Role of SmcHD1 in the establishment of the epigenetic states required for the maintenance of X chromosome inactivation [RNA-seq]

It has been shown that functional deficiency of SmcHD1, a noncanonical member of SMC family proteins, results in derepression of X-inactivated genes in postimplantation female mouse embryos. In this study, we found that derepression of X-inactivated genes accompanied a local reduction in the enrichment of H3K27me3 in mouse embryonic fibroblasts (MEFs) prepared from female fetuses deficient for SmcHD1. Overall design: Allele-specific RNA-seq analysis of mouse embryonic fibroblasts (MEFs) prepared from female fetuses deficient for SmcHD1. The MEFs were obtained from B6-JF1 F1 males crossed with B6 females carrying Xist-deltaA mutation.已有研究证实，作为SMC家族蛋白非经典成员的SmcHD1功能缺失，可引发植入后雌性小鼠胚胎中X染色体失活基因的去抑制。 本研究发现，在取自SmcHD1缺陷雌性胎鼠的小鼠胚胎成纤维细胞（mouse embryonic fibroblasts, MEFs）中，X染色体失活基因的去抑制伴随有H3K27me3富集的局部降低。 整体实验设计：对取自SmcHD1缺陷雌性胎鼠的小鼠胚胎成纤维细胞（MEFs）进行等位基因特异性RNA测序（RNA-seq）分析。所用MEFs来源于携带Xist-ΔA突变的B6雌性小鼠与B6-JF1 F1雄性小鼠的杂交后代。