【摘要】 目的研究精子中特异表达的基因,以加深对精子分子生物学的认识。方法采用GATHER、PANTHER和DAVID等在线生物信息学分析工具,分析从GEO中下载的人正常精子、人正常卵子和人10种不同组织细胞混合样本的基因芯片杂交数据,从中挖掘出在精子中特异表达的基因及其表达特征。结果人精子与正常对照组和人卵子细胞与正常对照组的差异基因筛选分析,分别得到8998和8981个差异表达基因。其中,有25个基因在精子中的表达量增加200倍。1709个在人精子高表达的基因探针(ratio大于5)中,有1218个在卵子细胞和正常对照组中表达无差异,有129个在卵子细胞中高表达,有362个在卵子细胞中低表达。精子中特异表达的基因主要位于蛋白质修饰与代谢、核苷酸代谢生物过程中,较少涉及细胞信号转导通路或在通路中发挥重要作用。此外,还发现:(1)有大量包含KRAB的转录因子和受体非依赖性的丝氨酸/苏氨酸蛋白激酶在精子中特异性高表达;(2)精子中特异表达的部分基因高度集中在神经干细胞和胚胎干细胞的基因转录表达谱中;(3)精子中糖酵解相关的酶系低表达。结论基于生物信息学的精子特异表达基因的挖掘,能充分利用不同的数据资源,更方便快捷地了解精子基因表达的全貌,加深对精子分子生物学的认识。更多还原

【Abstract】 Objective To analyze the specifically expressed genes in sperms for better understanding of the molecular characteristics of sperms. Methods The hybridization data the genes in the sperms, oocytes and 10 normal tissues were retrieved from the GEO database to identify the genes expressed specifically in sperms and the patterns of their regulation using such bioinformatic tools as GATHER, PANTHER and DAVID. Results and Conclusion Comparison of the spermatozoal gene expression profiles with those of the normal tissues identified 8998 differentially expressed probes, among which 25 genes were up-regulated by over 200 folds in the sperms. Comparison of the gene expression profiles between the oocytes and normal tissues resulted in the identification of 8981 differentially expressed probes. Of the 1709 up-regulated genes in the sperm with a ratio>5, 1218 genes showed similar expressions in the oocytes and the normal tissues, and 129 were up-regulated and 362 down-regulated in the oocytes. The 362 genes up-regulated in the sperms but down-regulated in the oocytes were involved mainly in protein modification and metabolism and nucleic acid metabolism, but very few participated in the intracellular signaling pathways. Numerous transcriptional factors containing the KRAB domain and receptor-independent serine/threonine kinase were specifically overexpressed in sperms, and the a very high proportion of the genes specifically overexpressed in the sperms coincided with the overexpressed genes in the neural stem cells and embryonic stem cells. The genes involved in the glycolysis were down-regulated in the sperms. These findings in the genes specifically expressed in the sperms by data mining using bioinformatic methods may provide better insight into the molecular characteristics of the sperms.更多还原