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The diverse roles of DNA methylation in mammalian development and disease.
Nature Reviews Molecular Cell Biology ( IF 81.3 ) Pub Date : 2019-08-09 , DOI: 10.1038/s41580-019-0159-6 Maxim V C Greenberg 1 , Deborah Bourc'his 1
Nature Reviews Molecular Cell Biology ( IF 81.3 ) Pub Date : 2019-08-09 , DOI: 10.1038/s41580-019-0159-6 Maxim V C Greenberg 1 , Deborah Bourc'his 1
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DNA methylation is of paramount importance for mammalian embryonic development. DNA methylation has numerous functions: it is implicated in the repression of transposons and genes, but is also associated with actively transcribed gene bodies and, in some cases, with gene activation per se. In recent years, sensitive technologies have been developed that allow the interrogation of DNA methylation patterns from a small number of cells. The use of these technologies has greatly improved our knowledge of DNA methylation dynamics and heterogeneity in embryos and in specific tissues. Combined with genetic analyses, it is increasingly apparent that regulation of DNA methylation erasure and (re-)establishment varies considerably between different developmental stages. In this Review, we discuss the mechanisms and functions of DNA methylation and demethylation in both mice and humans at CpG-rich promoters, gene bodies and transposable elements. We highlight the dynamic erasure and re-establishment of DNA methylation in embryonic, germline and somatic cell development. Finally, we provide insights into DNA methylation gained from studying genetic diseases.
中文翻译：
DNA甲基化在哺乳动物发育和疾病中的多种作用。
DNA甲基化对于哺乳动物的胚胎发育至关重要。DNA甲基化具有许多功能：与转座子和基因的抑制有关，但也与活跃转录的基因体有关，在某些情况下还与基因激活本身有关。近年来，已经开发了允许从少量细胞中询问DNA甲基化模式的灵敏技术。这些技术的使用极大地提高了我们对胚胎和特定组织中DNA甲基化动力学和异质性的认识。结合遗传分析，越来越明显的是，在不同的发育阶段之间，DNA甲基化清除和（重新）建立的调控差异很大。在这篇评论中，我们讨论了富含CpG的启动子，基因体和转座因子在小鼠和人类中DNA甲基化和去甲基化的机制和功能。我们着重指出了在胚胎，种系和体细胞发育中DNA甲基化的动态擦除和重建。最后，我们提供了从研究遗传疾病中获得的DNA甲基化的见解。
更新日期：2019-08-09
中文翻译：
DNA甲基化在哺乳动物发育和疾病中的多种作用。
DNA甲基化对于哺乳动物的胚胎发育至关重要。DNA甲基化具有许多功能：与转座子和基因的抑制有关，但也与活跃转录的基因体有关，在某些情况下还与基因激活本身有关。近年来，已经开发了允许从少量细胞中询问DNA甲基化模式的灵敏技术。这些技术的使用极大地提高了我们对胚胎和特定组织中DNA甲基化动力学和异质性的认识。结合遗传分析，越来越明显的是，在不同的发育阶段之间，DNA甲基化清除和（重新）建立的调控差异很大。在这篇评论中，我们讨论了富含CpG的启动子，基因体和转座因子在小鼠和人类中DNA甲基化和去甲基化的机制和功能。我们着重指出了在胚胎，种系和体细胞发育中DNA甲基化的动态擦除和重建。最后，我们提供了从研究遗传疾病中获得的DNA甲基化的见解。
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