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首页> 外文期刊>BMC Medical Genetics >Sequence variations of the EGR4 gene in Korean men with spermatogenesis impairment
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Sequence variations of the EGR4 gene in Korean men with spermatogenesis impairment

机译：男性精子发生障碍男性中EGR4基因的序列变异

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Background Egr4 is expressed in primary and secondary spermatocytes in adult mouse testes and has a crucial role in regulating germ cell maturation. The functional loss of Egr4 blocks spermatogenesis, significantly reducing the number of spermatozoa that are produced. In this study, we examined whether EGR4 variants are present in Korean men with impaired spermatogenesis. Methods A total 170 Korean men with impaired spermatogenesis and 272 normal controls were screened. The coding regions including exon-intron boundaries of EGR4 were sequenced by PCR-direct sequencing method. Results We identified eight sequence variations in the coding region and 3′-UTR regions of the EGR4 gene. Four were nonsynonymous variants (rs771189047, rs561568849, rs763487015, and rs546250227), three were synonymous variants (rs115948271, rs528939702, and rs7558708), and one variant (rs2229294) was localized in the 3′-UTR. Three nonsynonymous variants [c.65_66InsG (p. Cys23Leufs*37), c.236C?>?T (p. Pro79Leu), c.1294G?>?T (p. Val432Leu)] and one synonymous variant [c.1230G?>?A (p. Thr410)] were not detected in controls. To evaluate the pathogenic effects of nonsynonymous variants, we used seven prediction methods. The c.214C?>?A (p. Arg72Ser) and c.236C?>?T (p. Pro79Leu) variants were predicted as “damaging” by SIFT and SNAP2. The c.65_66insG (p. Cys23Leufs*37) variants were predicted as “disease causing” by Mutation Taster, SNPs &GO and SNAP2. The c.867C?>?G (p. Leu289) variants were predicted as “disease causing” only by Mutation Taster. Conclusion To date, this study is the first to screen the EGR4 gene in relation to male infertility. However, our findings did not clearly explain how nonsynonymous EGR4 variations affect spermatogenesis. Therefore, further studies are required to validate the functional impact of EGR4 variations on spermatogenesis.
机译：背景Egr4在成年小鼠睾丸的原代和次生精细胞中表达，在调节生殖细胞的成熟中起关键作用。 Egr4的功能丧失会阻止精子发生，从而显着减少产生的精子数量。在这项研究中，我们检查了在精子发生受损的韩国男性中是否存在EGR4变异体。方法筛选了170名韩国男性精子发生受损的男性和272名正常对照。通过PCR直接测序法对包括EGR4的外显子-内含子边界的编码区进行测序。结果我们确定了EGR4基因的编码区和3'-UTR区的八个序列变异。四个是非同义变体（rs771189047，rs561568849，rs763487015和rs546250227），三个是同义变体（rs115948271，rs528939702和rs7558708），一个变体（rs2229294）位于3'-UTR中。三个非同义变体[c.65_66InsG（p。Cys23Leufs * 37），c.236C？>？T（p。Pro79Leu），c.1294G？>？T（p.Val432Leu）]和一个同义变体[c.1230G？在对照中未检测到>？A（p。Thr410）]。为了评估非同义变体的致病作用，我们使用了七个预测方法。 SIFT和SNAP 2 预测c.214C？>？A（p。Arg72Ser）和c.236C？>？T（p。Pro79Leu）变体为“破坏”。 c.65_66insG（p。Cys23Leufs * 37）变异被突变体试验，SNPs＆GO和SNAP 2 预测为“引起疾病”。 c.867C→> G（p。Leu289）变体仅被突变体突变体预测为“疾病引起”。结论迄今为止，这项研究是首次筛选与男性不育有关的EGR4基因。然而，我们的发现并不能清楚地解释非同义EGR4变异如何影响精子发生。因此，需要进一步的研究来验证EGR4变异对精子发生的功能影响。

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