Epigenetic regulation of oocyte function and developmental potential

Oogenesis

Volumn , Issue , 2013, Pages 151-167

  Dean, Wendy ^a  

^a BABRAHAM INSTITUTE   (United Kingdom)

Author keywords

DNA methylation; Epigenetic; Oocyte; Reprogramming; Transgenerational inheritance

Indexed keywords

EID: 84948118172     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-0-85729-826-3_11     Document Type: Chapter

References (105)

1. Waddington CH. Organisers and genes. Cambridge: Cambridge University Press; 1940.
2. Youngson NA, Whitelaw E. Transgenerational epigenetic effects. Annu Rev Genomics Hum Genet. 2008;9:233-57.
3. Robertson KD, Wolffe AP. DNA methylation in health and disease. Nat Rev Genet. 2000;1:11-9.
4. Hemberger M, Dean W, Reik W. Epigenetic dynamics of stem cells and cell lineage commitment: digging Waddington’s canal. Nat Rev Mol Cell Biol. 2009;10: 526-37.
5. Ahmad K, Henikoff S. The histone variant H3.3 marks active chromatin by replication-independent nucleosome assembly. Mol Cell. 2002;9:1191-200.
6. Ahmad K, Henikoff S. Histone H3 variants specify modes of chromatin assembly. Proc Natl Acad Sci USA. 2002;99 Suppl 4:16477-84.
7. Law JA, Jacobsen SE. Establishing, maintaining and modifying DNA methylation patterns in plants and animals. Nat Rev Genet. 2010;11:204-20.
8. Turner BM. Histone acetylation and an epigenetic code. Bioessays. 2000;22:836-45.
9. Turner BM. Defining an epigenetic code. Nat Cell Biol. 2007;9:2-6.
10. Strahl BD, Allis CD. The language of covalent histone modifications. Nature. 2000;403:41-5.
11. Jenuwein T, Allis CD. Translating the histone code. Science. 2001;293:1074-80.
12. Lachner M, Jenuwein T. The many faces of histone lysine methylation. Curr Opin Cell Biol. 2002;14: 286-98.
13. Schotta G, Lachner M, Sarma K, Ebert A, Sengupta R, Reuter G, et al. A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin. Genes Dev. 2004;18:1251-62.
14. Santenard A, Torres-Padilla ME. Epigenetic reprogramming in mammalian reproduction: contribution from histone variants. Epigenetics. 2009;4:80-4.
15. Perez-Burgos L, Peters AH, Opravil S, Kauer M, Mechtler K, Jenuwein T. Generation and characterization of methyl-lysine histone antibodies. Methods Enzymol. 2004;376:234-54.
16. Reik W, Santos F, Mitsuya K, Morgan H, Dean W. Epigenetic asymmetry in the mammalian zygote and early embryo: relationship to lineage commitment? Philos Trans R Soc Lond B Biol Sci. 2003;358:1403-9, discussion 9.
17. Becker M, Becker A, Miyara F, Han Z, Kihara M, Brown DT, et al. Differential in vivo binding dynamics of somatic and oocyte-specific linker histones in oocytes and during ES cell nuclear transfer. Mol Biol Cell. 2005;16:3887-95.
18. Reik W, Dean W, Walter J. Epigenetic reprogramming in mammalian development. Science. 2001;293: 1089-93.
19. Sasaki H, Matsui Y. Epigenetic events in mammalian germ-cell development: reprogramming and beyond. Nat Rev Genet. 2008;9:129-40.
20. Li E. Chromatin modification and epigenetic reprogramming in mammalian development. Nat Rev Genet. 2002;3:662-73.
21. Santos F, Dean W. Epigenetic reprogramming during early development in mammals. Reproduction. 2004; 127:643-51.
22. McLay DW, Clarke HJ. Remodelling the paternal chromatin at fertilization in mammals. Reproduction. 2003;125:625-33.
23. Monk M, Boubelik M, Lehnert S. Temporal and regional changes in DNA methylation in the embryonic, extraembryonic and germ cell lineages during mouse embryo development. Development. 1987;99: 371-82.
