Transcriptional dysregulation in a Mecp2 methyl-binding domain point mutant model (Mecp2 G118E)

We recently identified a mutation in the methyl-binding domain of MECP2 (MECP2 G118E) in a male patient with Rett syndrome. To ask whether this mutation conferred similar molecular dysregulation as observed in previous mouse models of Rett syndrome, we generated a knockin mouse model of this mutation and collected the cortex for RNA-sequencing. Cortical tissue from Mecp2 G118E or litter-mate control wild-types were collected to isolate RNA. PolyA RNA-seq was performed from collected RNA and expression was analyzed for differential expression.我们近期在1名瑞特综合征（Rett syndrome）男性患者体内，发现了甲基CpG结合蛋白2（Methyl-CpG-binding protein 2，简称MECP2）的甲基结合结构域存在突变（MECP2 G118E）。为探究该突变是否会引发与既往瑞特综合征小鼠模型中观察到的类似分子失调现象，我们构建了该突变的基因敲入小鼠模型，并收集其大脑皮层组织用于RNA测序（RNA-sequencing）。我们收集了携带Mecp2 G118E突变的小鼠及其同窝野生型对照的大脑皮层组织以提取RNA。随后对提取得到的RNA开展了PolyA RNA测序（PolyA RNA-seq），并完成了差异表达分析。