RNA-seq analysis of thick ascending limb (TAL) epithelium isolated from uromodulin (UMOD) deletion mutation mice and wild type (WT) mice at 16wks of age

To gain insight into the mechanisms underlying the defective autophagic activity and its functional impact on the pathogenesis of disease, we performed RNA sequencing (RNA-seq) of mRNA isolated from TAL cells purified from heterozyous Umod deletion mutation mice (DEL/+) and Umod +/+ littermates at 16 weeks, the full-blown stage of the disease. Our analysis revealed that 9566 genes were significantly differentially expressed between mutant and WT TAL cells, including 4706 upregulated and 4860 downregulated. TAL mRNA profiles of 16-week old UMOD WT and deletion mutation mice were generated by RNA-seq.

为深入解析自噬活性缺陷的分子机制及其对疾病发病进程的功能性影响，本研究针对16周龄（疾病完全发病阶段）杂合Umod基因缺失突变小鼠（DEL/+）及其野生型同窝对照（Umod +/+）纯化的髓袢升支粗段（TAL）细胞中提取的mRNA开展了RNA测序（RNA-seq）。分析结果表明，突变型与野生型TAL细胞间共存在9566个显著差异表达基因，其中上调基因4706个，下调基因4860个。本研究通过RNA-seq构建了16周龄UMOD野生型及缺失突变小鼠的TAL细胞mRNA表达谱。