精子表观遗传修饰及其在胚胎发育过程中的潜在作用

doi:10.3724/SP.J.1005.2014.0439

遗传 ›› 2014, Vol. 36 ›› Issue (5): 439-446.doi: 10.3724/SP.J.1005.2014.0439

精子表观遗传修饰及其在胚胎发育过程中的潜在作用

葛少钦^1,2, 赵峥辉¹, 张雪倩¹, 郝媛¹

1. 河北大学医学部, 保定 071000;
2. 河北大学生殖医学研究所, 保定 071000

收稿日期:2014-02-09 修回日期:2014-03-27 出版日期:2014-05-20 发布日期:2014-05-25
通讯作者: 葛少钦, 博士后, 教授, 研究方向：生殖医学, 动物分子与生化。E-mail: gesq67@sina.com E-mail:gesq67@sina.com
作者简介:葛少钦, 博士后, 教授, 研究方向：生殖医学, 动物分子与生化。E-mail: gesq67@sina.com
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

Shaoqin Ge^1,2, Zhenghui Zhao¹, Xueqian Zhang¹, Yuan Hao¹

1. Hebei University Health Science Center, Baoding 071000, China;
2. The Institute for Reproductive Medicine of Hebei University, Baoding 071000, China

Received:2014-02-09 Revised:2014-03-27 Online:2014-05-20 Published:2014-05-25
Contact: GE Shao-Qin E-mail:gesq67@sina.com

摘要/Abstract

摘要：

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。

关键词: 表观遗传修饰, 精子, 胚胎发育, 疾病

Abstract:

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

中图分类号:

R715.5

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.

Shaoqin Ge, Zhenghui Zhao, Xueqian Zhang, Yuan Hao. Epigenetic modifications in human spermatozoon and its potential role in embryonic development[J]. HEREDITAS(Beijing), 2014, 36(5): 439-446.

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