Institut de recherches cliniques de Montréal (IRCM), Montréal, Québec, Canada.
J Proteome Res. 2011 Jan 7;10(1):120-5. doi: 10.1021/pr100609a. Epub 2010 Nov 15.
Genomic approaches such as genome-wide association studies (GWAS), disease genome sequencing projects, and genome-wide expression profiling analyses, in conjunction with classical genetic approaches, can identify human genes that are altered in disease, thereby suggesting a role for the encoded protein (or RNA) in the establishment and/or progression of the disease. However, many technical difficulties challenge our ability to validate the role of these disease-associated genes and gene products. Moreover, many identified genes contain open reading frames (ORFs) that have yet to be annotated, that is, the function (or activity) of the encoded protein is unknown. As a result, translating the genomic information available in public databases into useful tools for understanding and curing disease is a very slow and inefficient process. To overcome these difficulties, we have developed a technology platform, termed the "molecular medicine GPS" (mm-GPS), which is aimed at defining high-quality maps of interaction networks involving disease proteins. These maps are used to identify network dysfunctions in disease cells or models and to develop molecular tools such as RNA interference (RNAi) and small-molecule inhibitors to further characterize the molecular basis of disease. In this article, I review our progress in producing high-quality maps of human protein interaction networks, and I describe how we used this information to identify new factors and pathways that regulate the RNA polymerase II transcription machinery. I also describe how we utilize the mm-GPS platform to guide more efficient efforts leading from disease-associated genes to protein interaction networks to small-molecule inhibitors, and consequently, to accelerate drug and biomarker discovery.
基因组学方法,如全基因组关联研究(GWAS)、疾病基因组测序项目和全基因组表达谱分析,与经典的遗传方法相结合,可以识别疾病中改变的人类基因,从而提示编码蛋白(或 RNA)在疾病的建立和/或进展中的作用。然而,许多技术难题挑战着我们验证这些与疾病相关的基因和基因产物作用的能力。此外,许多已识别的基因包含尚未注释的开放阅读框(ORFs),即编码蛋白的功能(或活性)未知。因此,将公共数据库中可用的基因组信息转化为理解和治疗疾病的有用工具是一个非常缓慢和低效的过程。为了克服这些困难,我们开发了一种名为“分子医学 GPS”(mm-GPS)的技术平台,旨在定义涉及疾病蛋白的高质量互作网络图谱。这些图谱用于识别疾病细胞或模型中的网络功能障碍,并开发 RNA 干扰(RNAi)和小分子抑制剂等分子工具,以进一步阐明疾病的分子基础。在本文中,我回顾了我们在生成人类蛋白质互作网络高质量图谱方面的进展,并描述了我们如何利用这些信息来鉴定调控 RNA 聚合酶 II 转录机制的新因子和途径。我还描述了我们如何利用 mm-GPS 平台指导从与疾病相关的基因到蛋白质互作网络再到小分子抑制剂的更有效的努力,从而加速药物和生物标志物的发现。