Grupo de Bio-Quimioinformática, Universidad de Las Américas, Quito 170125, Ecuador.
Carrera de Enfermería, Facultad de Ciencias de la Salud, Universidad de Las Américas, Quito 170125, Ecuador.
Int J Mol Sci. 2020 Feb 5;21(3):1053. doi: 10.3390/ijms21031053.
Osteosarcoma is the most common subtype of primary bone cancer, affecting mostly adolescents. In recent years, several studies have focused on elucidating the molecular mechanisms of this sarcoma; however, its molecular etiology has still not been determined with precision. Therefore, we applied a consensus strategy with the use of several bioinformatics tools to prioritize genes involved in its pathogenesis. Subsequently, we assessed the physical interactions of the previously selected genes and applied a communality analysis to this protein-protein interaction network. The consensus strategy prioritized a total list of 553 genes. Our enrichment analysis validates several studies that describe the signaling pathways PI3K/AKT and MAPK/ERK as pathogenic. The gene ontology described TP53 as a principal signal transducer that chiefly mediates processes associated with cell cycle and DNA damage response It is interesting to note that the communality analysis clusters several members involved in metastasis events, such as and , and genes associated with DNA repair complexes, like , , , and . In this study, we have identified well-known pathogenic genes for osteosarcoma and prioritized genes that need to be further explored.
骨肉瘤是原发性骨癌中最常见的亚型，主要影响青少年。近年来，已有多项研究致力于阐明这种肉瘤的分子机制；然而，其分子病因尚未被准确确定。因此，我们应用了一种共识策略，使用了几种生物信息学工具来优先考虑参与发病机制的基因。随后，我们评估了先前选择基因的物理相互作用，并对该蛋白质-蛋白质相互作用网络应用了共通性分析。共识策略优先考虑了一个总共 553 个基因的列表。我们的富集分析验证了几项描述信号通路 PI3K/AKT 和 MAPK/ERK 作为致病因素的研究。基因本体论将 TP53 描述为主要的信号转导因子，主要介导与细胞周期和 DNA 损伤反应相关的过程。有趣的是，共通性分析将几个涉及转移事件的成员聚类在一起，例如 和 ，以及与 DNA 修复复合物相关的基因，如 、 、 、和 。在这项研究中，我们已经确定了骨肉瘤的一些已知致病基因，并优先考虑了需要进一步探索的基因。
