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15 - The Sperm Epigenome

Published online by Cambridge University Press:  25 May 2017

Christopher J. De Jonge
Affiliation:
University of Minnesota
Christopher L. R. Barratt
Affiliation:
University of Dundee
Ryuzo Yanagimachi
Affiliation:
University of Hawaii, Manoa
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Summary

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The Sperm Cell
Production, Maturation, Fertilization, Regeneration
, pp. 230 - 239
Publisher: Cambridge University Press
Print publication year: 2017

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References

Chen, ZX, Riggs, AD. Maintenance and regulation of DNA methylation patterns in mammals. Biochem Cell Biol 2005; 83: 438–48.CrossRefGoogle ScholarPubMed
Hammoud, SS, Nix, DA, Zhang, H, Purwar, J, Carrell, DT, Cairns, BR. Distinctive chromatin in human sperm packages genes for embryo development. Nature 2009; 460: 473–8.CrossRefGoogle ScholarPubMed
Ward, WS, Coffey, DS. DNA packaging and organization in mammalian spermatozoa: Comparison with somatic cells. Biol Reprod 1991; 44: 569–74.Google ScholarPubMed
Gonzalo, S. Epigenetic alterations in aging. J Appl Physiol (1985) 2010; 109: 586–97.Google Scholar
Pinney, SE. Mammalian non-CpG methylation: Stem cells and beyond. Biology (Basel) 2014; 3: 739–51.Google ScholarPubMed
Riggs, AD, Pfeifer, GP. X-chromosome inactivation and cell memory. Trends Genet 1992; 8: 169–74.CrossRefGoogle ScholarPubMed
Razin, A, Cedar, H. DNA methylation and genomic imprinting. Cell 1994; 77: 473–6.CrossRefGoogle ScholarPubMed
Neumann, B, Barlow, DP. Multiple roles for DNA methylation in gametic imprinting. Curr Opin Genet Dev 1996; 6: 159–63.CrossRefGoogle ScholarPubMed
Eden, S, Cedar, H. Role of DNA methylation in the regulation of transcription. Curr Opin Genet Dev 1994; 4: 255–9.CrossRefGoogle ScholarPubMed
Okano, M, Bell, DW, Haber, DA, Li, E. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell 1999; 99: 247–57.CrossRefGoogle Scholar
Bestor, TH. Activation of mammalian DNA methyltransferase by cleavage of a Zn binding regulatory domain. EMBO J 1992; 11: 2,611–7.CrossRefGoogle ScholarPubMed
Lei, H, Oh, SP, Okano, M, Juttermann, R, Goss, KA, Jaenisch, R et al. De novo DNA cytosine methyltransferase activities in mouse embryonic stem cells. Development 1996; 122: 3,195205.CrossRefGoogle ScholarPubMed
Bashtrykov, P, Jankevicius, G, Smarandache, A, Jurkowska, RZ, Ragozin, S, Jeltsch, A. Specificity of Dnmt1 for methylation of hemimethylated CpG sites resides in its catalytic domain. Chem Biol 2012; 19: 572–8.CrossRefGoogle ScholarPubMed
Krausz, C, Sandoval, J, Sayols, S, Chianese, C, Giachini, C, Heyn, H et al. Novel insights into DNA methylation features in spermatozoa: Stability and peculiarities. PLoS One 2012; 7: e44479.CrossRefGoogle ScholarPubMed
Jenkins, TG, Aston, KI, Trost, C, Farley, J, Hotaling, JM, Carrell, DT. Intra-sample heterogeneity of sperm DNA methylation. Mol Hum Reprod 2015; 21: 313–9.CrossRefGoogle ScholarPubMed
Li, E, Bestor, TH, Jaenisch, R. Targeted mutation of the DNA methyltransferase gene results in embryonic lethality. Cell 1992; 69: 915–26.CrossRefGoogle ScholarPubMed
