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Features of Methylation and Gene Expression in the Promoter-Associated CpG Islands Using Human Methylome Data

机译:启动子相关的CpG岛的甲基化和基因表达的特征使用人类甲基化组数据。

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CpG islands are typically located in the 5′ end of genes and considered as gene markers because they play important roles in gene regulation via epigenetic change. In this study, we compared the features of CpG islands identified by several major algorithms by setting the parameter cutoff values in order to obtain a similar number of CpG islands in a genome. This approach allows us to systematically compare the methylation and gene expression patterns in the identified CpG islands. We found that Takai and Jones’ algorithm tends to identify longer CpG islands but with weaker CpG island features (e.g., lower GC content and lower ratio of the observed over expected CpGs) and higher methylation level. Conversely, the CpG clusters identified by Hackenberg et al.’s algorithm using stringent criteria are shorter and have stronger features and lower methylation level. In addition, we used the genome-wide base-resolution methylation profile in two cell lines to show that genes with a lower methylation level at the promoter-associated CpG islands tend to express in more tissues and have stronger expression. Our results validated that the DNA methylation of promoter-associated CpG islands suppresses gene expression at the genome level.
机译:CpG岛通常位于基因的5'端并被视为基因标记,因为它们在通过表观遗传变化的基因调控中起着重要作用。在这项研究中,我们通过设置参数截止值来比较由几种主要算法识别的CpG岛的特征,以便在基因组中获得相似数量的CpG岛。这种方法使我们能够系统地比较已识别的CpG岛中的甲基化和基因表达模式。我们发现,Takai和Jones的算法倾向于识别更长的CpG岛,但具有较弱的CpG岛特征(例如,较低的GC含量和较低的观测值与预期CpGs的比率)和较高的甲基化水平。相反,Hackenberg等人的算法使用严格的标准识别出的CpG簇较短,并且具有更强的特征和更低的甲基化水平。此外,我们在两个细胞系中使用了全基因组的基本分辨率甲基化配置文件,显示在启动子相关的CpG岛上甲基化水平较低的基因倾向于在更多的组织中表达,并具有更强的表达。我们的结果验证了与启动子相关的CpG岛的DNA甲基化抑制了基因组水平的基因表达。

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