Single-nucleotide polymorphisms and mutation analyses of the TNP1 and TNP2 genes of fertile and infertile human male populations.
Single-nucleotide polymorphisms and mutation analyses of the TNP1 and TNP2 genes of fertile and infertile human male populations.
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DOI：
10.2164/jandrol.05069
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发表时间：
2005-11
影响因子：
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通讯作者：
Y. Miyagawa;Hiromi Nishimura;A. Tsujimura;Y. Matsuoka;K. Matsumiya;A. Okuyama;Y. Nishimune;Hiromitsu Tanaka
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文献类型：
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作者：
Y. Miyagawa;Hiromi Nishimura;A. Tsujimura;Y. Matsuoka;K. Matsumiya;A. Okuyama;Y. Nishimune;Hiromitsu Tanaka
此前，我们研究了鱼精蛋白基因变异与人类男性不育的关系。在这项研究中，我们展示了不育男性患者的过渡核蛋白基因（TNPs）的特异性变异性。过渡核蛋白（TPs）是替代核组蛋白的主要核蛋白，在人类精子发生过程中最终被精蛋白取代。对282例不育男性患者和270例（TNP1）、266例（TNP2）已证实可育男性志愿者的TNP1和TNP2基因序列进行分析，发现TNP2基因开放阅读框中存在5个氨基酸取代性单核苷酸多态性（snp）。另一方面，在不育男性TNP1基因的5'-启动子区域发现了包含cAMP反应元件（CRE）转录因子识别位点的15个核苷酸的缺失。这种缺失减少了TNP1的表达，可能导致人类男性不育。
Previously, we examined the relationship between protamine gene variations and human male infertility. In this study, we show specific variability in the transition nuclear protein genes (TNPs) of sterile male patients. Transition nuclear proteins (TPs) are major nuclear proteins that replace nuclear histones, leading to eventual substitution by protamines during human spermiogenesis. Analysis of the human TNP1 and TNP2 gene sequences in 282 sterile male patients and 270 (TNP1) and 266 (TNP2) proven-fertile male volunteers revealed 5 amino acid substitution-causing single nucleotide polymorphisms (SNPs) in the open-reading frame of the TNP2 gene. On the other hand, a deletion of 15 nucleotides, which encompassed the recognition site for the cAMP response element (CRE) transcription factor, was found in the 5'-promoter region of the TNP1 gene in infertile men. This deletion reduces TNP1 expression and may cause human male infertility.