Sharma Ankush, Capobianco Enrico
Department of Biosciences, University of Oslo, 0315 Oslo, Norway.
Department of Bioinformatics, University of Oslo, 0315 Oslo, Norway.
J Clin Med. 2022 Apr 9;11(8):2103. doi: 10.3390/jcm11082103.
Despite the power of high-throughput genomics, most non-coding RNA (ncRNA) biotypes remain hard to identify, characterize, and validate. This is a clear indication that intensive next-generation sequencing research has led to great efficiency and accuracy in detecting ncRNAs, but not in their functionalization. Computational scientists continue to support the discovery process by spotting significant data features (expression or mutational profiles), elucidating phenotype uncertainty, and delineating complex regulation landscapes for biological pathways and pathophysiological processes. With reference to transcriptome regulation dynamics in cancer, this work introduces a novel network-driven inference approach designed to reveal the potential role of computationally identified ncRNAs in discriminating between breast cancer (BC) subtypes beyond the traditional gene expression signatures. As heterogeneity cast in the subtypes is a characteristic of most cancers, the proposed approach is generalizable beyond BC. Expression profiles of a wide transcriptome spectrum were obtained for a number of BC patients (and controls) listed in TCGA and processed with RNA-Seq. The well-known PAM50 subtype signature was available for the samples and used to move from differentially expressed transcript profiles to subtype-specific biclusters associating gene patterns with patients. Co-expressed gene networks were then generated and annotations were provided, focusing on the biclusters with basal and luminal signatures. These were used to build template maps, i.e., networks in which to embed the ncRNAs and contextually functionalize them based on their interactors. This inference approach is able to assess the influence of ncRNAs at the level of BC subtype. Network topology was considered through the brokerage measure to account for disruptiveness effects induced by the removal of nodes corresponding to ncRNAs. Equivalently, it is shown that ncRNAs can act as brokers of network interactome dynamics, and removing them allows the refinement of subtype-related characteristics previously obtained by gene signatures only. The results of the study elucidate the role of pseudogenes in two major BC subtypes, considering the contextual annotations. Put into a wider perspective, ncRNA brokers may help predictive functionalization studies targeted to new disease phenotypes, for instance those linked to the tumor microenvironment or metabolism, or those specifically involving metastasis. Overall, the approach may represent an in silico prioritization strategy toward the systems identification of new diagnostic and prognostic biomarkers.
尽管高通量基因组学具有强大功能,但大多数非编码RNA(ncRNA)生物类型仍难以识别、表征和验证。这清楚地表明,深入的下一代测序研究在检测ncRNAs方面已带来了很高的效率和准确性,但在其功能化方面却并非如此。计算科学家们继续通过发现重要的数据特征(表达或突变谱)、阐明表型不确定性以及描绘生物途径和病理生理过程的复杂调控格局来支持发现过程。关于癌症中的转录组调控动态,这项工作引入了一种新颖的网络驱动推理方法,旨在揭示通过计算识别出的ncRNAs在区分乳腺癌(BC)亚型方面超越传统基因表达特征的潜在作用。由于亚型中的异质性是大多数癌症的一个特征,所提出的方法可推广到BC以外的癌症。我们获取了TCGA中列出的许多BC患者(和对照)的广泛转录组谱表达数据,并通过RNA-Seq进行处理。样本具有著名的PAM50亚型特征,用于从差异表达的转录谱转移到将基因模式与患者相关联的亚型特异性双聚类。然后生成共表达基因网络并提供注释,重点关注具有基底和腔特征的双聚类。这些用于构建模板图谱,即嵌入ncRNAs并根据其相互作用者对其进行上下文功能化的网络。这种推理方法能够评估ncRNAs在BC亚型水平上的影响。通过中介度量考虑网络拓扑结构,以解释去除与ncRNAs对应的节点所引起的破坏效应。同样,研究表明ncRNAs可以作为网络相互作用组动态的中介,去除它们可以细化先前仅通过基因特征获得的亚型相关特征。考虑到上下文注释,研究结果阐明了假基因在两种主要BC亚型中的作用。从更广泛的角度来看,ncRNA中介可能有助于针对新疾病表型的预测功能化研究,例如那些与肿瘤微环境或代谢相关的表型,或那些特别涉及转移的表型。总体而言,该方法可能代表了一种针对新诊断和预后生物标志物系统识别的计算机优先排序策略。