DNA methylation in mammalian development and disease.
DNA methylation in mammalian development and disease.
复制标题
DOI：
10.1002/bdrc.20037
复制
发表时间：
2005-06-01
期刊：
影响因子：
--
通讯作者：
Santos, Fatima
中科院分区：
文献类型：
--
作者：
Dean, Wendy;Lucifero, Diana;Santos, Fatima
DNA的胞嘧啶碱基通过甲基化进行的表观遗传修饰引入了一种可能性，即除了核苷酸序列中包含的固有信息之外，还有一层额外的信息添加到潜在的遗传密码中。DNA甲基化涉及广泛的生物学功能，包括在生殖细胞和早期胚胎的重编程中的重要发育作用，内源性逆转录转座子的抑制，以及在基因表达中的普遍作用。DNA甲基化的特殊功能包括标记许多印记基因的亲本等位基因之一，这是一组对哺乳动物生长和发育至关重要的基因，具有独特的亲本表达模式，在稳定X染色体失活中起作用，以及着丝粒功能。在这方面，建立或维持甲基化模式的错误与多种人类疾病和综合征相关并不奇怪。
Epigenetic modification of the cytosine base of DNA by its methylation introduced the possibility that beyond the inherent information contained within the nucleotide sequence there was an additional layer of information added to the underlying genetic code. DNA methylation has been implicated in a wide range of biological functions, including an essential developmental role in the reprogramming of germ cells and early embryos, the repression of endogenous retrotransposons, and a generalized role in gene expression. Special functions of DNA methylation include the marking of one of the parental alleles of many imprinted genes, a group of genes essential for growth and development in mammals with a unique parent-of-origin expression pattern, a role in stabilizing X-chromosome inactivation, and centromere function. In this regard, it is not surprising that errors in establishing or maintaining patterns of methylation are associated with a diverse group of human diseases and syndromes.