CeMM, Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Annu Rev Genet. 2011;45:379-403. doi: 10.1146/annurev-genet-110410-132459. Epub 2011 Sep 13.
Genomic imprinting is an epigenetic process leading to parental-specific expression of one to two percent of mammalian genes that offers one of the best model systems for a molecular analysis of epigenetic regulation in development and disease. In the twenty years since the first imprinted gene was identified, this model has had a significant impact on decoding epigenetic information in mammals. So far it has led to the discovery of long-range cis-acting control elements whose epigenetic state regulates small clusters of genes and of unusual macro noncoding RNAs (ncRNAs) that directly repress genes in cis, and critically, it has demonstrated that one biological role of DNA methylation is to allow expression of genes normally repressed by default. This review describes the progress in understanding how imprinted protein-coding genes are silenced; in particular, it focuses on the role of macro ncRNAs that have broad relevance as a potential new layer of regulatory information in the mammalian genome.
基因组印记是一种表观遗传过程，导致双亲特异性表达哺乳动物基因的百分之一到百分之二，为发育和疾病中表观遗传调控的分子分析提供了最佳的模型系统之一。自第一个印记基因被鉴定以来的二十年中，该模型对破解哺乳动物中的表观遗传信息产生了重大影响。迄今为止，它导致了长距离顺式作用控制元件的发现，其表观遗传状态调节小簇基因和异常的长非编码 RNA（ncRNA），这些 ncRNA 直接在顺式中抑制基因，至关重要的是，它表明 DNA 甲基化的一个生物学作用是允许通常因默认而被抑制的基因表达。这篇综述描述了在理解印迹蛋白编码基因如何沉默方面的进展；特别是，它集中于宏 ncRNA 的作用，作为哺乳动物基因组中潜在的新调控信息层，具有广泛的相关性。