Panning, B, Jaenisch, R. DNA hypomethylation can activate Xist expression and silence X-linked genes. Genes Dev 1996; 10: 1,991–2,002.CrossRefGoogle ScholarPubMed
Walsh, CP, Chaillet, JR, Bestor, TH. Transcription of IAP endogenous retroviruses is constrained by cytosine methylation. Nat Genet 1998; 20: 116–7.CrossRefGoogle ScholarPubMed
Kaneda, M, Okano, M, Hata, K, Sado, T, Tsujimoto, N, Li, E et al. Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting. Nature 2004; 429: 900–3.CrossRefGoogle Scholar
La Salle, S, Oakes, CC, Neaga, OR, Bourc'his, D, Bestor, TH, Trasler, JM. Loss of spermatogonia and wide-spread DNA methylation defects in newborn male mice deficient in DNMT3L. BMC Dev Biol 2007; 7: 104.CrossRefGoogle ScholarPubMed
Pacheco, SE, Houseman, EA, Christensen, BC, Marsit, CJ, Kelsey, KT, Sigman, M et al. Integrative DNA methylation and gene expression analyses identify DNA packaging and epigenetic regulatory genes associated with low motility sperm. PLoS One 2011; 6: e20280.CrossRefGoogle ScholarPubMed
Navarro-Costa, P, Nogueira, P, Carvalho, M, Leal, F, Cordeiro, I, Calhaz-Jorge, C et al. Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm. Hum Reprod 2011; 25: 2,647–54.Google Scholar
Wu, W, Shen, O, Qin, Y, Niu, X, Lu, C, Xia, Y et al. Idiopathic male infertility is strongly associated with aberrant promoter methylation of methylenetetrahydrofolate reductase (MTHFR). PLoS One 2011; 5: e13884.CrossRefGoogle Scholar
Nanassy, L, Carrell, DT. Abnormal methylation of the promoter of CREM is broadly associated with male factor infertility and poor sperm quality but is improved in sperm selected by density gradient centrifugation. Fertil Steril 2011; 95: 2,310–4.CrossRefGoogle ScholarPubMed
Jenkins, TG, Aston, KI, Meyer, TD, Hotaling, JM, Shamsi, MB, Johnstone, EB et al. Decreased fecundity and sperm DNA methylation patterns. Fertil Steril 2016; 105(1), 51–7.CrossRefGoogle ScholarPubMed
Benchaib, M, Braun, V, Ressnikof, D, Lornage, J, Durand, P, Niveleau, A et al. Influence of global sperm DNA methylation on IVF results. Hum Reprod 2005; 20: 768–73.CrossRefGoogle ScholarPubMed
Aston, KI, Uren, PJ, Jenkins, TG, Horsager, A, Cairns, BR, Smith, AD et al. Aberrant sperm DNA methylation predicts male fertility status and embryo quality. Fertil Steril 2015; 104: 1,388–97 e5.CrossRefGoogle ScholarPubMed
Du, Y, Li, M, Chen, J, Duan, Y, Wang, X, Qiu, Y et al. Promoter targeted bisulfite sequencing reveals DNA methylation profiles associated with low sperm motility in asthenozoospermia. Hum Reprod 2016; 31: 2433.CrossRefGoogle ScholarPubMed
Hammoud, SS, Low, DH, Yi, C, Carrell, DT, Guccione, E, Cairns, BR. Chromatin and transcription transitions of mammalian adult germline stem cells and spermatogenesis. Cell Stem Cell 2014; 15: 239–53.CrossRefGoogle ScholarPubMed
Balhorn, R. The protamine family of sperm nuclear proteins. Genome Biol 2007; 8: 227.CrossRefGoogle ScholarPubMed
Oliva, R, Dixon, GH. Vertebrate protamine genes and the histone-to-protamine replacement reaction. Prog Nucleic Acid Res Mol Biol 1991; 40: 2594.CrossRefGoogle ScholarPubMed
Balhorn, R, Reed, S, Tanphaichitr, N. Aberrant protamine 1/protamine 2 ratios in sperm of infertile human males. Experientia 1988; 44: 52–5.CrossRefGoogle ScholarPubMed
