Howard Hughes Medical Institute, Chapel Hill, North Carolina 27599-7295, USA.
Nature. 2010 Jan 28;463(7280):554-8. doi: 10.1038/nature08732. Epub 2010 Jan 6.
The life cycle of mammals begins when a sperm enters an egg. Immediately after fertilization, both the maternal and paternal genomes undergo dramatic reprogramming to prepare for the transition from germ cell to somatic cell transcription programs. One of the molecular events that takes place during this transition is the demethylation of the paternal genome. Despite extensive efforts, the factors responsible for paternal DNA demethylation have not been identified. To search for such factors, we developed a live cell imaging system that allows us to monitor the paternal DNA methylation state in zygotes. Through short-interfering-RNA-mediated knockdown in mouse zygotes, we identified Elp3 (also called KAT9), a component of the elongator complex, to be important for paternal DNA demethylation. We demonstrate that knockdown of Elp3 impairs paternal DNA demethylation as indicated by reporter binding, immunostaining and bisulphite sequencing. Similar results were also obtained when other elongator components, Elp1 and Elp4, were knocked down. Importantly, injection of messenger RNA encoding the Elp3 radical SAM domain mutant, but not the HAT domain mutant, into MII oocytes before fertilization also impaired paternal DNA demethylation, indicating that the SAM radical domain is involved in the demethylation process. Our study not only establishes a critical role for the elongator complex in zygotic paternal genome demethylation, but also indicates that the demethylation process may be mediated through a reaction that requires an intact radical SAM domain.
哺乳动物的生命周期始于精子进入卵子。受精后,母源和父源基因组立即经历剧烈的重编程,为从生殖细胞向体细胞转录程序的转变做准备。在此转变过程中发生的分子事件之一是父源基因组的去甲基化。尽管进行了广泛的研究,但负责父源 DNA 去甲基化的因素尚未确定。为了寻找这些因素,我们开发了一种活细胞成像系统,使我们能够监测受精卵中的父源 DNA 甲基化状态。通过在小鼠受精卵中进行短干扰 RNA 介导的敲低,我们确定 Elp3(也称为 KAT9)是延伸复合物的一个组成部分,对于父源 DNA 去甲基化很重要。我们证明 Elp3 的敲低会损害父源 DNA 去甲基化,如报告蛋白结合、免疫染色和亚硫酸氢盐测序所示。当敲低其他延伸复合物成分 Elp1 和 Elp4 时,也得到了类似的结果。重要的是,在受精前将编码 Elp3 自由基 SAM 结构域突变体的信使 RNA 注射到 MII 卵母细胞中,也会损害父源 DNA 去甲基化,表明 SAM 自由基结构域参与了去甲基化过程。我们的研究不仅确立了延伸复合物在受精卵中父源基因组去甲基化中的关键作用,还表明去甲基化过程可能通过需要完整自由基 SAM 结构域的反应来介导。