ArticlePigment cell & melanoma research2020
Functional analysis of RPS27 mutations and expression in melanoma.
Article in Pigment cell & melanoma research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- BRAF inhibitor resistance in melanoma: from resistance mechanisms to therapeutic innovations.Molecular biomedicine · 2026Review
- Single-cell multi-omics elucidates the role of RPS27-RPS24 fusion gene in osteosarcoma chemoresistance and metabolic regulation.Cell death discovery · 2025Article
- Exploration of RNA-binding proteins identified RPS27 as a potential regulator associated with Kaposi's sarcoma development.BMC cancer · 2025Article
- Functional analysis of recurrent CDC20 promoter variants in human melanoma.Communications biology · 2023Article
- Defective Human SRP Induces Protein Quality Control and Triggers Stress Response.Journal of molecular biology · 2022Article
- Identifying Lung Cancer Cell Markers with Machine Learning Methods and Single-Cell RNA-Seq Data.Life (Basel, Switzerland) · 2021Article
- Overexpressed MPS-1 contributes to endometrioma development through the NF-κB signaling pathway.Reproductive biology and endocrinology : RB&E · 2021Article
- Quantitative Proteomic Analysis of Plasma Exosomes to Identify the Candidate Biomarker of Imatinib Resistance in Chronic Myeloid Leukemia Patients.Frontiers in oncology · 2021Article
- Bioinformatics Analysis Reveals the Potential Diagnostic Biomarkers for Abdominal Aortic Aneurysm.Frontiers in cardiovascular medicine · 2021Article
- An integrated approach to identify bimodal genes associated with prognosis in câncer.Genetics and molecular biology · 2021Article
- Profile of Basal Cell Carcinoma Mutations and Copy Number Alterations - Focus on Gene-Associated Noncoding Variants.Frontiers in oncology · 2021Article
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
Abstract
Next-generation sequencing has enabled genetic and genomic characterization of melanoma to an unprecedent depth. However, the high mutational background plus the limited depth of coverage of whole-genome sequencing performed on cutaneous melanoma samples make the identification of novel driver mutations difficult. We sought to explore the somatic mutation portfolio in exonic and gene regulatory regions in human melanoma samples, for which we performed targeted sequencing of tumors and matched germline DNA samples from 89 melanoma patients, identifying known and novel recurrent mutations. Two recurrent mutations found in the RPS27 promoter associated with decreased RPS27 mRNA levels in vitro. Data mining and IHC analyses revealed a bimodal pattern of RPS27 expression in melanoma, with RPS27-low patients displaying worse prognosis. In vitro characterization of RPS27-high and RPS27-low melanoma cell lines, as well as loss-of-function experiments, demonstrated that high RPS27 status provides increased proliferative and invasive capacities, while low RPS27 confers survival advantage in low attachment and resistance to therapy. Additionally, we demonstrate that 10 other cancer types harbor bimodal RPS27 expression, and in those, similarly to melanoma, RPS27-low expression associates with worse clinical outcomes. RPS27 promoter mutation could thus represent a mechanism of gene expression modulation in melanoma patients, which may have prognostic and predictive implications.
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