ArticleNature medicine2017
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
Article in Nature medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 papers.
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34 citing papers in PubMed, 76 citations in OpenAlex.
- Deciphering the regulatory landscape of enhancer RNAs in health and disease.Signal transduction and targeted therapy · 2026Review
- Genome-wide enhancer RNA profiling adds molecular links between genetic variation and human cancers.Military Medical Research · 2024Article
- Mapping the landscape of HPV integration and characterising virus and host genome interactions in HPV-positive oropharyngeal squamous cell carcinoma.Clinical and translational medicine · 2024Article
- Establishment and evaluation of ectopic and orthotopic prostate cancer models using cell sheet technology.Journal of translational medicine · 2022Article
- Identification of Enhancer RNA CDK6-AS1 as a Potential Novel Prognostic Biomarker in Gastric Cancer.Frontiers in genetics · 2022Article
- Comprehensive transcriptomic analysis of immune-related eRNAs associated with prognosis and immune microenvironment in melanoma.Frontiers in surgery · 2022Article
- Combined RNA/tissue profiling identifies novel Cancer/testis genes.Molecular oncology · 2021Article
- Pili Torti: A Feature of Numerous Congenital and Acquired Conditions.Journal of clinical medicine · 2021Review
- Enhancer RNA m6A methylation facilitates transcriptional condensate formation and gene activation.Molecular cell · 2021Article
- Review
- TBX5-AS1, an enhancer RNA, is a potential novel prognostic biomarker for lung adenocarcinoma.BMC cancer · 2021Article
- ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies.Communications biology · 2021Article
- An integrated analysis of enhancer RNAs in glioma and a validation of their prognostic values.American journal of translational research · 2021Article
- Pathogenic Variants inFrontiers in cell and developmental biology · 2021Article
- A Tumor Suppressor Enhancer ofBlood cancer discovery · 2021Article
- Enhancer RNA LINC00242-Induced Expression of PHF10 Drives a Better Prognosis in Pancreatic Adenocarcinoma.Frontiers in oncology · 2021Article
- Update in the Management of Basal Cell Carcinoma.Acta dermato-venereologica · 2020Review
- Review
- Gli promotes tumor progression through regulating epithelial-mesenchymal transition in non-small-cell lung cancer.Journal of cardiothoracic surgery · 2020Article
- CRISPR-Cas13a Targeting the Enhancer RNA-SMAD7e Inhibits Bladder Cancer Development BothFrontiers in molecular biosciences · 2020Article
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
37 authors at 16 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Basal cell carcinoma (BCC), the most common human cancer, results from aberrant activation of the Hedgehog signaling pathway. Although most cases of BCC are sporadic, some forms are inherited, such as Bazex-Dupré-Christol syndrome (BDCS)-a cancer-prone genodermatosis with an X-linked, dominant inheritance pattern. We have identified mutations in the ACTRT1 gene, which encodes actin-related protein T1 (ARP-T1), in two of the six families with BDCS that were examined in this study. High-throughput sequencing in the four remaining families identified germline mutations in noncoding sequences surrounding ACTRT1. These mutations were located in transcribed sequences encoding enhancer RNAs (eRNAs) and were shown to impair enhancer activity and ACTRT1 expression. ARP-T1 was found to directly bind to the GLI1 promoter, thus inhibiting GLI1 expression, and loss of ARP-T1 led to activation of the Hedgehog pathway in individuals with BDCS. Moreover, exogenous expression of ACTRT1 reduced the in vitro and in vivo proliferation rates of cell lines with aberrant activation of the Hedgehog signaling pathway. In summary, our study identifies a disease mechanism in BCC involving mutations in regulatory noncoding elements and uncovers the tumor-suppressor properties of ACTRT1.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.