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ARP-T1 相关的巴氏综合征-克里斯托综合征是一种遗传性基底细胞癌，具有纤毛缺陷的特征，属于纤毛病。

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

机构信息

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

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

出版信息

Commun Biol. 2021 May 10;4(1):544. doi: 10.1038/s42003-021-02054-9.

DOI:10.1038/s42003-021-02054-9
PMID:33972689
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8110579/
Abstract

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.

摘要

肌动蛋白相关蛋白-睾丸 1 (ARP-T1)/ACTRT1 基因突变导致 Bazex-Dupré-Christol 综合征 (BDCS)，其特征为毛囊萎缩、毛发稀疏和基底细胞癌。在这里，我们报告了一个 ARP-T1 相互作用组 (PXD016557)，其中包括参与纤毛发生、内体再循环和隔膜环形成的蛋白质。因此，ARP-T1 在有丝分裂期间定位于中间体的中体和间期中的初级纤毛的基体。来自与 ARP-T1 相关的 BDCS 患者的组织样本显示纤毛长度缩短。缩短的纤毛的严重程度与 ARP-T1 水平显著相关，这通过在培养细胞中敲低 ACTRT1 进一步得到验证。因此，我们提出 ARP-T1 参与纤毛长度的调节，并且与 ARP-T1 相关的 BDCS 是具有纤毛病特征的皮肤癌病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eeed/8110579/646d0d8c4a9f/42003_2021_2054_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eeed/8110579/36a25f976d58/42003_2021_2054_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eeed/8110579/e2ac081f2cef/42003_2021_2054_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eeed/8110579/646d0d8c4a9f/42003_2021_2054_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eeed/8110579/36a25f976d58/42003_2021_2054_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eeed/8110579/e2ac081f2cef/42003_2021_2054_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eeed/8110579/646d0d8c4a9f/42003_2021_2054_Fig4_HTML.jpg

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