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


Journal

Communications biology
ISSN: 2399-3642
Titre abrégé: Commun Biol
Pays: England
ID NLM: 101719179

Informations de publication

Date de publication:
10 05 2021
Historique:
received: 28 01 2020
accepted: 30 03 2021
entrez: 11 5 2021
pubmed: 12 5 2021
medline: 10 8 2021
Statut: epublish

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.

Identifiants

pubmed: 33972689
doi: 10.1038/s42003-021-02054-9
pii: 10.1038/s42003-021-02054-9
pmc: PMC8110579
doi:

Substances chimiques

ACTRT1 protein, human 0
Microfilament Proteins 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

544

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Auteurs

Hyun-Sook Park (HS)

Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland.

Eirini Papanastasi (E)

Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland.

Gabriela Blanchard (G)

Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland.

Elena Chiticariu (E)

Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland.

Daniel Bachmann (D)

Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland.

Markus Plomann (M)

Center for Biochemistry, University of Cologne, Cologne, Germany.

Fanny Morice-Picard (F)

Department of Dermatology, CHU, Hôpital Pellegrin, Bordeaux, France.

Pierre Vabres (P)

Department of Dermatology, CHU, Hôpital du Bocage, Dijon, France.

Asma Smahi (A)

Paris Descartes University, Sorbonne Paris Cité, Paris, France.
IMAGINE Institute INSERM UMR 1163, Paris, France.

Marcel Huber (M)

Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland.

Christine Pich (C)

Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland.

Daniel Hohl (D)

Department of Dermatology, CHUV-FBM UNIL, Hôpital de Beaumont, Lausanne, Switzerland. daniel.hohl@chuv.ch.

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