Transcriptomic profiling of E9.5 mouse embryos lacking the lipoprotein receptor SR-B1

The high-density lipoprotein receptor SR-B1 mediates cellular uptake of several lipid species, including cholesterol and vitamin E. During early development, SR-B1 is located in the maternal-fetal interface, where it facilitates vitamin E transport towards the embryo. Consequently, embryos lacking SR-B1 are vitamin E-deficient, and around half of them fail to close the neural tube and show neural tube defects (NTD). Here, we studied the transcriptomic profile of mouse embryos lacking SR-B1 to identify the molecular determinants of this phenotypic difference. We used RNA-Seq to analyze the expression of mRNA globally in E9.5 wild-type embryos and embryos lacking SR-B1 with or without NTD, in order to compare expression profiles in those groups and to identify putative genes driving phenotypic differences. We analyzed 3 samples of each group (wild-type, SR-B1 KO normal, SR-B1 KO NTD). Each samples corresponded to a pool of 3 embryos.

高密度脂蛋白受体SR-B1（SR-B1）可介导胆固醇、维生素E等多种脂质的细胞摄取。在胚胎发育早期，SR-B1定位于母胎界面，促进维生素E向胚胎转运。因此，缺失SR-B1的胚胎会出现维生素E缺乏，其中约半数无法完成神经管闭合，表现出神经管缺陷（NTD）。本研究针对缺失SR-B1的小鼠胚胎的转录组谱展开分析，以鉴定该表型差异的分子决定因素。我们采用RNA测序（RNA-Seq）技术，对E9.5时期的野生型胚胎、伴或不伴神经管缺陷的SR-B1敲除（SR-B1 KO）胚胎进行全局mRNA表达分析，通过比较各组的表达谱，筛选驱动表型差异的潜在基因。本研究每组各设置3份样本（野生型、SR-B1敲除正常胚胎、SR-B1敲除伴神经管缺陷胚胎），每份样本由3枚胚胎混合制备。