Department of Experimental and Clinical Medicine, University of Florence, Viale GB Morgagni 50, 50134 Florence, Italy.
Department of Life Sciences and Systems Biology, University of Torino, Via Accademia Albertina 13, 10123 Torino, Italy.
Int J Mol Sci. 2022 Jun 21;23(13):6898. doi: 10.3390/ijms23136898.
Melanoma is a relatively rare disease worldwide; nevertheless, it has a great relevance in some countries, such as in Europe. In order to shed some light upon the transcriptional profile of skin melanoma, we compared the gene expression of six independent tumours (all progressed towards metastatic disease and with wild type ) to the expression profile of non-dysplastic melanocytes (considered as a healthy control) in a pilot study. Paraffin-embedded samples were manually micro-dissected to obtain enriched samples, and then, RNA was extracted and analysed through a microarray-based approach. An exhaustive bioinformatics analysis was performed to identify differentially expressed transcripts between the two groups, as well as enriched functional terms. Overall, 50 up- and 19 downregulated transcripts were found to be significantly changed in the tumour compared to the control tissue. Among the upregulated transcripts, the majority belonged to the immune response group and to the proteasome, while most of the downregulated genes were related to cytosolic ribosomes. A Gene Set Enrichment Analysis (GSEA), along with the RNA-Seq data retrieved from the TCGA/GTEx databases, confirmed the general trend of downregulation affecting cytoribosome proteins. In contrast, transcripts coding for mitoribosome proteins showed the opposite trend.
黑色素瘤在全球范围内是一种相对罕见的疾病；然而，在一些国家，如欧洲，它具有重要的意义。为了阐明皮肤黑色素瘤的转录谱，我们在一项初步研究中比较了六个独立肿瘤（均进展为转移性疾病且为野生型）与非异型性黑素细胞（被认为是健康对照）的基因表达。通过手动微切割对石蜡包埋样本进行微区分析，以获得富集样本，然后提取 RNA 并通过基于微阵列的方法进行分析。我们进行了全面的生物信息学分析，以确定两组之间差异表达的转录本以及富集的功能术语。总的来说，与对照组织相比，肿瘤中有 50 个上调和 19 个下调的转录本被发现有明显变化。在上调的转录本中，大多数属于免疫反应组和蛋白酶体，而大多数下调的基因与细胞质核糖体有关。基因集富集分析（GSEA）以及从 TCGA/GTEx 数据库中检索到的 RNA-Seq 数据证实了影响细胞核糖体蛋白下调的总体趋势。相比之下，编码线粒体核糖体蛋白的转录本则呈现相反的趋势。
