Next Generation Sequencing of Wild Type and Glis3 Mutant Fetal Testis Transcriptomes

The goals of this study are to utilize high-throughput transcriptome sequencing of mutant and control fetal testis samples to identify changes in both transcript and repeat element abundance in tissues harboring a homozygous mutation for Glis3. 672 unique genes were differentially expressed in mutant versus wild-type samples. Of the downregulated genes, there was a strong enrichment for piRNA pathway members, while upregulated genes were associated with leydig cell differentiation, meiosis, and histone cluster genes. Differential expression of several repeat elements was also detected in mutant samples. Our findings provide valuable information on the potential mechanisms underlying the fetal germ cell loss observed in Glis3 mutant testes. Whole testis mRNA profiles of embryonic day 14.5 wild type (WT) and Glis3 mutant mice were generated by deep sequencing, using Illumina HiSeq2500本研究旨在通过对突变型与对照胎儿睾丸样本开展高通量转录组测序，以鉴定携带Glis3纯合突变的组织中转录本与重复元件的丰度变化。在突变型与野生型样本间，共鉴定得到672个差异表达的独特基因。其中下调基因显著富集于piRNA（Piwi-interacting RNA）通路相关成员，而上调基因则与莱迪希细胞（Leydig cell）分化、减数分裂以及组蛋白簇基因密切相关。本研究同时在突变型样本中检测到多个重复元件的差异表达现象。本研究结果可为阐明Glis3突变睾丸中观察到的胎儿生殖细胞丢失的潜在机制提供有价值的参考信息。本研究采用Illumina HiSeq2500平台进行深度测序，成功获取了胚胎第14.5天野生型（WT）与Glis3突变型小鼠的全睾丸mRNA表达谱。