BACKGROUND:Sperm epigenetics is an emerging area of study supported by observations reporting that abnormal sperm DNA methylation patterns are associated with infertility. Here, we explore cytosine-guanine dinucleotides (CpGs) methylation in high (HM) and low motile (LM) Bos taurus sperm populations separated by Percoll gradient. HM and LM methylation patterns were investigated by bisulfite sequencing. RESULTS:Comparison between HM and LM sperm populations revealed that methylation variation affects genes involved in chromatin organization. CpG Islands (CGIs), were highly remodelled. A high proportion of CGIs was found to be methylated at low/intermediate level (20-60%) and associated to the repetitive element BTSAT4 satellite. The low/intermediate level of methylation in BTSAT4 was stably maintained in pericentric regions of chromosomes. BTSAT4 was hypomethylated in HM sperm populations. CONCLUSIONS:The characterization of the epigenome in HM and LM Bos taurus sperm populations provides a first step towards the understanding of the effect of methylation on sperm fertility. Methylation variation observed in HM and LM populations in genes associated to DNA structure remodelling as well as in a repetitive element in pericentric regions suggests that maintenance of chromosome structure through epigenetic regulation is probably crucial for correct sperm functionality.

译文

背景:精子表观遗传学是一个新兴的研究领域,其观察结果表明,精子DNA甲基化异常与不育有关。在这里,我们探索由Percoll梯度分离的高(HM)和低运动(LM)的金牛座精子群体中的胞嘧啶-鸟嘌呤二核苷酸(CpGs)甲基化。亚硫酸氢盐测序研究了HM和LM甲基化模式。
结果:HM和LM精子种群之间的比较表明,甲基化变异影响染色质组织所涉及的基因。 CpG岛(CGI)进行了高度重塑。发现高比例的CGI在低/中水平(20-60%)处被甲基化,并与重复元素BTSAT4卫星相关。 BTSAT4的甲基化水平处于低/中级水平,在染色体的外周中心区域保持稳定。 BTSAT4在HM精子群体中被低甲基化。
结论:HM和LM金牛座的精子群体的表观基因组的表征为迈向了解甲基化对精子繁殖力的影响迈出了第一步。在HM和LM种群中,与DNA结构重塑相关的基因以及周围中心区域的重复元件中观察到的甲基化变化表明,通过表观遗传调控来维持染色体结构可能对正确的精子功能至关重要。

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