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
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
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 . DOI: 10.3724/SP.J.1005.2014.0439
[1] 刘浩, 耿春惠, 李瑾, 熊礼宽. 精子表观遗传学调控与男性不育. 中国男科学杂志, 2013, 27(3): 69–72. <\p>
[2] Carrell DT. Epigenetics of the male gamete. Fertil Steril, 2012, 97(2): 267–274. <\p>
[3] Carrell DT, Hammoud SS. The human sperm epigenome and its potential role in embryonic development. Mol Hum Reprod, 2010, 16(1): 37–47. <\p>
[4] Garrido N, Remohi J, Martinez-Conejero JA, Gar-cia-Herrero S, Pellicer A, Meseguer M. Contribution of sperm molecular features to embryo quality and assisted reproduction success. Reprod Biomed Online, 2008, 17(6): 855–865. <\p>
[5] 沈圣, 屈彦纯, 张军. 下一代测序技术在表观遗传学研究中的重要应用及进展. 遗传, 2014, 36(3): 256–275. <\p>
[6] 王瑞娴, 徐建红. 基因组DNA甲基化及组蛋白甲基化. 遗传, 2014, 36(3): 191–199. <\p>
[7] 马克学, 马克世, 席兴字. 表观遗传跨代继承表型研究进展. 遗传, 2014, 36: 1–11. <\p>
[8] 纪梓良, 段永刚, 蔡志明. 精子DNA甲基化异常与男性不育. 医学分子生物学杂志, 2011, 8(5): 455–460. <\p>
[9] Boyer LA, Lee TI, Cole MF, Johnstone SE, Levine SS, Zucker JP, Guenther MG, Kumar RM, Murray HL, Jenner RG, Gifford DK, Melton DA, Jaenisch R, Young RA. Core transcriptional regulatory circuitry in human embryonic stem cells. Cell, 2005, 122(6): 947–956. <\p>
[10] Jenkins TG, Carrell DT. Dynamic alterations in the pater-nal epigenetic landscape following fertilization. Front Genet, 2012, 3: 143. <\p>
[11] Ma JY, Liang XW, Schatten H, Sun QY. Active DNA de-methylation in mammalian preimplantation embryos: new insights and new perspectives. Mol Hum Repord, 2012, 18(7): 333–340. <\p>
[12] 杨晓丹, 韩威, 刘峰. DNA甲基化与脊椎动物胚胎发育. 遗传, 2012, 34(9): 1108–1113. <\p>
[13] Kaneda M, Okano M, Hata K, Sado T, Tsujimoto N, Li E, Sasaki H. Essential role for de novo DNA methyltransferase Dnmt3a in paternaland maternal imprinting. Na-ture, 2004, 429(6994): 900–903. <\p>
[14] Lei H, Oh SP, Okano M, Jüttermann R, Goss KA, Jaenisch R, Li E. De novo DNA cytosine methyltransferase activi-ties in mouse embryonic stem cells. Development, 1996, 122(10): 3195–3205. <\p>
[15] Kelly TL, Li E, Trasler JM. 5-aza-2′-deoxycytidine in-duces alterations in murine spermatogenesis and preg-nancy outcome. J Androl, 2003, 24(6): 822–830. <\p>
[16] Benchaib M, Braun V, Ressnikof D, Lornage J, Durand P, Niveleau A, Guérin JF. Influence of global sperm DNA methylation on IVF results. Hum Reprod, 2005, 20(3): 768–773. <\p>
[17] Kobayashi H, Sato A, Otsu E, Hiura H, Tomatsu C, Utsu-nomiya T, Sasaki H, Yaegashi N, Arima T. Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients. Hum Mol Genet, 2007, 16(21): 2542–2551. <\p>
[18] Kobayashi H, Hiura H, John RM, Sato A, Otsu E, Koba-yashi N, Suzuki R, Suzuki F, Hayashi C, Utsunomiya T, Yaegashi N, Arima T. DNA methylation errors at im-printed loci after assisted conception originate in the pa-rental sperm. Eur J Hum Genet, 2009, 17(12): 1582–1591. <\p>
[19] Buiting K, Groß S, Lich C, Gillessen-Kaesbach G, El-Maarri O, Horsthemke B. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 pa-tients with an imprinting defect. Am J Hum Genet, 2003, 72(3): 571–577. <\p>
[20] 宋博研, 朱卫国. 组蛋白甲基化修饰效应分子的研究进展. 遗传, 2011, 33(4): 285–292. <\p>
[21] 葛少钦, 李建忠, 张晓静. 精子发生过程中组蛋白甲基化和乙酰化. 遗传, 2011, 33(9): 939–946. <\p>
[22] 王维, 孟智启, 石放雄. 组蛋白修饰及其生物学效应. 遗传, 2012, 34(7): 810–818. <\p>
[23] Jenuwein T, Allis CD. Translating the histone code. Sci-ence, 2001, 293(5532): 1074–1080. <\p>
[24] Boissonnas CC, Jouannet P, Jammes H. Epigenetic disor-ders and male subfertility. Fertil Steril, 2013, 99(3): 624– 631. <\p>
[25] Kouzarides T. Chromatin modifications and their function. Cell, 2007, 128(4): 693–705. <\p>