血清反应因子结合位点在小鼠及人基因组中保守性、多样性及进化的研究

摘要

目的:CArG元件因其为血清反应因子识别的结合位点近年来备受关注.然而迄今为止尚未见到有关CArG元件的序列特征及进化模式的研究.方法:本研究应用生物信息学方法结合遗传学方法对小鼠及人基因组中CArG元件的位置分布序列类型、多样性及保守性进行深入研究.结果:多样性研究结果显示,CArG元件的序列在小鼠及人类基因组存在大量的不同类型.但是,小鼠和人基因组中CArG元件的主要类型又存在明显差异.同源性分析结果表明人类和小鼠中的CArG元件存在两种进化历程,一部分CArG元件拥有共同的祖先,一部分是在物种分化以后突变产生的.结论:上述研究结果将为更为深入阐述SRF的调控模式奠定理论基础,同时为更清楚的阐释CArG元件序列变化对下游基因的表达影响提供理论支持.%Objective: CArG cis-elements, short DNA consensus sequences that binding by serum response factors, are presently being intensively studied, but little is known about the sequence type and the evolutionary pattern of functional CArG elements. Methods: The present study was performed a genome-scale diversity and evolutionary analysis of the CArG element in the mammalian genome. Results :Diversity analysis showed that the sequences type of CArG element were significantly diverse in both human and mouse genomes. The main sequence types of CArG element were not entirely similar in the two genomes. Orthologous analysis indicated that functionally important CArG elements probably evolved from two different origins. Conclusion: The results presented here will fundamentally improve future CArG elements prediction, regulatory determinant pattern detection and analysis of SRF-dependent gene expression.