Genetics and Development Department, Institut National de la Santé et de la Recherche Médicale U1016, Centre National de la Recherche Scientifique (CNRS) Unité Mixte de Recherche (UMR) 8104, University Paris Descartes, Institut Cochin, Paris 75014, France.
Proc Natl Acad Sci U S A. 2013 Dec 17;110(51):20693-8. doi: 10.1073/pnas.1310201110. Epub 2013 Dec 2.
The H19 gene controls the expression of several genes within the Imprinted Gene Network (IGN), involved in growth control of the embryo. However, the underlying mechanisms of this control remain elusive. Here, we identified the methyl-CpG-binding domain protein 1 MBD1 as a physical and functional partner of the H19 long noncoding RNA (lncRNA). The H19 lncRNA-MBD1 complex is required for the control of five genes of the IGN. For three of these genes--Igf2 (insulin-like growth factor 2), Slc38a4 (solute carrier family 38 member 4), and Peg1 (paternally expressed gene 1)--both MBD1 and H3K9me3 binding were detected on their differentially methylated regions. The H19 lncRNA-MBD1 complex, through its interaction with histone lysine methyltransferases, therefore acts by bringing repressive histone marks on the differentially methylated regions of these three direct targets of the H19 gene. Our data suggest that, besides the differential DNA methylation found on the differentially methylated regions of imprinted genes, an additional fine tuning of the expressed allele is achieved by a modulation of the H3K9me3 marks, mediated by the association of the H19 lncRNA with chromatin-modifying complexes, such as MBD1. This results in a precise control of the level of expression of growth factors in the embryo.
H19 基因控制着印迹基因网络(IGN)内的几个基因的表达,这些基因参与胚胎的生长调控。然而,这种控制的潜在机制仍然难以捉摸。在这里,我们确定了甲基化-CpG 结合域蛋白 1(MBD1)是 H19 长非编码 RNA(lncRNA)的物理和功能伙伴。H19 lncRNA-MBD1 复合物是控制 IGN 的五个基因的必需条件。对于其中三个基因——胰岛素样生长因子 2(Igf2)、溶质载体家族 38 成员 4(Slc38a4)和父系表达基因 1(Peg1)——在它们的差异甲基化区域都检测到了 MBD1 和 H3K9me3 的结合。H19 lncRNA-MBD1 复合物通过与组蛋白赖氨酸甲基转移酶相互作用,因此通过在 H19 基因的这三个直接靶基因的差异甲基化区域上引入抑制性组蛋白标记来发挥作用。我们的数据表明,除了在印迹基因的差异甲基化区域上发现的差异 DNA 甲基化之外,通过 H19 lncRNA 与染色质修饰复合物(如 MBD1)的关联,对 H3K9me3 标记进行调节,可以实现表达等位基因的额外精细调控,从而精确控制胚胎中生长因子的表达水平。