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

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 rec...

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Autores principales: Park, Hyun-Sook, Papanastasi, Eirini, Blanchard, Gabriela, Chiticariu, Elena, Bachmann, Daniel, Plomann, Markus, Morice-Picard, Fanny, Vabres, Pierre, Smahi, Asma, Huber, Marcel, Pich, Christine, Hohl, Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
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Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110579/
https://www.ncbi.nlm.nih.gov/pubmed/33972689
http://dx.doi.org/10.1038/s42003-021-02054-9
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author Park, Hyun-Sook
Papanastasi, Eirini
Blanchard, Gabriela
Chiticariu, Elena
Bachmann, Daniel
Plomann, Markus
Morice-Picard, Fanny
Vabres, Pierre
Smahi, Asma
Huber, Marcel
Pich, Christine
Hohl, Daniel
author_facet Park, Hyun-Sook
Papanastasi, Eirini
Blanchard, Gabriela
Chiticariu, Elena
Bachmann, Daniel
Plomann, Markus
Morice-Picard, Fanny
Vabres, Pierre
Smahi, Asma
Huber, Marcel
Pich, Christine
Hohl, Daniel
author_sort Park, Hyun-Sook
collection PubMed
description 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.
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spelling pubmed-81105792021-05-11 ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies Park, Hyun-Sook Papanastasi, Eirini Blanchard, Gabriela Chiticariu, Elena Bachmann, Daniel Plomann, Markus Morice-Picard, Fanny Vabres, Pierre Smahi, Asma Huber, Marcel Pich, Christine Hohl, Daniel Commun Biol Article 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. Nature Publishing Group UK 2021-05-10 /pmc/articles/PMC8110579/ /pubmed/33972689 http://dx.doi.org/10.1038/s42003-021-02054-9 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Article
Park, Hyun-Sook
Papanastasi, Eirini
Blanchard, Gabriela
Chiticariu, Elena
Bachmann, Daniel
Plomann, Markus
Morice-Picard, Fanny
Vabres, Pierre
Smahi, Asma
Huber, Marcel
Pich, Christine
Hohl, Daniel
ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies
title ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies
title_full ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies
title_fullStr ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies
title_full_unstemmed ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies
title_short ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies
title_sort arp-t1-associated bazex–dupré–christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110579/
https://www.ncbi.nlm.nih.gov/pubmed/33972689
http://dx.doi.org/10.1038/s42003-021-02054-9
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