Department of Urology, Peking University Third Hospital, Beijing, China.
Department of Andrology, Peking University Third Hospital, Beijing, China.
Andrologia. 2020 Dec;52(11):e13812. doi: 10.1111/and.13812. Epub 2020 Aug 30.
Maturation arrest is a common cause of male infertility which has caused worldwide concern, and its pathophysiological process remains further elucidation. Our study aimed to identify genetic characteristics of maturation arrest by comparing gene expression between maturation arrest and normal samples using microarray technology. A total of 6,373 genes were identified differentially expressed (p < .05, fold change > 2.0 or <-2.0) and 1,594 genes were selected as statistically significant after Bonferroni correction, including 419 up-regulated and 1,175 down-regulated genes. Microarray data were validated by quantitative reverse transcriptase-polymerase chain reaction. Bioinformation analysis was performed to explore genetic function of statistically significant genes. Gene Ontology results showed the statistically significant genes enriched in sexual reproduction, spermatogenesis and male gamete generation. Reactome pathway analysis highlighted the olfactory signalling pathway, fertilisation, developmental biology, etc. One module and eight hub genes were found to be involved in ubiquitin-mediated proteolysis and may affect as indicators of spermatogenic process through protein-protein interaction analysis. Our study provided a comprehensive genetic characteristic of differential expressed genes in testicular tissues from maturation arrest patients and speculated several genes as potential indicators of disease.
精母细胞成熟阻滞是一种常见的男性不育症病因，引起了全球关注，但它的病理生理过程仍有待进一步阐明。本研究旨在通过使用微阵列技术比较精母细胞成熟阻滞和正常样本的基因表达，来鉴定精母细胞成熟阻滞的遗传特征。通过微阵列技术，我们共鉴定出 6373 个差异表达的基因（p<0.05，倍数变化>2.0 或<-2.0），经 Bonferroni 校正后，有 1594 个基因被选为统计学上有意义的基因，包括 419 个上调基因和 1175 个下调基因。通过定量逆转录聚合酶链反应验证了微阵列数据。通过生物信息学分析探索了统计学上有意义的基因的遗传功能。基因本体论结果表明，统计学上有意义的基因富集于有性生殖、精子发生和雄性配子发生。Reactome 通路分析强调了嗅觉信号通路、受精、发育生物学等。通过蛋白质-蛋白质相互作用分析，发现了一个模块和 8 个枢纽基因参与了泛素介导的蛋白水解，可能通过影响蛋白相互作用作为精子发生过程的指标。本研究提供了精母细胞成熟阻滞患者睾丸组织中差异表达基因的全面遗传特征，并推测了几个作为疾病潜在指标的基因。
