Genetic characterization of a missense mutation in the X-linked TAF7L gene in an oligozoospermic man

We carried out genome-wide expression profiling by RNA-seq to determine whether the mutation brings about a certain influence to the transcriptomic homeostasis. Indeed, there were some differential expressions of mRNA and noncoding genes in comparison of the Taf7lD144G and wide-type testis, lending support to mutation-caused defects at molecular level. Overall design: Examination of transcriptome profiling coding and noncoding gene of adult wild type(WT) and taf7l mutant mice testis

本研究通过RNA测序（RNA-seq）开展全基因组表达谱分析，以探究该突变是否会对转录组稳态产生影响。结果显示，在Taf7lD144G突变型与野生型（wild-type）小鼠睾丸组织的对比中，二者的mRNA及非编码基因存在部分差异表达，这为突变在分子层面引发的缺陷提供了有力佐证。整体实验设计：对成年野生型（WT）与taf7l突变型小鼠的睾丸组织进行编码基因与非编码基因的转录组谱分析。