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Extensive sequence-influenced DNA methylation polymorphism in the human genome

机译：人类基因组中广泛的受序列影响的DNA甲基化多态性

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Background Epigenetic polymorphisms are a potential source of human diversity, but their frequency and relationship to genetic polymorphisms are unclear. DNA methylation, an epigenetic mark that is a covalent modification of the DNA itself, plays an important role in the regulation of gene expression. Most studies of DNA methylation in mammalian cells have focused on CpG methylation present in CpG islands (areas of concentrated CpGs often found near promoters), but there are also interesting patterns of CpG methylation found outside of CpG islands. Results We compared DNA methylation patterns on both alleles between many pairs (and larger groups) of related and unrelated individuals. Direct observation and simulation experiments revealed that around 10% of common single nucleotide polymorphisms (SNPs) reside in regions with differences in the propensity for local DNA methylation between the two alleles. We further showed that for the most common form of SNP, a polymorphism at a CpG dinucleotide, the presence of the CpG at the SNP positively affected local DNA methylation in cis. Conclusions Taken together with the known effect of DNA methylation on mutation rate, our results suggest an interesting interdependence between genetics and epigenetics underlying diversity in the human genome.
机译：背景技术表观遗传多态性是人类多样性的潜在来源，但其频率和与遗传多态性的关系尚不清楚。 DNA甲基化是一种表观遗传标记，是DNA本身的共价修饰，在调节基因表达中起着重要作用。哺乳动物细胞中DNA甲基化的大多数研究都集中在CpG岛（经常在启动子附近发现浓缩CpG的区域）中存在的CpG甲基化，但是在CpG岛之外也发现了有趣的CpG甲基化模式。结果我们比较了多对（和较大的一组）相关和不相关个体之间两个等位基因的DNA甲基化模式。直接观察和模拟实验表明，大约10％的常见单核苷酸多态性（SNP）位于两个等位基因之间局部DNA甲基化倾向不同的区域。我们进一步表明，对于最常见的SNP形式，CpG二核苷酸处的多态性，SNP处CpG的存在对顺式局部DNA甲基化有积极影响。结论结合DNA甲基化对突变率的已知影响，我们的结果表明人类基因组多样性背后的遗传学与表观遗传学之间存在有趣的相互依存关系。

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