24. Kafri T, Ariel M, Brandeis M, Shemer R, Urven L, McCarrey J, et al. Developmental pattern of genespecific DNA methylation in the mouse embryo and germ line. Genes Dev. 1992;6:705-14.
25. Rougier N, Bourc’his D, Gomes DM, Niveleau A, Plachot M, Paldi A, et al. Chromosome methylation patterns during mammalian preimplantation development. Genes Dev. 1998;12:2108-13.
26. Perreault SD. Chromatin remodeling in mammalian zygotes. Mutat Res. 1992;296:43-55.
27. Perreault SD, Zirkin BR. Sperm nuclear decondensation in mammals: role of sperm-associated proteinase in vivo. J Exp Zool. 1982;224:253-7.
28. van der Heijden GW, Dieker JW, Derijck AA, Muller S, Berden JH, Braat DD, et al. Asymmetry in histone H3 variants and lysine methylation between paternal and maternal chromatin of the early mouse zygote. Mech Dev. 2005;122:1008-22.
29. Oswald J, Engemann S, Lane N, Mayer W, Olek A, Fundele R, et al. Active demethylation of the paternal genome in the mouse zygote. Curr Biol. 2000;10: 475-8.
30. Santos F, Hendrich B, Reik W, Dean W. Dynamic reprogramming of DNA methylation in the early mouse embryo. Dev Biol. 2002;241:172-82.
31. Santos F, Peters AH, Otte AP, Reik W, Dean W. Dynamic chromatin modifications characterise the first cell cycle in mouse embryos. Dev Biol. 2005; 280:225-36.
32. Puschendorf M, Terranova R, Boutsma E, Mao X, Isono K, Brykczynska U, et al. PRC1 and Suv39h specify parental asymmetry at constitutive heterochromatin in early mouse embryos. Nat Genet. 2008;40:411-20.
33. Probst AV, Santos F, Reik W, Almouzni G, Dean W. Structural differences in centromeric heterochromatin are spatially reconciled on fertilisation in the mouse zygote. Chromosoma. 2007;116:403-15.
34. Guenatri M, Bailly D, Maison C, Almouzni G. Mouse centric and pericentric satellite repeats form distinct functional heterochromatin. J Cell Biol. 2004;166: 493-505.
35. Adenot PG, Mercier Y, Renard JP, Thompson EM. Differential H4 acetylation of paternal and maternal chromatin precedes DNA replication and differential transcriptional activity in pronuclei of 1-cell mouse embryos. Development. 1997;124:4615-25.
36. Arney KL, Bao S, Bannister AJ, Kouzarides T, Surani MA. Histone methylation de fines epigenetic asymmetry in the mouse zygote. Int J Dev Biol. 2002;46:317-20.
37. Morgan HD, Santos F, Green K, Dean W, Reik W. Epigenetic reprogramming in mammals. Hum Mol Genet. 2005;14(Spec No 1):R47-58.
38. Schneider J, Shilatifard A. Histone demethylation by hydroxylation: chemistry in action. ACS Chem Biol. 2006;1:75-81.
39. Nashun B, Yukawa M, Liu H, Akiyama T, Aoki F. Changes in the nuclear deposition of histone H2A variants during pre-implantation development in mice. Development. 2010;137:3785-94.
40. Akiyama T, Suzuki O, Matsuda J, Aoki F. Dynamic replacement of histone H3 variants reprograms epigenetic marks in early mouse embryos. PLoS Genet. 2011;7:e1002279.
41. Santenard A, Ziegler-Birling C, Koch M, Tora L, Bannister AJ, Torres-Padilla ME. Heterochromatin formation in the mouse embryo requires critical residues of the histone variant H3.3. Nat Cell Biol. 2010;12:853-62.
42. Daujat S, Weiss T, Mohn F, Lange UC, Ziegler-Birling C, Zeissler U, et al. H3K64 trimethylation marks heterochromatin and is dynamically remodeled during developmental reprogramming. Nat Struct Mol Biol. 2009;16:777-81.
43. Kouzarides T. Chromatin modifications and their function. Cell. 2007;128:693-705.
