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Analysis of the methylation pattern of six gene promoters in sperm of men with abnormal protamination

Asian Journal of Andrology 2011年第2期13卷 342-346页

作者： laszlo nanassy Douglas T Carrell Andrology and IVF Laboratories Department of Surgery University of Utah School of Medicine Salt Lake City UT 84108 USA Department of Obstetrics and Gynecology University of Utah School of Medicine Salt Lake City UT 84208 USA Department of Physiology University of Utah School of Medicine Salt Lake City UT 84108 USA

It has recently been shown that alteration of the methylation pattern of imprinted genes is associated with different types of male infertility. The objective of our study was to investigate the methylation pattern of selected gene promoters in sperm of patients with abnormal protamine replacement. The promoters of OCT4, SOX2, NANOG, HOXC11, miR-17and CREMwere analyzed using bisulfite sequencing and the percentage of DNA methylation was compared between patients with an abnormal protamine l/protamine 2 （P1/ P2） ratio and normozoospermic controls. No significant quantitative differences were found between groups of patients with either an abnormally high or low P1/P2 ratio compared to normal controls. However, two individual samples from infertile subjects （2/20, 10%） showed an altered methylation pattern for the CREMgene promoter that was not found in control samples. These two samples had a significantly higher （P〈0.05） promoter methylation （5.58 and 4.23%, respectively） compared to the control group （0.46%）. In conclusion, in our pilot study, extreme methylations defects were not seen broadly in severely infertile men. However, two patients exhibited altered methylation of the CREMgene, which may be either causative or a result of abnormal protmaine replacement.

关键词： Epigenetic gene promoter male infertility methylation protamine

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