Hecht, NB. Regulation of ‘haploid expressed genes’ in male germ cells. J Reprod Fertil 1990; 88: 679–93.Google ScholarPubMed
Oliva, R, Dixon, GH. Vertebrate protamine gene evolution. I. Sequence alignments and gene structure. J Mol Evol 1990; 30: 333–46.CrossRefGoogle ScholarPubMed
Dadoune, JP. The nuclear status of human sperm cells. Micron 1995; 26: 323–45.CrossRefGoogle ScholarPubMed
Jenuwein, T, Allis, CD. Translating the histone code. Science 2001; 293: 1,074–80.CrossRefGoogle ScholarPubMed
Lachner, M, Jenuwein, T. The many faces of histone lysine methylation. Curr Opin Cell Biol 2002; 14: 286–98.CrossRefGoogle ScholarPubMed
Baarends, WM, Wassenaar, E, van der Laan, R, Hoogerbrugge, J, Sleddens-Linkels, E, Hoeijmakers, JH et al. Silencing of unpaired chromatin and histone H2A ubiquitination in mammalian meiosis. Mol Cell Biol 2005; 25: 1,041–53.CrossRefGoogle ScholarPubMed
Zhu, B, Zheng, Y, Pham, AD, Mandal, SS, Erdjument-Bromage, H, Tempst, P et al. Monoubiquitination of human histone H2B: the factors involved and their roles in HOX gene regulation. Mol Cell 2005; 20: 601–11.CrossRefGoogle ScholarPubMed
Gatewood, JM, Cook, GR, Balhorn, R, Schmid, CW, Bradbury, EM. Isolation of four core histones from human sperm chromatin representing a minor subset of somatic histones. J Biol Chem 1990; 265: 20,662–6.CrossRefGoogle ScholarPubMed
Fenic, I, Sonnack, V, Failing, K, Bergmann, M, Steger, K. In vivo effects of histone-deacetylase inhibitor trichostatin-A on murine spermatogenesis. J Androl 2004; 25: 811–8.CrossRefGoogle ScholarPubMed
Okada, Y, Scott, G, Ray, MK, Mishina, Y, Zhang, Y. Histone demethylase JHDM2A is critical for Tnp1 and Prm1 transcription and spermatogenesis. Nature 2007; 450: 119–23.CrossRefGoogle ScholarPubMed
Tanphaichitr, N, Sobhon, P, Taluppeth, N, Chalermisarachai, P. Basic nuclear proteins in testicular cells and ejaculated spermatozoa in man. Exp Cell Res 1978; 117: 347–56.CrossRefGoogle ScholarPubMed
Wykes, SM, Krawetz, SA. The structural organization of sperm chromatin. J Biol Chem 2003; 278: 29,471–7.CrossRefGoogle ScholarPubMed
Arpanahi, A, Brinkworth, M, Iles, D, Krawetz, SA, Paradowska, A, Platts, AE et al. Endonuclease-sensitive regions of human spermatozoal chromatin are highly enriched in promoter and CTCF binding sequences. Genome Res 2009; 19: 1,338–49.CrossRefGoogle ScholarPubMed
Hammoud, SS, Nix, DA, Hammoud, AO, Gibson, M, Cairns, BR, Carrell, DT. Genome-wide analysis identifies changes in histone retention and epigenetic modifications at developmental and imprinted gene loci in the sperm of infertile men. Hum Reprod 2011; 26: 2,558–69.CrossRefGoogle ScholarPubMed
Brinkmeier, ML, Geister, KA, Jones, M, Waqas, M, Maillard, I, Camper, SA. The histone methyltransferase gene absent, small, or homeotic discs-1 like is required for normal hox gene expression and fertility in mice. Biol Reprod 2015; 93: 121.CrossRefGoogle ScholarPubMed
Haji Ebrahim Zargar, H, Mohseni Meybodi, A, Sabbaghian, M, Shahhoseini, M, Asadpor, U, Sadighi Gilani, MA et al. Association of two polymorphisms in H2B.W gene with azoospermia and severe oligozoospermia in an Iranian population. Int J Fertil Steril 2015; 9: 205–14.Google Scholar
