Universität zu Köln

Park, Hyun-Sook, Papanastasi, Eirini, Blanchard, Gabriela, Chiticariu, Elena, Bachmann, Daniel, Plomann, Markus ORCID: 0000-0001-6509-5627, Morice-Picard, Fanny, Vabres, Pierre ORCID: 0000-0001-8693-3183, Smahi, Asma, Huber, Marcel, Pich, Christine and Hohl, Daniel (2021). ARP-T1-associated Bazex-Dupre-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies. Commun. Biol., 4 (1). BERLIN: NATURE PORTFOLIO. ISSN 2399-3642

Full text not available from this repository.

Abstract

Actin-Related Protein-Testis1 (ARP-T1)/ACTRT1 gene mutations cause the Bazex-Dupre-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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Park, Hyun-Sook UNSPECIFIED UNSPECIFIED UNSPECIFIED Papanastasi, Eirini UNSPECIFIED UNSPECIFIED UNSPECIFIED Blanchard, Gabriela UNSPECIFIED UNSPECIFIED UNSPECIFIED Chiticariu, Elena UNSPECIFIED UNSPECIFIED UNSPECIFIED Bachmann, Daniel UNSPECIFIED UNSPECIFIED UNSPECIFIED Plomann, Markus UNSPECIFIED orcid.org/0000-0001-6509-5627 UNSPECIFIED Morice-Picard, Fanny UNSPECIFIED UNSPECIFIED UNSPECIFIED Vabres, Pierre UNSPECIFIED orcid.org/0000-0001-8693-3183 UNSPECIFIED Smahi, Asma UNSPECIFIED UNSPECIFIED UNSPECIFIED Huber, Marcel UNSPECIFIED UNSPECIFIED UNSPECIFIED Pich, Christine UNSPECIFIED UNSPECIFIED UNSPECIFIED Hohl, Daniel UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-591437
DOI:	10.1038/s42003-021-02054-9
Journal or Publication Title:	Commun. Biol.
Volume:	4
Number:	1
Date:	2021
Publisher:	NATURE PORTFOLIO
Place of Publication:	BERLIN
ISSN:	2399-3642
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language PRIMARY CILIUM; CILIOGENESIS; PROTEINS; ACTIVATION; SEPTINS; MIDBODY; FAMILY; ROLES; LOCALIZATION; MAINTENANCE Multiple languages Biology; Multidisciplinary Sciences Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/59143