CpG islands undermethylation in human genomic regions under selective pressure.

CpG islands undermethylation in human genomic regions under selective pressure.
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DOI:
10.1371/journal.pone.0023156
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发表时间:
2011
期刊:
影响因子:
3.7
通讯作者:
Monticelli A
Monticelli A
中科院分区:
综合性期刊3区
文献类型:
--
作者:
Cocozza S;Akhtar MM;Miele G;Monticelli A

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CpG岛(CGIs)的DNA甲基化是表观遗传学研究最多的机制之一。它是细胞分化和转录潜能控制的基础。DNA甲基化也参与了几个对进化生物学至关重要的过程,包括表型可塑性和进化性。在这项研究中,我们探讨了CpG岛甲基化和选择压力的签名之间的关系,在智人,使用计算生物学的方法。通过分析来自Encyclopedia of DNA Elements(ENCODE)Consortium的25个细胞系的甲基化数据,我们比较了在选择压力下基因组区域中CpG岛的DNA甲基化与基因组其余部分中CpG岛的甲基化。为了在选择压力下定义基因组区域,我们使用了三种不同的方法,每种方法都旨在提供关于选择事件的不同信息。独立的方法和所使用的细胞类型,我们发现在选择压力下的人类基因组区域的CGIs甲基化不足的证据。此外,通过分析CpG岛的SNP频率,我们证明了在选择压力下的区域中的CpG岛显示出较低的遗传变异。我们的研究结果表明,与基因组的其他区域相比,在选择压力下的区域中的CpG岛似乎在某种程度上更“保护”甲基化。
DNA methylation at CpG islands (CGIs) is one of the most intensively studied epigenetic mechanisms. It is fundamental for cellular differentiation and control of transcriptional potential. DNA methylation is involved also in several processes that are central to evolutionary biology, including phenotypic plasticity and evolvability. In this study, we explored the relationship between CpG islands methylation and signatures of selective pressure in Homo Sapiens, using a computational biology approach. By analyzing methylation data of 25 cell lines from the Encyclopedia of DNA Elements (ENCODE) Consortium, we compared the DNA methylation of CpG islands in genomic regions under selective pressure with the methylation of CpG islands in the remaining part of the genome. To define genomic regions under selective pressure, we used three different methods, each oriented to provide distinct information about selective events. Independently of the method and of the cell type used, we found evidences of undermethylation of CGIs in human genomic regions under selective pressure. Additionally, by analyzing SNP frequency in CpG islands, we demonstrated that CpG islands in regions under selective pressure show lower genetic variation. Our findings suggest that the CpG islands in regions under selective pressure seem to be somehow more “protected” from methylation when compared with other regions of the genome.
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