DNA methylation levels of imprinted and nonimprinted genes DMRs associated with defective human spermatozoa
DNA methylation levels of imprinted and nonimprinted genes DMRs associated with defective human spermatozoa
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DOI：
10.1111/and.12535
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发表时间：
2016-11
期刊：
影响因子：
2.4
通讯作者：
J. Xu;A. Zhang;Z. Zhang;P. Wang;Y. Qian;L. He;H. Shi;Q. Xing;J. Du
中科院分区：
文献类型：
--
作者：
J. Xu;A. Zhang;Z. Zhang;P. Wang;Y. Qian;L. He;H. Shi;Q. Xing;J. Du
弱精子症是男性不育的常见原因。最近的研究表明，精子DNA甲基化异常与男性不育有显著的相关性。本研究的目的是评估单因素AS不育男性精子中已知印记基因（MEST、GNAS和H19）、新印记基因（FAM 50 B）和非印记基因（LINE‐1和P16）DMR的DNA甲基化变化。精液样本来自46名AS患者和49名年龄匹配的正常对照。通过MassARRAY甲基化定量分析确定检测基因DMR的DNA甲基化水平。AS患者P16和MEST DMR区甲基化水平显著低于对照组（6.51 ± 0.32%，7.66 ± 0.40%，P < 0.01）。AS组P16 DMR的6个CpG位点和MEST、GNAS、FAM 50 B和LINE-1 DMR的1个CpG位点甲基化水平低于对照组。这是第一次，这里提供的数据表明，P16 DMR的甲基化缺陷增加可能与精子活力低有关。这项研究提供了低精子活力不育男性与MEST、LINE-1、GNAS和FAM 50 B DMR的异常DNA甲基化之间的潜在关联。
Asthenozoospermia (AS) is a common cause of human male infertility. Recent studies have shown significant associations of aberrant DNA methylation in spermatozoa with male infertility. The aims of the this investigation were to assess the changes in DNA methylation of known imprinted genes (MEST, GNAS and H19), novel imprinted gene (FAM50B) and nonimprinted genes (LINE‐1 and P16) DMRs in the spermatozoa of infertile men with single‐factor AS. Semen samples were obtained from 46 AS patients and 49 age‐matched normal controls. DNA methylation levels of detected genes DMR were determined by MassARRAY quantitative methylation analysis. The average methylation level at the P16 and MEST DMRs was significantly lower in AS patients than in controls (patients 6.51 ± 0.32%, controls 7.66 ± 0.40%, P < 0.01). The methylation level of 6 CpG sites of P16 DMR, and 1 CpG site of MEST, GNAS, FAM50B and LINE‐1 DMRs, was lower in AS group than in control group. For the first time, the data presented here suggest that increased methylation defects of P16 DMR may be associated with low sperm motility. This study provides the potential association between low sperm motility infertile men and the aberrant DNA methylation of MEST, LINE‐1, GNAS and FAM50B DMRs.