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

• Published in: Asian journal of andrology Vol. 13; no. 2; pp. 342 - 346
• Main Authors: Nanassy, Laszlo, Carrell, Douglas T
• Format: Journal Article
• Language: English
• Published: China Medknow Publications & Media Pvt. Ltd 01.03.2011; Nature Publishing Group
• Subjects: Base Sequence; Bisulfite; Cyclic AMP response element modulator; Cyclic AMP Response Element Modulator - genetics; DNA Methylation; DNA Primers - genetics; DNA甲基化; Epigenesis, Genetic; Genomic Imprinting; Homeodomain Proteins - genetics; Humans; Infertility; Infertility, Male - genetics; Infertility, Male - metabolism; Male; MicroRNAs - genetics; Nanog; Nanog Homeobox Protein; Oct-4 protein; Octamer Transcription Factor-3 - genetics; Pilot Projects; Promoter Regions, Genetic; Promoters; protamine; Protamines - metabolism; Short Communication; six gene; SOXB1 Transcription Factors - genetics; Sperm; Spermatozoa - metabolism; 印迹基因; 基因启动子; 男性不育; 鱼精蛋白
• DOI: 10.1038/aja.2010.160
• ISSN: 1008-682X; 1745-7262

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.