Lee, MG, Wynder, C, Cooch, N, Shiekhattar, R. An essential role for CoREST in nucleosomal histone 3 lysine 4 demethylation. Nature 2005; 437: 432–5.CrossRefGoogle ScholarPubMed
Glaser, S, Lubitz, S, Loveland, KL, Ohbo, K, Robb, L, Schwenk, F et al. The histone 3 lysine 4 methyltransferase, Mll2, is only required briefly in development and spermatogenesis. Epigenet Chromat 2009; 2: 5.CrossRefGoogle ScholarPubMed
Fenic, I, Hossain, HM, Sonnack, V, Tchatalbachev, S, Thierer, F, Trapp, J et al. In vivo application of histone deacetylase inhibitor trichostatin-a impairs murine male meiosis. J Androl 2008; 29: 172–85.CrossRefGoogle ScholarPubMed
Rassoulzadegan, M, Grandjean, V, Gounon, P, Vincent, S, Gillot, I, Cuzin, F. RNA-mediated non-mendelian inheritance of an epigenetic change in the mouse. Nature 2006; 441: 469–74.CrossRefGoogle ScholarPubMed
Dadoune, JP. Spermatozoal RNAs: what about their functions? Microsc Res Technol 2009; 72: 536–51.CrossRefGoogle ScholarPubMed
Miller, D, Ostermeier, GC, Krawetz, SA. The controversy, potential and roles of spermatozoal RNA. Trends Mol Med 2005; 11: 156–63.CrossRefGoogle ScholarPubMed
Jodar, M, Selvaraju, S, Sendler, E, Diamond, MP, Krawetz, SA, Reproductive medicine N. The presence, role and clinical use of spermatozoal RNAs. Hum Reprod Update 2013; 19: 604–24.CrossRefGoogle Scholar
Liu, WM, Pang, RT, Chiu, PC, Wong, BP, Lao, K, Lee, KF et al. Sperm-borne microRNA-34c is required for the first cleavage division in mouse. Proc Natl Acad Sci USA 2012; 109: 490–4.Google Scholar
Yuan, S, Tang, C, Zhang, Y, Wu, J, Bao, J, Zheng, H et al. mir-34b/c and mir-449a/b/c are required for spermatogenesis, but not for the first cleavage division in mice. Biol Open 2015; 4: 212–23.CrossRefGoogle Scholar
Cui, L, Fang, L, Shi, B, Qiu, S, Ye, Y. Spermatozoa micro ribonucleic acid-34c level is correlated with intracytoplasmic sperm injection outcomes. Fertil Steril 2015; 104: 312–7 e1.CrossRefGoogle ScholarPubMed
Fagerlind, M, Stalhammar, H, Olsson, B, Klinga-Levan, K. Expression of miRNAs in bull spermatozoa correlates with fertility rates. Reprod Domest Anim 2015; 50: 587–94.CrossRefGoogle ScholarPubMed
Wang, B, Wang, Y, Zhang, M, Du, Y, Zhang, Y, Xing, X et al. MicroRNA-34c expression in donor cells influences the early development of somatic cell nuclear transfer bovine embryos. Cell Reprogram 2014; 16: 418–27.CrossRefGoogle ScholarPubMed
Tscherner, A, Gilchrist, G, Smith, N, Blondin, P, Gillis, D, LaMarre, J. MicroRNA-34 family expression in bovine gametes and preimplantation embryos. Reprod Biol Endocrinol 2014; 12: 85.CrossRefGoogle ScholarPubMed
Abu-Halima, M, Hammadeh, M, Backes, C, Fischer, U, Leidinger, P, Lubbad, AM et al. Panel of five microRNAs as potential biomarkers for the diagnosis and assessment of male infertility. Fertil Steril 2014; 102: 989–97 e1.CrossRefGoogle ScholarPubMed
Jodar, M, Sendler, E, Moskovtsev, SI, Librach, CL, Goodrich, R, Swanson, S et al. Absence of sperm RNA elements correlates with idiopathic male infertility. Sci Transl Med 2015; 7: 295re6.CrossRefGoogle ScholarPubMed
Surani, MA. Imprinting and the initiation of gene silencing in the germ line. Cell 1998; 93: 309–12.CrossRefGoogle ScholarPubMed

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