-T1), encoded by the ACTRT1 gene, associated with inherited basal cell cancer. They find that ARP-T1 is localised to the primary cilia basal body in epidermal cells, interacts with the cilia machinery, and is needed for proper ciliogenesis. |
Databáze: | OpenAIRE |
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