Shaoqin Ge, Zhenghui Zhao, Xueqian Zhang, Yuan Hao
Hebei University Health Science Center, Baoding 071000, China; The Institute for Reproductive Medicine of Hebei University, Baoding 071000, China.
Hebei University Health Science Center, Baoding 071000, China.
Yi Chuan. 2014 May;36(5):439-46.
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).
精子发生是一个高度复杂的过程，涉及有丝分裂细胞分裂、减数分裂和精子形成过程，在此期间，独特而广泛的染色质和表观遗传修饰会被重塑，以产生精子特定的表观遗传特征。最近的研究表明，成熟精子中的表观遗传修饰在发育中的胚胎中起着重要作用，其表观遗传模式的改变可能会增加受精失败、胚胎发生功能障碍、早产、低出生体重、先天性异常、围产期死亡率以及体外受精（IVF）受孕婴儿中更频繁出现的其他几种与妊娠相关并发症的风险。在本综述中，我们评估了成熟精子中表观遗传修饰（DNA甲基化、组蛋白保留和修饰、RNA和鱼精蛋白）的重要性及其在胚胎发育中的潜在作用，并阐明表观遗传特征改变与相关疾病之间的关系，为预防和治疗男性不育、评估精子的表观遗传质量以及降低辅助生殖技术（ART）受孕婴儿患表观遗传疾病的风险提供基础信息。