44. Trasler JM, Alcivar AA, Hake LE, Bestor T, Hecht NB. DNA methyltransferase is developmentally expressed in replicating and non-replicating male germ cells. Nucleic Acids Res. 1992;20:2541-5.
45. Bourc’his D, Xu GL, Lin CS, Bollman B, Bestor TH. Dnmt3L and the establishment of maternal genomic imprints. Science. 2001;294:2536-9.
46. Hajkova P, Erhardt S, Lane N, Haaf T, El-Maarri O, Reik W, et al. Epigenetic reprogramming in mouse primordial germ cells. Mech Dev. 2002;117:15-23.
47. Lee J, Inoue K, Ono R, Ogonuki N, Kohda T, Kaneko-Ishino T, et al. Erasing genomic imprinting memory in mouse clone embryos produced from day 11.5 primordial germ cells. Development. 2002;129:1807-17.
48. Yamazaki Y, Mann MR, Lee SS, Marh J, McCarrey JR, Yanagimachi R, et al. Reprogramming of primordial germ cells begins before migration into the genital ridge, making these cells inadequate donors for reproductive cloning. Proc Natl Acad Sci USA. 2003;100:12207-12.
49. Popp C, Dean W, Feng S, Cokus SJ, Andrews S, Pellegrini M, et al. Genome- wide erasure of DNA methylation in mouse primordial germ cells is affected by AID de ficiency. Nature. 2010;463:1101-5.
50. Smallwood SA, Tomizawa S, Krueger F, Ruf N, Carli N, Segonds-Pichon A, et al. Dynamic CpG island methylation landscape in oocytes and preimplantation embryos. Nat Genet. 2011;43:811-4.
51. Ciccone DN, Su H, Hevi S, Gay F, Lei H, Bajko J, et al. KDM1B is a histone H3K4 demethylase required to establish maternal genomic imprints. Nature. 2009;461:415-8.
52. Quenneville S, Verde G, Corsinotti A, Kapopoulou A, Jakobsson J, Offner S, et al. In embryonic stem cells, ZFP57/KAP1 recognize a methylated hexanucleotide to affect chromatin and DNA methylation of imprinting control regions. Mol Cell. 2011;44:361-72.
53. Hiura H, Obata Y, Komiyama J, Shirai M, Kono T. Oocyte growth-dependent progression of maternal imprinting in mice. Genes Cells. 2006;11:353-61.
54. Hata K, Okano M, Lei H, Li E. Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice. Development. 2002;129:1983-93.
55. 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.
56. Smallwood SA, Kelsey G. De novo DNA methylation: a germ cell perspective. Trends Genet. 2012;28:33-42.
57. Chotalia M, Smallwood SA, Ruf N, Dawson C, Lucifero D, Frontera M, et al. Transcription is required for establishment of germline methylation marks at imprinted genes. Genes Dev. 2009;23:105-17.
58. Li X, Ito M, Zhou F, Youngson N, Zuo X, Leder P, et al. A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints. Dev Cell. 2008;15:547-57.
59. Ideraabdullah FY, Bartolomei MS. ZFP57: KAPturing DNA methylation at imprinted loci. Mol Cell. 2011;44:341-2.
60. Lucifero D, Mann MR, Bartolomei MS, Trasler JM. Gene-specific timing and epigenetic memory in oocyte imprinting. Hum Mol Genet. 2004;13:839-49.
61. Sekita Y, Wagatsuma H, Nakamura K, Ono R, Kagami M, Wakisaka N, et al. Role of retrotransposon-derived imprinted gene, Rtl1, in the feto-maternal interface of mouse placenta. Nat Genet. 2008;40:243-8.
62. Rawn SM, Cross JC. The evolution, regulation, and function of placenta- specific genes. Annu Rev Cell Dev Biol. 2008;24:159-81.
63. Brown JD, Piccuillo V, O’Neill RJ. Retroelement demethylation associated with abnormal placentation in Mus musculus x Mus caroli hybrids. Biol Reprod. 2012;86:88.
64. Dean W, Santos F, Reik W. Epigenetic reprogramming in early mammalian development and following somatic nuclear transfer. Semin Cell Dev Biol. 2003;14:93-100.
