ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies

Article Article scientifique Article ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies eng 2021-05-10 2021-05-10 author Park Hyun-Sook Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland. author Papanastasi Eirini 0000-0002-9223-7659 Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland. author Blanchard Gabriela 0000-0001-7020-0751 Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland. author Chiticariu Elena Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland. author Bachmann Daniel Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland. 49662 author Plomann Markus 0000-0001-6509-5627 Center for Biochemistry, University of Cologne, Cologne, Germany. author Morice-Picard Fanny Department of Dermatology, CHU, Hôpital Pellegrin, Bordeaux, France. author Vabres Pierre 0000-0001-8693-3183 Department of Dermatology, CHU, Hôpital du Bocage, Dijon, France. author Smahi Asma 0000-0002-6002-0981 Paris Descartes University, Sorbonne Paris Cité, Paris, France.,IMAGINE Institute INSERM UMR 1163, Paris, France. author Huber Gaëtan Marcel Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland. 856977 author Pich Christine 0000-0002-6526-749X Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland. author Hohl Daniel Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland. daniel.hohl@chuv.ch. 544 10.1038/s42003-021-02054-9 33972689 2399-3642 PMC8110579 https://www.nature.com/articles/s42003-021-02054-9 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. Carcinoma, Basal Cell / genetics Carcinoma, Basal Cell / metabolism Carcinoma, Basal Cell / pathology Cilia / metabolism Cilia / pathology Ciliopathies / genetics Ciliopathies / metabolism Ciliopathies / pathology Humans 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 true 576 Inflammation cutanée 919 Communications biology 4 1 3eb7d471-5e40-4b2b-b7c8-4e8dca120f29 Article (Published version) Public 42003_2021_Article_2054.pdf 3928610 application/pdf CC BY-4.0 ddbb0df734baedc4ef246bb7deff14c6a189e7b0902c63d735f4b5d5d1c3f7ee openAccess

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