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基因表达过程主要包括转录、剪接和翻译,多种调控元件参与其中,是个高度调控的过程。建模识别分析这些调控元件,对理解基因表达具有重要意义。本研究提出了一个基于移动序列模式的短序列建模模型,并对转录启动子和剪接调控元件进行了建模分析。启动子是基因转录的核心调控元件,剪接调控元件参与调控剪接位点的识别。分类实验结果表明,该模型可有效识别转录启动子序列和剪接调控元件序列。并进一步利用该模型,建模分析已为生物实验验证的、会导致剪接影响的基因组变异,实验结果表明,该模型可有效预测基因组变异的剪接影响,进一步验证了该模型的有效性。
Abstract：Gene expression mainly includes transcription, splicing and translation, where many different types of regulatory elements involved. Gene expression is a highly regulated process. Modeling and characterizing these regulatory elements can be helpful for understanding how gene expression is regulated. In this report, a short sequence model based on shift sequence pattern is proposed, and further applied to model and analyze transcription promoters and splicing regulatory elements. Promoter is the core regulatory element for gene transcription, and the splicing regulatory elements play important role for splicing site recognition. The results of classification experiments show that the model is able to effectively identify the promoter sequences and splicing regulatory element sequences. And further validate the model using genomic variants with known splicing effect which has been verified with biological experiments. The experimental results show that the model can effectively predict the splicing effect of genome mutation, which shows the validity of the model.
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基本信息:
DOI：10.13417/j.gab.037.004253
中图分类号:Q75
引用信息:
[1]施梦军,赵海峰,陈虹,等.基于移动序列模式分析人基因组调控短序列[J].基因组学与应用生物学,2018,37(10):4253-4259.DOI:10.13417/j.gab.037.004253.
基金信息:
国家自然基金(No.61300057; No.81000321);; 安徽省教育厅重点项目(KJ2016A040; KJ2013A007)共同资助
2017-12-26
2017-12-26
2017-12-26