65. Ramsahoye BH, Biniszkiewicz D, Lyko F, Clark V, Bird AP, Jaenisch R. Non- CpG methylation is prevalent in embryonic stem cells and may be mediated by DNA methyltransferase 3a. Proc Natl Acad Sci USA. 2000;97:5237-42.
66. Tomizawa S, Kobayashi H, Watanabe T, Andrews S, Hata K, Kelsey G, et al. Dynamic stage-specific changes in imprinted differentially methylated regions during early mammalian development and prevalence of non-CpG methylation in oocytes. Development. 2011;138:811-20.
67. Ooi SK, Bestor TH. The colorful history of active DNA demethylation. Cell. 2008;133:1145-8.
68. Niehrs C, Active DNA. Demethylation and DNA repair. Differentiation. 2009;77:1-11.
69. Fritz EL, Papavasiliou FN. Cytidine deaminases: AIDing DNA demethylation? Genes Dev. 2010;24: 2107-14.
70. Teperek-Tkacz M, Pasque V, Gentsch G, Ferguson-Smith AC. Epigenetic reprogramming: is deamination key to active DNA demethylation? Reproduction. 2011;142:621-32.
71. Guo JU, Su Y, Zhong C, Ming GL, Song H. Emerging roles of TET proteins and 5-hydroxymethylcytosines in active DNA demethylation and beyond. Cell Cycle. 2011;10:2662-8.
72. Wu H, Zhang Y. Mechanisms and functions of Tet protein-mediated 5- methylcytosine oxidation. Genes Dev. 2011;25:2436-52.
73. Williams K, Christensen J, Helin K. DNA methylation: TET proteins-guardians of CpG islands? EMBO Rep. 2011;13:28-35.
74. Ito S, D’Alessio AC, Taranova OV, Hong K, Sowers LC, Zhang Y. Role of Tet proteins in 5mC to 5hmC conversion, ES-cell self-renewal and inner cell mass specification. Nature. 2010;466:1129-33.
75. Iqbal K, Jin SG, Pfeifer GP, Szabo PE. Reprogramming of the paternal genome upon fertilization involves genome-wide oxidation of 5-methylcytosine. Proc Natl Acad Sci USA. 2011;108:3642-7.
76. Wossidlo M, Nakamura T, Lepikhov K, Marques CJ, Zakhartchenko V, Boiani M, et al. 5-hydroxymethylcytosine in the mammalian zygote is linked with epigenetic reprogramming. Nat Commun. 2011;2:241.
77. Ito S, Shen L, Dai Q, Wu SC, Collins LB, Swenberg JA, et al. Tet proteins can convert 5-methylcytosine to 5-formylcytosine and 5-carboxylcytosine. Science. 2011;333:1300-3.
78. Inoue A, Shen L, Dai Q, He C, Zhang Y. Generation and replication-dependent dilution of 5fC and 5caC during mouse preimplantation development. Cell Res. 2011;21:1670-6.
79. Gu TP, Guo F, Yang H, Wu HP, Xu GF, Liu W, et al. The role of Tet3 DNA dioxygenase in epigenetic reprogramming by oocytes. Nature. 2011;477:606-10.
80. Inoue A, Zhang Y. Replication-dependent loss of 5-hydroxymethylcytosine in mouse preimplantation embryos. Science. 2011;334:194.
81. Waterland RA, Jirtle RL. Transposable elements: targets for early nutritional effects on epigenetic gene regulation. Mol Cell Biol. 2003;23:5293-300.
82. vy allele by nutritional supplementation. Proc Natl Acad Sci USA. 2006;103:17308-12.
83. Daxinger L, Whitelaw E. Understanding transgenerational epigenetic inheritance via the gametes in mammals. Nat Rev Genet. 2012;13:153-62.
84. Borgel J, Guibert S, Li Y, Chiba H, Schubeler D, Sasaki H, et al. Targets and dynamics of promoter DNA methylation during early mouse development. Nat Genet. 2010;42:1093-100.
85. DeBaun MR, Niemitz EL, Feinberg AP. Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet. 2003;72:156-60.
86. Gicquel C, Gaston V, Mandelbaum J, Siffroi JP, Flahault A, Le Bouc Y. In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. Am J Hum Genet. 2003;72:1338-41.
