Department of Oral Immunology and Infectious Diseases, Division of Craniofacial Development and Anomalies, University of Louisville School of Dentistry, Louisville, Kentucky.
Birth Defects Res. 2019 Dec 1;111(20):1593-1610. doi: 10.1002/bdr2.1564. Epub 2019 Aug 5.
In this review, we highlight the current state of knowledge of the diverse roles nucleic acid methylation plays in the embryonic development of the orofacial region and how aberrant methylation may contribute to orofacial clefts. We also consider the role of methylation in the regulation of neural crest cell function as it pertains to orofacial ontogeny. Changes in DNA methylation, as a consequence of environmental effects, have been observed in the regulatory regions of several genes, potentially identifying new candidate genes for orofacial clefting and opening promising new avenues for further research. While the focus of this review is primarily on the nonsyndromic forms of orofacial clefting, syndromic forms are briefly discussed in the context of aberrant nucleic acid methylation.
在这篇综述中，我们强调了核酸甲基化在口腔面部区域胚胎发育中所扮演的多种角色，以及异常甲基化如何导致口腔面裂。我们还考虑了甲基化在调节神经嵴细胞功能方面的作用，因为这与口腔面发生有关。环境影响导致 DNA 甲基化的变化已在几个基因的调控区域观察到，这可能为口腔面裂鉴定新的候选基因，并为进一步研究开辟有前途的新途径。虽然本综述的重点主要是非综合征型口腔面裂，但在异常核酸甲基化的背景下简要讨论了综合征型口腔面裂。
