Armendáriz-Castillo Isaac, Hidalgo-Fernández Katherine, Pérez-Villa Andy, García-Cárdenas Jennyfer M, López-Cortés Andrés, Guerrero Santiago
Latin American Network for the Implementation and Validation of Clinical Pharmacogenomics Guidelines (RELIVAF-CYTED), 28001 Madrid, Spain.
Facultade de Ciencias, Universidade da Coruña, 15071 A Coruña, Spain.
Biology (Basel). 2022 Jan 25;11(2):185. doi: 10.3390/biology11020185.
Alternative lengthening of telomeres-associated promyelocytic leukemia nuclear bodies (APBs) are a hallmark of telomere maintenance. In the last few years, APBs have been described as the main place where telomeric extension occurs in ALT-positive cancer cell lines. A different set of proteins have been associated with APBs function, however, the molecular mechanisms behind their assembly, colocalization, and clustering of telomeres, among others, remain unclear. To improve the understanding of APBs in the ALT pathway, we integrated multiomics analyses to evaluate genomic, transcriptomic and proteomic alterations, and functional interactions of 71 APBs-related genes/proteins in 32 Pan-Cancer Atlas studies from The Cancer Genome Atlas Consortium (TCGA). As a result, we identified 13 key proteins which showed distinctive mutations, interactions, and functional enrichment patterns across all the cancer types and proposed this set of proteins as candidates for future ex vivo and in vivo analyses that will validate these proteins to improve the understanding of the ALT pathway, fill the current research gap about APBs function and their role in ALT, and be considered as potential therapeutic targets for the diagnosis and treatment of ALT-positive cancers in the future.
端粒替代延长相关的早幼粒细胞白血病核体(APBs)是端粒维持的一个标志。在过去几年中,APBs被描述为ALT阳性癌细胞系中端粒延长发生的主要场所。一组不同的蛋白质与APBs功能相关,然而,它们的组装、共定位以及端粒聚集等背后的分子机制仍不清楚。为了更好地理解ALT途径中的APBs,我们整合了多组学分析,以评估来自癌症基因组图谱联盟(TCGA)的32项泛癌图谱研究中71个与APBs相关的基因/蛋白质的基因组、转录组和蛋白质组改变以及功能相互作用。结果,我们鉴定出13种关键蛋白质,它们在所有癌症类型中表现出独特的突变、相互作用和功能富集模式,并提出这组蛋白质作为未来体外和体内分析的候选对象,这些分析将验证这些蛋白质,以增进对ALT途径的理解,填补当前关于APBs功能及其在ALT中的作用的研究空白,并被视为未来诊断和治疗ALT阳性癌症的潜在治疗靶点。