摘要
DNA甲基化是表观遗传学的重要分支，是指在DNA甲基化转移酶的作用下，基因组CpG二核苷酸的胞嘧啶5’碳位共价键结合一个甲基基团。启动子区DNA甲基化CpG岛将与DNA甲基化CpG结合蛋白等结合或直接影响转录因子的结合使基因沉默。研究方法包括基因组总体甲基化检测、特异位点的DNA甲基化检测和寻找新的DNA甲基化位点。随着研究的深入，学者发现DNA甲基化在视网膜母细胞瘤、葡萄膜黑色素瘤和眼表肿瘤等常见眼部肿瘤的发生发展中起到重要作用，本文就此方面的研究进展作一综述。
DNA methylation is a major event of epigenetic modifications. In the presence of DNA methyltransferases （DNMT）, the addition of methyl groups from cytosines can impact gene expression and alter cell and organism function. Methyl groups of CpG sites in the promoter can directly interfere with binding of transcription factors to their recognition cis elements or, on the other side, can facilitate interaction with a family of methyl-binding proteins and result in gene silencing. Analysis of DNA methylation includes genome-wide DNA methylation assessment, analysis of gene-specific DNA methylation and finding of new DNA methylation sites. The implication of DNA methylation has been suggested with the pathogenesis of retinoblastoma, uveal tract melanoma and ocular surface tumor. We focus on the progresses of DNA methylation on ocular tumors in this article.
出处
《中华眼科杂志》
CAS
CSCD
北大核心
2015年第12期950-954,共5页
Chinese Journal of Ophthalmology
