用于分子诊断决策的电子剪接工具评估
Evaluation of in silico splice tools for decision-making in molecular diagnosis.
作者信息
Houdayer Claude, Dehainault Catherine, Mattler Christophe, Michaux Dorothée, Caux-Moncoutier Virginie, Pagès-Berhouet Sabine, d'Enghien Catherine Dubois, Laugé Anthony, Castera Laurent, Gauthier-Villars Marion, Stoppa-Lyonnet Dominique
机构信息
Institut Curie, Service de Génétique Oncologique, Paris, France.
出版信息
Hum Mutat. 2008 Jul;29(7):975-82. doi: 10.1002/humu.20765.
It appears that all types of genomic nucleotide variations can be deleterious by affecting normal pre-mRNA splicing via disruption/creation of splice site consensus sequences. As it is neither pertinent nor realistic to perform functional testing for all of these variants, it is important to identify those that could lead to a splice defect in order to restrict transcript analyses to the most appropriate cases. Web-based tools designed to provide such predictions are available. We evaluated the performance of six of these tools (Splice Site Prediction by Neural Network [NNSplice], Splice-Site Finder [SSF], MaxEntScan [MES], Automated Splice-Site Analyses [ASSA], Exonic Splicing Enhancer [ESE] Finder, and Relative Enhancer and Silencer Classification by Unanimous Enrichment [RESCUE]-ESE) using 39 unrelated retinoblastoma patients carrying different RB1 variants (31 intronic and eight exonic). These 39 patients were screened for abnormal splicing using puromycin-treated cell lines and the results were compared to the predictions. As expected, 17 variants impacting canonical AG/GT splice sites were correctly predicted as deleterious. A total of 22 variations occurring at loosely defined positions (+/-60 nucleotides from an AG/GT site) led to a splice defect in 19 cases and 16 of them were classified as deleterious by at least one tool (84% sensitivity). In other words, three variants escaped in silico detection and the remaining three were correctly predicted as neutral. Overall our results suggest that a combination of complementary in silico tools is necessary to guide molecular geneticists (balance between the time and cost required by RNA analysis and the risk of missing a deleterious mutation) because the weaknesses of one in silico tool may be overcome by the results of another tool.
似乎所有类型的基因组核苷酸变异都可能通过破坏/创建剪接位点共有序列来影响正常的前体mRNA剪接,从而具有有害性。由于对所有这些变异进行功能测试既不相关也不现实,因此识别那些可能导致剪接缺陷的变异很重要,以便将转录本分析限制在最合适的病例中。有基于网络的工具可用于提供此类预测。我们使用39名携带不同RB1变异(31个内含子变异和8个外显子变异)的无关视网膜母细胞瘤患者,评估了其中六种工具(神经网络剪接位点预测[NNSplice]、剪接位点查找器[SSF]、最大熵扫描[MES]、自动剪接位点分析[ASSA]、外显子剪接增强子[ESE]查找器以及通过一致富集进行的相对增强子和沉默子分类[RESCUE]-ESE)的性能。使用嘌呤霉素处理的细胞系对这39名患者进行异常剪接筛查,并将结果与预测结果进行比较。正如预期的那样,17个影响典型AG/GT剪接位点的变异被正确预测为有害。总共22个发生在宽松定义位置(距AG/GT位点+/-60个核苷酸)的变异在19例中导致了剪接缺陷,其中16个被至少一种工具分类为有害(敏感性为84%)。换句话说,三个变异在计算机模拟检测中未被发现,其余三个被正确预测为中性。总体而言,我们的结果表明,需要结合互补的计算机模拟工具来指导分子遗传学家(平衡RNA分析所需的时间和成本与错过有害突变的风险),因为一种计算机模拟工具的弱点可能会被另一种工具的结果所克服。