Cortical transcriptome analysis of Cyfip2 mutant mice

CYFIP2 is a component of the WAVE regulatory complex which regulates actin polymerization and branching in diverse cellular compartments. Recent molecular genetic studies identified mutations of CYFIP2 in patients with early-onset epileptic encephalopathy and microcephaly, suggesting that CYFIP2 may have some roles in embryonic brain development. To understand its functions in vivo at the molecular level, we performed RNA-seq analysis in embryonic Cyfip2 mutant mice. Cortical transcriptome of embryonic day 18.5 wild-type and Cyfip2 mutant mice.CYFIP2（CYFIP2）是WAVE调节复合物（WAVE regulatory complex）的组成部分，该复合物可调控多种细胞区室中的肌动蛋白聚合与分支过程。近期的分子遗传学研究在早发性癫痫性脑病及小头畸形患者中发现了CYFIP2的突变，提示CYFIP2可能在胚胎脑发育中发挥一定作用。为在分子水平上阐释其体内功能，本研究对胚胎期Cyfip2突变小鼠开展了RNA测序（RNA-seq）分析，检测了胚胎第18.5天野生型与Cyfip2突变小鼠的皮层转录组。