RNAseq of DUX KO mouse 2-cell embryos

Some of the earliest transcripts produced in fertilized human and mouse oocytes code for DUX, a double homeodomain protein that promotes embryonic genome activation (EGA). Deleting Dux by genome editing at the 1- to 2-cell stage in the mouse impairs EGA and blastocyst maturation. Here, we demonstrate that mice carrying homozygous Dux deletions display markedly reduced expression of DUX target genes and defects in both pre- and post-implantation development, with notably a disruption of the pace of the first few cell divisions and significant rates of late embryonic mortality. However, some Dux-/- embryos give raise to viable pups, indicating that DUX is important but not strictly essential for embryogenesis. RNA-sequencing of mouse 2-cell embryos from WT, heterozygous and homozygous DUX KO mice crossings受精人类与小鼠卵母细胞所产生的部分早期转录本可编码DUX——一种可促进胚胎基因组激活（Embryonic Genome Activation, EGA）的双同源结构域蛋白。在小鼠1-细胞至2-细胞阶段通过基因组编辑敲除Dux，会损害胚胎基因组激活与囊胚成熟过程。本研究证实，携带纯合Dux缺失的小鼠，其DUX靶基因的表达水平显著降低，且植入前与植入后发育均存在缺陷，具体表现为早期数次细胞分裂的进程紊乱，同时晚期胚胎致死率显著升高。但部分Dux纯合敲除（Dux-/-）胚胎可发育为存活幼崽，这表明DUX对胚胎发生过程至关重要，但并非绝对必需。本研究对来自野生型（Wild Type, WT）、杂合子及纯合子DUX敲除（Knock Out, KO）小鼠交配所得的小鼠2-细胞胚胎进行了RNA测序。