高保守性启动子短序列建模研究

Study on Modelling Promoter Sequence with High Conservation

启动子是调控基因转录表达的核心元件。启动子上的突变会影响启动子的功能活性,从而导致基因表达异常。本研究通过挖掘启动子序列中蕴含的序列特征,提出了一个基于序列模式挖掘的启动子序列打分模型,通过该模型,实现对启动子序列信号强度的定量度量。试验结果表明,该模型可有效区分真、假启动子序列,计算验证试验表明该模型具有良好的鲁棒性,并可用于识别致病启动子序列突变。

Promoter is a type of core regulatory element on gene expression. Mutations in promoter could affect its functional activity, which could cause dysregulation on gene expression, and result in abnormal protein product. In this study, based on the sequential features identified from promoter sequences, we developed a score system for promoter. Through this score system, the signal strength of a promoter could be measured quantitatively. The experi- ment results showed that this model can effectively distinguish between true and false promoter sequences. Compu- tational validation experiment showed that this model had a great robustness. Besides, the model could be used to efficiently identify pathogenic mutation in promoter.