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 wild-type testis, lending support to mutation-caused defects at molecular level. 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。相较于Taf7lD144G突变型与野生型小鼠睾丸，二者的信使RNA（mRNA）及非编码基因存在若干差异表达现象，该结果为突变在分子层面引发的缺陷提供了实验佐证。本研究针对成年野生型（WT）及taf7l突变小鼠的睾丸，完成了编码基因与非编码基因的转录组谱分析。