Jenkins Timothy G, Aston Kenneth I, James Emma R, Carrell Douglas T
a Andrology and IVF Laboratories, Department of Surgery , University of Utah School of Medicine , Salt Lake City , Utah , USA.
b Department of Obstetrics and Gynecology , University of Utah School of Medicine , Salt Lake City , Utah , USA.
Syst Biol Reprod Med. 2017 Apr;63(2):69-76. doi: 10.1080/19396368.2016.1274791. Epub 2017 Feb 14.
The mammalian sperm contains a highly unique and specialized epigenetic landscape that offers a great degree of interesting research opportunities. One key discriminating feature of the mature sperm epigenome is that it, in theory, represents both remnant marks used throughout spermatogenesis to generate sperm cells competent to perform their function, but also marks that appear to be useful beyond fertilization. Key questions must be asked about the utility of these marks and the multiple purposes that may be served. It is this unique epigenetic landscape that has driven some labs to begin to study the links between aberrant sperm epigenetic patterns and various forms of infertility, from idiopathic to alterations in sperm motility, morphology, and viability and fertilization capacity. Because of the unique nature of the sperm epigenome and the patterns found in mature sperm that appear to reflect perturbations in spermatogenesis that may ultimately have effect on pregnancy outcomes, some researchers believe that these marks may provide predictive insight that can be exploited. Indeed, there is emerging data suggesting that the predictive power of DNA methylation and RNA signatures in sperm likely exceeds that which can be found with traditional assessments of male infertility. This review will focus on the utilization of the sperm epigenome as a potential diagnostic tool in the context of male infertility, as well as the potential difficulties associated with such an approach.
哺乳动物的精子含有高度独特和专门的表观遗传格局，这提供了大量有趣的研究机会。成熟精子表观基因组的一个关键区别特征是，理论上它既代表了整个精子发生过程中用于产生有能力执行其功能的精子细胞的残余标记，也代表了受精后似乎有用的标记。必须对这些标记的效用以及可能服务的多种目的提出关键问题。正是这种独特的表观遗传格局促使一些实验室开始研究异常精子表观遗传模式与各种形式不育之间的联系，从特发性不育到精子活力、形态、生存能力和受精能力的改变。由于精子表观基因组的独特性质以及在成熟精子中发现的模式似乎反映了精子发生过程中的扰动，而这些扰动最终可能对妊娠结局产生影响，一些研究人员认为这些标记可能提供可利用的预测性见解。事实上，新出现的数据表明，精子中DNA甲基化和RNA特征的预测能力可能超过传统男性不育评估所能发现的能力。本综述将重点关注精子表观基因组作为男性不育背景下潜在诊断工具的应用，以及与这种方法相关的潜在困难。
