Seelan Ratnam S, Mukhopadhyay Partha, Pisano M Michele, Greene Robert M
Department of Molecular, Cellular and Craniofacial Biology, Birth Defects Center, ULSD, University of Louisville, 501 S. Preston Street, Louisville, KY 40202, USA.
ILAR J. 2012;53(3-4):240-52. doi: 10.1093/ilar.53.3-4.240.
Orofacial clefts occur with a frequency of 1 to 2 per 1000 live births. Cleft palate, which accounts for 30% of orofacial clefts, is caused by the failure of the secondary palatal processes--medially directed, oral projections of the paired embryonic maxillary processes--to fuse. Both gene mutations and environmental effects contribute to the complex etiology of this disorder. Although much progress has been made in identifying genes whose mutations are associated with cleft palate, little is known about the mechanisms by which the environment adversely influences gene expression during secondary palate development. An increasing body of evidence, however, implicates epigenetic processes as playing a role in adversely influencing orofacial development. Epigenetics refers to inherited changes in phenotype or gene expression caused by processes other than changes in the underlying DNA sequence. Such processes include, but are not limited to, DNA methylation, microRNA effects, and histone modifications that alter chromatin conformation. In this review, we describe our current understanding of the possible role epigenetics may play during development of the secondary palate. Specifically, we present the salient features of the embryonic palatal methylome and profile the expression of numerous microRNAs that regulate protein-encoding genes crucial to normal orofacial ontogeny.
口面部裂隙的发生率为每1000例活产中有1至2例。腭裂占口面部裂隙的30%,它是由继发腭突(成对胚胎上颌突的向内侧延伸的口腔突起)未能融合所致。基因突变和环境因素都对这种疾病复杂的病因有影响。尽管在鉴定与腭裂相关的基因突变方面已经取得了很大进展,但对于环境在继发腭发育过程中对基因表达产生不利影响的机制却知之甚少。然而,越来越多的证据表明表观遗传过程在对口面部发育产生不利影响中起作用。表观遗传学是指由潜在DNA序列变化以外的过程引起的表型或基因表达的遗传变化。这些过程包括但不限于DNA甲基化、微小RNA效应以及改变染色质构象的组蛋白修饰。在这篇综述中,我们描述了目前对表观遗传学在继发腭发育过程中可能发挥的作用的理解。具体而言,我们展示了胚胎腭甲基化组的显著特征,并概述了众多调控对正常口面部个体发育至关重要的蛋白质编码基因的微小RNA的表达情况。