Identification of ten novel genes involved in human spermatogenesis by microarray analysis of testicular tissue
Identification of ten novel genes involved in human spermatogenesis by microarray analysis of testicular tissue
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DOI：
10.1016/j.fertnstert.2006.04.039
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发表时间：
2006-12-01
影响因子：
6.7
通讯作者：
Kuo, Pao-Lin
中科院分区：
文献类型：
--
作者：
Lin, Ying-Hung;Lin, Yung-Ming;Kuo, Pao-Lin
目的：为了鉴定不育男性睾丸组织中下调的新基因。设计：前瞻性研究。设置：大学生殖诊所和遗传实验室。患者：9例正常精子发生患者，15例成熟停滞（MA）或支持细胞综合征（SCOS）患者。干预：将具有相同组织学的患者的睾丸样本合并用于互补DNA（cDNA）微阵列分析。主要结果测量：新的下调基因。总共有300个基因在SCOS或MA样品中显著下调，并鉴定了10个新的不育相关基因。在这10个新基因中，6个基因（Hs.126780、Hs.553658、Hs.274135、Hs.268122、Hs.531701和Hs.171130）编码具有可预测功能结构域的蛋白质，并且所有这些功能结构域被认为与精子发生和/或精子发生相关。相反，其他4个基因（Hs.351582、Hs.407480、Hs.552781和Hs.355570）不包含已知的功能结构域。两个基因（Hs.407480和Hs.552781）缺乏小鼠直向同源物。大多数新基因在小鼠和人类中都表现出睾丸特异性表达模式。逆转录-聚合酶链反应（RT-PCR）结果显示，这些新基因在小鼠睾丸中的信使核糖核酸（mRNA）表达具有3种不同的发育阶段依赖性。结论：这10个新基因为阐明人类精子发生的新途径提供了靶点。
Objective: To identify novel genes that are down-regulated in the testicular tissue of infertile men.Design: Prospective study.Setting: University-based reproductive clinics and genetic laboratory.Patients: Nine patients with normal spermatogenesis, and 15 patients with maturation arrest (MA) or Sertoli cell-only syndrome (SCOS).Intervention: Testicular samples of patients with the same histology were pooled for complementary DNA (cDNA) microarray analysis.Main Outcome Measure: Novel, down-regulated genes.Results: In total, 300 genes were significantly down-regulated in SCOS or MA samples, and 10 novel sterility-related genes were identified. Of the 10 novel genes, 6 genes (Hs.126780, Hs.553658, Hs.274135, Hs.268122, Hs.531701, and Hs.171130) encode proteins with predictable functional domains, and all these functional domains are believed to correlate with spermatogenesis and/or spermiogenesis. Conversely, the other 4 genes (Hs.351582, Hs.407480, Hs.552781, and Hs.355570) do not encompass known functional domains. Two genes (Hs.407480 and Hs.552781) lack mouse orthologues. Most novel genes showed a testis-specific expression pattern in both mice and humans. Reverse transcription-polymerase chain reaction (RT-PCR) showed three distinct types of developmental stage-dependent expressions of message ribonucleic acid (mRNA) for these novel genes in murine testes.Conclusion: These 10 novel genes provide targets to elucidate novel pathways involved in human spermatogenesis.