Tcte1 knockout influence on energy chain transportation, apoptosis and spermatogenesis - implications for male infertility

RNA sequencing (RNAseq) in testis tissue has been done to obtain an answer about the influence of Tcte1 null mutation in knockout mice on the expression pattern of other gonadal genes in male animals that may be influential for male fertility status. Homozygous males (infertile) revealed oligoasthenoteratozoospermia (incl. circular pathway of sperm motility), while heterozygous animals (fertile) manifested oligozoospermia, suggesting haploinsufficiency. RNA-sequencing of the mutant testicular tissue showed the influence of Tcte1 mutations on the expression pattern of genes responsible for mitochondrial ATP processing, linked with apoptosis, or spermatogenesis. Gene expression profiling analysis using data obtained from RNA-seq of testicular tissue from wild type, heterozygous and homozygous male mice.本研究通过对睾丸组织开展RNA测序（RNA sequencing，简称RNAseq），旨在探究基因敲除小鼠体内Tcte1基因敲除突变对雄性动物其他性腺基因表达模式的影响，该影响或与雄性生育能力相关。实验结果显示，纯合子雄性小鼠（不育）呈现少弱畸精子症（包含精子运动环形通路异常），而杂合子小鼠（可育）则表现为少精子症，这表明存在单倍剂量不足效应。对突变型睾丸组织的RNA测序分析表明，Tcte1突变可影响参与线粒体ATP代谢、细胞凋亡或精子发生的基因的表达模式。本研究利用野生型、杂合子与纯合子雄性小鼠的睾丸组织RNA测序数据，开展了基因表达谱分析。