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首页> 美国卫生研究院文献>Epigenetics >Placental 5-methylcytosine and 5-hydroxymethylcytosine patterns associate with size at birth
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Placental 5-methylcytosine and 5-hydroxymethylcytosine patterns associate with size at birth

机译：胎盘5-甲基胞嘧啶和5-羟甲基胞嘧啶的分布与出生时的大小有关

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Altered placental function as a consequence of aberrant imprinted gene expression may be one mechanism mediating the association between low birth weight and increased cardiometabolic disease risk. Imprinted gene expression is regulated by epigenetic mechanisms, particularly DNA methylation (5mC) at differentially methylated regions (DMRs). While 5-hydroxymethylcytosine (5hmC) is also present at DMRs, many techniques do not distinguish between 5mC and 5hmC. Using human placental samples, we show that the expression of the imprinted gene CDKN1C associates with birth weight. Using specific techniques to map 5mC and 5hmC at DMRs controlling the expression of CDKN1C and the imprinted gene IGF2, we show that 5mC enrichment at KvDMR and DMR0, and 5hmC enrichment within the H19 gene body, associate positively with birth weight. Importantly, the presence of 5hmC at imprinted DMRs may complicate the interpretation of DNA methylation studies in placenta; future studies should consider using techniques that distinguish between, and permit quantification of, both modifications.
机译：由于基因印迹异常而导致的胎盘功能改变可能是介导低出生体重与增加的心脏代谢疾病风险之间关联的一种机制。印迹基因的表达受表观遗传机制的调节，尤其是在甲基化差异区域（DMR）处的DNA甲基化（5mC）。虽然DMR上也存在5-羟甲基胞嘧啶（5hmC），但许多技术无法区分5mC和5hmC。使用人类的胎盘样本，我们表明印迹基因CDKN1C的表达与出生体重有关。使用特定的技术在控制CDKN1C和印迹基因IGF2表达的DMR处定位5mC和5hmC，我们显示KvDMR和DMR0的5mC富集以及H19基因体内的5hmC富集与出生体重呈正相关。重要的是，印迹的DMR处5hmC的存在可能会使胎盘中DNA甲基化研究的解释复杂化。未来的研究应考虑使用区分和修饰这两种修饰的技术。

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