Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre national de la recherche scientifique/Institut National de la Santé et de la Recherche Médicale U964, Université de Strasbourg, F-67404 Illkirch, France.
Nat Cell Biol. 2010 Sep;12(9):853-62. doi: 10.1038/ncb2089. Epub 2010 Aug 1.
In mammals, oocyte fertilization by sperm initiates development. This is followed by epigenetic reprogramming of both parental genomes, which involves the de novo establishment of chromatin domains. In the mouse embryo, methylation of histone H3 establishes an epigenetic asymmetry and is predominant in the maternal pronucleus. However, the roles of differential incorporation of histone H3 variants in the parental chromatin, and of modified residues within specific histone variants, have not been addressed. Here we show that the histone variant H3.3, and in particular lysine 27, is required for the establishment of heterochromatin in the mouse embryo. H3.3 localizes to paternal pericentromeric chromatin during S phase at the time of transcription of pericentromeric repeats. Mutation of H3.3 K27, but not of H3.1 K27, results in aberrant accumulation of pericentromeric transcripts, HP1 mislocalization, dysfunctional chromosome segregation and developmental arrest. This phenotype is rescued by injection of double-stranded RNA (dsRNA) derived from pericentromeric transcripts, indicating a functional link between H3.3K27 and the silencing of such regions by means of an RNA-interference (RNAi) pathway. Our work demonstrates a role for a modifiable residue within a histone-variant-specific context during reprogramming and identifies a novel function for mammalian H3.3 in the initial formation of dsRNA-dependent heterochromatin.
在哺乳动物中,卵母细胞通过精子受精启动发育。随后,双亲基因组经历表观遗传重编程,涉及新建立染色质结构域。在小鼠胚胎中,组蛋白 H3 的甲基化建立了一种表观遗传不对称性,并且在母本原核中占主导地位。然而,组蛋白 H3 变体在亲本染色质中的差异掺入,以及特定组蛋白变体中修饰残基的作用,尚未得到解决。在这里,我们表明,组蛋白变体 H3.3,特别是赖氨酸 27,对于在小鼠胚胎中建立异染色质是必需的。H3.3 在 S 期定位到父本着丝粒周围染色质,此时着丝粒重复序列转录。H3.3 K27 的突变,但不是 H3.1 K27 的突变,导致着丝粒周围转录本的异常积累、HP1 定位错误、染色体分离功能障碍和发育停滞。这种表型可以通过注射双链 RNA(dsRNA)得到挽救,dsRNA 来源于着丝粒周围的转录本,表明 H3.3K27 与通过 RNA 干扰(RNAi)途径沉默这些区域之间存在功能联系。我们的工作表明,在重编程过程中,组蛋白变体特异性结构域中的一个可修饰残基起作用,并确定了哺乳动物 H3.3 在 dsRNA 依赖性异染色质初始形成中的新功能。