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
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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