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与弱精子症相关的人类精子基因的计算机分析及其在男性不育中的意义。

An in silico analysis of human sperm genes associated with asthenozoospermia and its implication in male infertility.

作者信息

Liu Xue Xia, Cai Li, Liu Fu Jun

机构信息

Central Laboratory.

Department of Pathology, The Affiliated YantaiYuhuangding Hospital of Qingdao University, Yantai, Shandong, People's Republic of China.

出版信息

Medicine (Baltimore). 2018 Dec;97(49):e13338. doi: 10.1097/MD.0000000000013338.

Abstract

Asthenozoospermia is the most common clinical symptom of male infertility. Molecular markers associated with asthenozoospermia spermatozoa are scarcely identified. The objective of this study was to screen the differentially expressed genes (DEGs) in asthenozoospermia spermatozoa and assess the underlying bioinformatics roles in regulation of sperm quality.Based on gene expression omnibus (GEO) database, the GSE22331, GSE1133, and GSE4193 expression profile data were downloaded. The DEGs of asthenozoospermia spermatozoa were identified. Germ cell specific genes in DEGs were further screened. Then, gene ontology (GO) and over-representation analysis of DEGs were performed, followed by protein-protein interaction (PPI) network analysis. Expressions of selected genes of TEX11, ADAMTS5, ASRGL1, GMCL1, PGK2, KLHL10 in normozoospermia and asthenozoospermia spermatozoa were identified using real time Reverse Transcription-Polymerase Chain Reaction (RT-PCR).A total of 1323 DEGs were identified, including 1140 down-regulated genes. Twenty one and 96 down-regulated genes were especially expressed in spermatogonia and round spermatids, suggesting their testicular origins and influences on sperm quality. Bioinformatics analysis showed enriched functions of ubiquitin-like protein transferase or protein binding activities in down-regulated genes. Expressions of selected genes were validated by RT-PCR, which was consistent with bioinformatical results.The present study provided a novel insight into the understanding of sperm quality, and a potential method and dataset for the diagnosis and assessment of sperm quality in the event of male infertility.

摘要

弱精子症是男性不育最常见的临床症状。与弱精子症精子相关的分子标志物鲜有被鉴定出来。本研究的目的是筛选弱精子症精子中差异表达基因(DEGs),并评估其在精子质量调控中的潜在生物信息学作用。基于基因表达综合数据库(GEO),下载了GSE22331、GSE1133和GSE4193表达谱数据。鉴定出弱精子症精子的DEGs。进一步筛选DEGs中的生殖细胞特异性基因。然后,对DEGs进行基因本体论(GO)和过度表达分析,随后进行蛋白质-蛋白质相互作用(PPI)网络分析。使用实时逆转录-聚合酶链反应(RT-PCR)鉴定正常精子症和弱精子症精子中TEX11、ADAMTS5、ASRGL1、GMCL1、PGK2、KLHL10等选定基因的表达。共鉴定出1323个DEGs,其中包括1140个下调基因。21个和96个下调基因在精原细胞和圆形精子细胞中特异性表达,表明它们起源于睾丸并对精子质量有影响。生物信息学分析显示下调基因中泛素样蛋白转移酶或蛋白质结合活性的功能富集。RT-PCR验证了选定基因的表达,这与生物信息学结果一致。本研究为理解精子质量提供了新的见解,并为男性不育情况下精子质量的诊断和评估提供了一种潜在的方法和数据集。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f6d/6310515/638e67ded4d0/medi-97-e13338-g001.jpg

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