Sainty Rebecca, Silver Matt J, Prentice Andrew M, Monk David
Biomedical Research Centre, School of Biological Sciences, University of East Anglia, Norwich, United Kingdom.
Medical Research Council Unit The Gambia at London School of Hygiene and Tropical Medicine, London, United Kingdom.
Front Cell Dev Biol. 2023 Jul 6;11:1212199. doi: 10.3389/fcell.2023.1212199. eCollection 2023.
DNA methylation is the most commonly studied epigenetic mark in humans, as it is well recognised as a stable, heritable mark that can affect genome function and influence gene expression. Somatic DNA methylation patterns that can persist throughout life are established shortly after fertilisation when the majority of epigenetic marks, including DNA methylation, are erased from the pre-implantation embryo. Therefore, the period around conception is potentially critical for influencing DNA methylation, including methylation at imprinted alleles and metastable epialleles (MEs), loci where methylation varies between individuals but is correlated across tissues. Exposures before and during conception can affect pregnancy outcomes and health throughout life. Retrospective studies of the survivors of famines, such as those exposed to the Dutch Hunger Winter of 1944-45, have linked exposures around conception to later disease outcomes, some of which correlate with DNA methylation changes at certain genes. Animal models have shown more directly that DNA methylation can be affected by dietary supplements that act as cofactors in one-carbon metabolism, and in humans, methylation at birth has been associated with peri-conceptional micronutrient supplementation. However, directly showing a role of micronutrients in shaping the epigenome has proven difficult. Recently, the placenta, a tissue with a unique hypomethylated methylome, has been shown to possess great inter-individual variability, which we highlight as a promising target tissue for studying MEs and mixed environmental exposures. The placenta has a critical role shaping the health of the fetus. Placenta-associated pregnancy complications, such as preeclampsia and intrauterine growth restriction, are all associated with aberrant patterns of DNA methylation and expression which are only now being linked to disease risk later in life.
DNA甲基化是人类研究最为广泛的表观遗传标记,因为它被公认为是一种稳定的、可遗传的标记,能够影响基因组功能并影响基因表达。在受精后不久,当包括DNA甲基化在内的大多数表观遗传标记从植入前胚胎中被清除时,能够持续一生的体细胞DNA甲基化模式就建立起来了。因此,受孕前后这段时间对于影响DNA甲基化可能至关重要,包括印记等位基因和亚稳定表观等位基因(MEs)的甲基化,这些位点的甲基化在个体之间存在差异,但在不同组织中具有相关性。受孕前和受孕期间的暴露可能会影响整个孕期的结果和一生的健康。对饥荒幸存者的回顾性研究,比如那些经历过1944 - 1945年荷兰饥荒之冬的人,已经将受孕前后的暴露与后期疾病结果联系起来,其中一些与某些基因的DNA甲基化变化相关。动物模型更直接地表明,DNA甲基化会受到作为一碳代谢辅助因子的膳食补充剂的影响,在人类中,出生时的甲基化与受孕前后的微量营养素补充有关。然而,直接证明微量营养素在塑造表观基因组中的作用已被证明是困难的。最近,胎盘作为一种具有独特低甲基化甲基组的组织,已被证明具有很大的个体间变异性,我们将其作为研究MEs和混合环境暴露的一个有前景的靶组织加以强调。胎盘在塑造胎儿健康方面起着关键作用。与胎盘相关的妊娠并发症,如先兆子痫和宫内生长受限,都与DNA甲基化和表达的异常模式有关,而这些异常模式直到现在才与后期生活中的疾病风险联系起来。