Barlow Denise P, Bartolomei Marisa S
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, CeMM, 1090 Vienna, Austria.
Cold Spring Harb Perspect Biol. 2014 Feb 1;6(2):a018382. doi: 10.1101/cshperspect.a018382.
Genomic imprinting affects a subset of genes in mammals and results in a monoallelic, parental-specific expression pattern. Most of these genes are located in clusters that are regulated through the use of insulators or long noncoding RNAs (lncRNAs). To distinguish the parental alleles, imprinted genes are epigenetically marked in gametes at imprinting control elements through the use of DNA methylation at the very least. Imprinted gene expression is subsequently conferred through lncRNAs, histone modifications, insulators, and higher-order chromatin structure. Such imprints are maintained after fertilization through these mechanisms despite extensive reprogramming of the mammalian genome. Genomic imprinting is an excellent model for understanding mammalian epigenetic regulation.
基因组印记影响哺乳动物中的一部分基因,并导致单等位基因、亲本特异性的表达模式。这些基因大多位于通过绝缘子或长链非编码RNA(lncRNA)调控的基因簇中。为了区分亲本等位基因,印记基因至少通过在印记控制元件处的DNA甲基化在配子中进行表观遗传标记。随后,通过lncRNA、组蛋白修饰、绝缘子和高阶染色质结构赋予印记基因表达。尽管哺乳动物基因组经历了广泛的重编程,但通过这些机制,这种印记在受精后得以维持。基因组印记是理解哺乳动物表观遗传调控的一个极佳模型。