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对胎儿组织的 DNA 甲基化分析显示，绒毛膜和羊膜样本之间存在明显的表观遗传差异。

DNA-methylation profiling of fetal tissues reveals marked epigenetic differences between chorionic and amniotic samples.

机构信息

Department of Gynecology & Obstetrics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Kiel, Germany.

出版信息

PLoS One. 2012;7(6):e39014. doi: 10.1371/journal.pone.0039014. Epub 2012 Jun 19.

DOI:10.1371/journal.pone.0039014
PMID:22723920
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3378600/
Abstract

Epigenetic mechanisms including DNA methylation are supposed to play a key role in fetal development. Here we have investigated fetal DNA-methylation levels of 27,578 CpG loci in 47 chorionic villi (CVS) and 16 amniotic cell (AC) samples. Methylation levels differed significantly between karyotypically normal AC and CVS for 2,014 genes. AC showed more extreme DNA-methylation levels of these genes than CVS and the differentially methylated genes are significantly enriched for processes characteristic for the different cell types sampled. Furthermore, we identified 404 genes differentially methylated in CVS with trisomy 21. These genes were significantly enriched for high CG dinucleotid (CpG) content and developmental processes associated with Down syndrome. Our study points to major tissue-specific differences of fetal DNA-methylation and gives rise to the hypothesis that part of the Down syndrome phenotype is epigenetically programmed in the first trimester of pregnancy.

摘要

表观遗传机制，包括 DNA 甲基化，被认为在胎儿发育中起着关键作用。在这里，我们研究了 47 个绒毛膜绒毛（CVS）和 16 个羊水细胞（AC）样本中的 27578 个 CpG 位点的胎儿 DNA 甲基化水平。在核型正常的 AC 和 CVS 之间，有 2014 个基因的甲基化水平存在显著差异。AC 显示出比 CVS 更为极端的这些基因的 DNA 甲基化水平，差异甲基化的基因显著富集了不同细胞类型的特征过程。此外，我们还鉴定了 404 个在唐氏综合征 21 三体中差异甲基化的 CVS 基因。这些基因显著富集了高 CG 二核苷酸（CpG）含量和与唐氏综合征相关的发育过程。我们的研究表明胎儿 DNA 甲基化存在显著的组织特异性差异，并提出了这样的假设，即唐氏综合征表型的一部分是在妊娠早期通过表观遗传编程的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/feb1/3378600/24624470354f/pone.0039014.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/feb1/3378600/084312a9f6a5/pone.0039014.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/feb1/3378600/3e0d13137c18/pone.0039014.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/feb1/3378600/437f1cfe92fc/pone.0039014.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/feb1/3378600/24624470354f/pone.0039014.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/feb1/3378600/084312a9f6a5/pone.0039014.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/feb1/3378600/3e0d13137c18/pone.0039014.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/feb1/3378600/437f1cfe92fc/pone.0039014.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/feb1/3378600/24624470354f/pone.0039014.g004.jpg

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