精子表观遗传修饰及其在胚胎发育过程中的潜在作用
收稿日期: 2014-02-09
修回日期: 2014-03-27
网络出版日期: 2014-05-25
基金资助
河北省自然科学基金项目(编号：H2013201259)和河北省2013留学回国人员科研活动项目(编号：C2013005002)资助
Epigenetic modifications in human spermatozoon and its potential role in embryonic development
Received date: 2014-02-09
Revised date: 2014-03-27
Online published: 2014-05-25
精子发生(Spermatogenesis) 是一高度复杂的过程, 包括有丝分裂、减数分裂和精子形成。精母细胞经过独特而广泛的染色质与表观遗传修饰重塑之后, 最终分化产生了具有特定表观遗传修饰的精子。最近研究表明, 成熟精子中的表观遗传修饰在发育的胚胎中发挥了重要作用, 其表观遗传模式的改变会导致某些疾病风险提高, 如受精失败、胚胎发生机能障碍、早产、出生体重低、先天畸形、新生儿死亡以及其他在辅助生殖技术后代中发现的发生频率较高的妊娠相关并发症。文章通过评价成熟精子中DNA甲基化、保留组蛋白修饰、RNAs和精蛋白等表观遗传修饰的重要意义及其在胚胎发育过程中的潜在作用, 阐述了成熟精子中改变的表观遗传修饰与相关疾病之间的关系, 为不育症的防治、精子表观遗传质量评价以及降低辅助生殖技术后代表观遗传疾病风险等提供基础资料。
葛少钦, 赵峥辉, 张雪倩, 郝媛 . 精子表观遗传修饰及其在胚胎发育过程中的潜在作用[J]. 遗传, 2014 , 36(5) : 439 -446 . DOI: 10.3724/SP.J.1005.2014.0439
Spermatogenesis is a highly complex process involving mitotic cell division, meiosis and the process of spermiogenesis, during which unique and extensive chromatin and epigenetic modifications are remodeled to bring about specific epigenetic profiles for spermatozoa. Recent studies have shown that epigenetic modifications in mature spermatozoon play an important role in the developing embryo and its alterations in epigenetic patterns may increase the risk for fertilization failure, dysfunction of embryogenesis, preterm birth, low birthweight, congenital anomalies, perinatal mortality, and several other pregnancy-related complications seen at a higher frequency in babies conceived by in vitro fertilization (IVF). In this review, we assess the significance of epigenetic modifications (DNA methylation, histone retention and modification, RNAs and protamine) in mature spermatozoon and its potential role in embryonic development, and elucidate the relationship between altered epigenetic profile and associated diseases, providing basic information for preventing and treating male infertility, evaluating the epigenetic quality of sperm and reducing the risk of epigenetic diseases with babies conceived by assisted reproductive technology (ART).
Key words： epigenetic modifications; sperm; embryonic development; diseases
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