Section of Genetic Medicine and Center for Biomedical Informatics, Department of Medicine, The University of Chicago, Chicago, Illinois, United States of America.
PLoS Comput Biol. 2010 Apr 1;6(4):e1000730. doi: 10.1371/journal.pcbi.1000730.
Due to the large number of putative microRNA gene targets predicted by sequence-alignment databases and the relative low accuracy of such predictions which are conducted independently of biological context by design, systematic experimental identification and validation of every functional microRNA target is currently challenging. Consequently, biological studies have yet to identify, on a genome scale, key regulatory networks perturbed by altered microRNA functions in the context of cancer. In this report, we demonstrate for the first time how phenotypic knowledge of inheritable cancer traits and of risk factor loci can be utilized jointly with gene expression analysis to efficiently prioritize deregulated microRNAs for biological characterization. Using this approach we characterize miR-204 as a tumor suppressor microRNA and uncover previously unknown connections between microRNA regulation, network topology, and expression dynamics. Specifically, we validate 18 gene targets of miR-204 that show elevated mRNA expression and are enriched in biological processes associated with tumor progression in squamous cell carcinoma of the head and neck (HNSCC). We further demonstrate the enrichment of bottleneckness, a key molecular network topology, among miR-204 gene targets. Restoration of miR-204 function in HNSCC cell lines inhibits the expression of its functionally related gene targets, leads to the reduced adhesion, migration and invasion in vitro and attenuates experimental lung metastasis in vivo. As importantly, our investigation also provides experimental evidence linking the function of microRNAs that are located in the cancer-associated genomic regions (CAGRs) to the observed predisposition to human cancers. Specifically, we show miR-204 may serve as a tumor suppressor gene at the 9q21.1-22.3 CAGR locus, a well established risk factor locus in head and neck cancers for which tumor suppressor genes have not been identified. This new strategy that integrates expression profiling, genetics and novel computational biology approaches provides for improved efficiency in characterization and modeling of microRNA functions in cancer as compared to the state of art and is applicable to the investigation of microRNA functions in other biological processes and diseases.
由于通过序列比对数据库预测的假定 microRNA 基因靶标数量众多,并且由于设计上独立于生物学背景进行此类预测的相对准确性较低,因此系统地实验鉴定和验证每个功能性 microRNA 靶标目前具有挑战性。因此,生物学研究尚未在基因组范围内识别出癌症中改变的 microRNA 功能所扰乱的关键调控网络。在本报告中,我们首次展示了如何将遗传性癌症特征和风险因素基因座的表型知识与基因表达分析结合使用,以有效地优先考虑受调控的 microRNA 进行生物学特征分析。使用这种方法,我们将 miR-204 鉴定为一种肿瘤抑制 microRNA,并揭示了 microRNA 调控、网络拓扑和表达动态之间以前未知的联系。具体来说,我们验证了 miR-204 的 18 个基因靶标,这些靶标显示出 mRNA 表达升高,并在头颈部鳞状细胞癌 (HNSCC) 中与肿瘤进展相关的生物学过程中富集。我们进一步证明了 miR-204 基因靶标中存在瓶颈现象,瓶颈是一种关键的分子网络拓扑。在 HNSCC 细胞系中恢复 miR-204 功能可抑制其功能相关基因靶标的表达,导致体外黏附、迁移和侵袭减少,并减弱体内实验性肺转移。同样重要的是,我们的研究还提供了实验证据,将位于癌症相关基因组区域 (CAGRs) 中的 microRNAs 的功能与观察到的人类癌症易感性联系起来。具体来说,我们表明 miR-204 可能作为 9q21.1-22.3 CAGR 基因座的肿瘤抑制基因发挥作用,该基因座是头颈癌中已确立的风险因素基因座,但尚未鉴定出肿瘤抑制基因。与现有技术相比,这种整合表达谱、遗传学和新型计算生物学方法的新策略可提高癌症中 microRNA 功能的表征和建模效率,并且适用于研究其他生物学过程和疾病中的 microRNA 功能。