ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.
Détails
Télécharger: Park et al. - 2021 - ARP-T1-associated Bazex–Dupré–Christol syndrome is.pdf (3835.52 [Ko])
Etat: Public
Version: Final published version
Licence: CC BY 4.0
Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_02DCA28E3A70
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.
Périodique
Communications biology
ISSN
2399-3642 (Electronic)
ISSN-L
2399-3642
Statut éditorial
Publié
Date de publication
10/05/2021
Peer-reviewed
Oui
Volume
4
Numéro
1
Pages
544
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Publication Status: 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.
Mots-clé
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
Pubmed
Web of science
Open Access
Oui
Création de la notice
19/05/2021 15:32
Dernière modification de la notice
28/02/2023 7:52