Perini G, Tupler R
Department of Biology, University of Bologna, Italy.
Clin Genet. 2006 Jan;69(1):1-7. doi: 10.1111/j.1399-0004.2005.00540.x.
Epigenetic regulation of gene expression is mediated through several mechanisms, including modifications in DNA methylation, covalent modifications of core nucleosomal histones, rearrangement of histones and RNA interference. It is now clear that deregulation of epigenetic mechanisms cooperates with genetic alterations in the development and progression of several Mendelian disorders. Here, we summarize the recent findings that highlight how certain inherited diseases, such as Rett syndrome, Immunodeficiency-centromeric instability-facial anomalies syndrome, and facioscapulohumeral muscular dystrophy, result from altered gene silencing.
基因表达的表观遗传调控是通过多种机制介导的，包括DNA甲基化修饰、核心核小体组蛋白的共价修饰、组蛋白重排和RNA干扰。现在很清楚，表观遗传机制的失调与几种孟德尔疾病发生发展过程中的基因改变相互作用。在这里，我们总结了最近的研究发现，这些发现突出了某些遗传性疾病，如雷特综合征、免疫缺陷-着丝粒不稳定-面部异常综合征和面肩肱型肌营养不良，是如何由基因沉默改变导致的。