87. Maher ER, Afnan M, Barratt CL. Epigenetic risks related to assisted reproductive technologies: epigenetics, imprinting, ART and icebergs? Hum Reprod. 2003;18:2508-11.
88. Maher ER, Brueton LA, Bowdin SC, Luharia A, Cooper W, Cole TR, et al. Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). J Med Genet. 2003;40:62-4.
89. Doornbos ME, Maas SM, McDonnell J, Vermeiden JP, Hennekam RC. Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study. Hum Reprod. 2007;22:2476-80.
90. Amor DJ, Halliday J. A review of known imprinting syndromes and their association with assisted reproduction technologies. Hum Reprod. 2008;23:2826-34.
91. Manipalviratn S, DeCherney A, Segars J. Imprinting disorders and assisted reproductive technology. Fertil Steril. 2009;91:305-15.
92. Market-Velker BA, Zhang L, Magri LS, Bonvissuto AC, Mann MR. Dual effects of superovulation: loss of maternal and paternal imprinted methylation in a dosedependent manner. Hum Mol Genet. 2010;19:36-51.
93. Wilkins-Haug L. Epigenetics and assisted reproduction. Curr Opin Obstet Gynecol. 2009;21:201-6.
94. Ibala-Romdhane S, Al-Khtib M, Khoueiry R, Blachere T, Guerin JF, Lefevre A. Analysis of H19 methylation in control and abnormal human embryos, sperm and oocytes. Eur J Hum Genet. 2011;19:1138-43.
95. Horii T, Suetake I, Yanagisawa E, Morita S, Kimura M, Nagao Y, et al. The Dnmt3b splice variant is specifically expressed in in vitro-manipulated blastocysts and their derivative ES cells. J Reprod Dev. 2011;57:579-85.
96. Denomme MM, Zhang L, Mann MR. Embryonic imprinting perturbations do not originate from superovulation-induced defects in DNA methylation acquisition. Fertil Steril. 2011;96:734-8 e2.
97. Grace KS, Sinclair KD. Assisted reproductive technology, epigenetics, and long-term health: a developmental time bomb still ticking. Semin Reprod Med. 2009;27:409-16.
98. Savage T, Peek J, Hofman PL, Cut field WS. Childhood outcomes of assisted reproductive technology. Hum Reprod. 2011;26:2392-400.
99. Chian RC. In-vitro maturation of immature oocytes for infertile women with PCOS. Reprod Biomed Online. 2004;8:547-52.
100. Sato A, Otsu E, Negishi H, Utsunomiya T, Arima T. Aberrant DNA methylation of imprinted loci in superovulated oocytes. Hum Reprod. 2007;22:26-35.
101. Hiendleder S, Wirtz M, Mund C, Klempt M, Reichenbach HD, Stojkovic M, et al. Tissue-specific effects of in vitro fertilization procedures on genomic cytosine methylation levels in overgrown and normal sized bovine fetuses. Biol Reprod. 2006;75: 17-23.
102. Borghol N, Lornage J, Blachere T, Sophie Garret A, Lefevre A. Epigenetic status of the H19 locus in human oocytes following in vitro maturation. Genomics. 2006;87:417-26.
103. Watkins AJ, Wilkins A, Cunningham C, Perry VH, Seet MJ, Osmond C, et al. Low protein diet fed exclusively during mouse oocyte maturation leads to behavioural and cardiovascular abnormalities in of fspring. J Physiol. 2008;586:2231-44.
104. Kwong WY, Wild AE, Roberts P, Willis AC, Fleming TP. Maternal undernutrition during the preimplantation period of rat development causes blastocyst abnormalities and programming of postnatal hypertension. Development. 2000;127:4195-202.
105. Batcheller A, Cardozo E, Maguire M, DeCherney AH, Segars JH. Are there subtle genome-wide epigenetic alterations in normal of fspring conceived by assisted reproductive technologies? Fertil Steril. 2011;96:1306-11.