Epigenetic risks related to assisted reproductive technologies: Risk analysis and epigenetic inheritance

Human Reproduction

Volumn 17, Issue 10, 2002, Pages 2487-2494

  De Rycke, M ^a   Liebaers, I ^a   Van Steirteghem, A ^b  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^b CENTRE FOR REPRODUCTIVE MEDICINE   (Belgium)

Author keywords

Assisted reproductive techniques; Epigenetic risks; Imprinting; In vitro culture; Methylation

Indexed keywords

DNA;

BIRTH DEFECT; CELL CLONING; CELL NUCLEUS TRANSPLANTATION; CHROMATIN STRUCTURE; CHROMOSOME ABERRATION; DNA METHYLATION; EMBRYO; EMBRYO CULTURE; FERTILITY; FERTILIZATION IN VITRO; FOLLOW UP; GAMETE; GENE EXPRESSION; GENETIC RISK; GENOME IMPRINTING; HUMAN; INFERTILITY; INFERTILITY THERAPY; INHERITANCE; INTRACYTOPLASMIC SPERM INJECTION; LOW BIRTH WEIGHT; MALFORMATION SYNDROME; MARRIAGE; PHENOTYPE; REVIEW; SAFETY; SPERMATOCYTE;

EID: 0036797894     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/17.10.2487     Document Type: Review

References (73)

1. Amir, R.E. and Zoghbi, H.Y. (2000) Rett Syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am. J. Med. Genet., 97, 147-152.
2. Ariel, M., Cedar, H. and McCarrey J. (1994) Developmental changes in methylation of spermatogenesis-specific genes include reprogramming in the epididymis. Nature Genet., 7, 59-63.
3. Barritt, J.A., Willadsen, S., Brenner, C. and Cohen, J. (2001) Cytoplasmic transfer in assisted reproduction. Hum. Reprod., Update, 7, 428-435.
4. Battaglia, D.E., Goodwin, P., Klein, N.A. and Soules, M.R. (1996) Influence of maternal age on meiotic spindle assembly in oocytes from naturally cycling women. Hum. Reprod., 11, 2247-2222.
5. Bonduelle, M., Joris, H., Hofmans, K., Liebaers, I. and Van Steirteghem, A. (1998) Mental development of 201 ICSI children at 2 years of age. Lancet, 351, 1553.
6. Bonduelle, M., Camus, M., De Vos, A., Staessen, C. Tournaye, H., Van Assche, E., Verheyen, G., Devroey, P., Liebaers, I. and Van Steirteghem, A. (1999) Seven years of intracytoplasmic sperm injection and follow-up of 1987 subsequent children. Hum. Reprod., 14 (Suppl. 1), 243-264.
7. Bonduelle, M., Liebaers, I., Deketelaere, V., Derde, M., Camus, M., Devroey, P. and Van Steirteghem, A. (2002) Neonatal data on a cohort of 2889 infants born after ICSI) (1991-1999 and of 2995 infants born after IVF (1983-1999). Hum. Reprod., 17, 671-694.
8. Bourc'his, D., Le Bourhis, D., Patin, D., Niveleau, A., Comizzoli, P., Renard, J.-P. and Viegas-Péquignot, E. (2001) Delayed and incomplete reprogramming of chromosome methylation patterns in bovine cloned embryos. Curr. Biol., 11, 1542-1546.
9. Bowen, J.R., Gibson, F.L., Leslie, G.I. and Saunders, D.M. (1998) Medical and developmental outcome at 1 year for children conceived by intracytoplasmic sperm injection. Lancet, 351, 1529-1535.
10. Brenner, C.A., Barritt, J.A., Willadsen, S. and Cohen, J. (2000) Mitochondrial DNA heteroplasmy after human ooplasmic transplantation. Fertil. Steril., 74, 573-578.
11. Buitendijk, S.E. (1999) Children after in vitro fertilization. An overview of the literature. Int. J. Technol. Assess. Health Care, 15, 52-65.
12. Carlone, D.L. and Skalnik, D.G. (2001) CpG binding protein is crucial for early embryonic development. Mol. Cell. Biol., 21, 7601-7606.
13. Couvert, P., Bienvenu, T., Aquaviva, C., Poirier, K., Moraine, C., Gendrot, C., Verloes, A., Andrès, C., Le Fevre, A.C., Souville, I. et al. (2001) MECP2 is highly mutated in X-linked mental retardation. Hum. Mol. Genet., 10, 941-946.
14. Cummins, J.M. (2001) Mitochondria: potential roles in embryogenesis and nucleocytoplasmic transfer. Hum. Reprod. Update, 7, 217-228.
15. Dean, W. and Ferguson-Smith, A. (2001) Mother maintains methylation marks. Curr. Biol., 11, 527-530.
16. Devroey, P., Nagy, P., Tournaye, H., Liu, J., Silber, S. and Van Steirteghem, A. (1996) Outcome of intracytoplasmic sperm injection with testicular spermatozoa in obstructive and non-obstructive azoospermia. Hum. Reprod., 11, 1015-1018.
17. Doherty, A.S., Mann, M.R., Tremblay, K. D., Bartolomei, M. S. and Schultz, R.M. (2000) Differential effects of culture on imprinted H19 expression in the preimplantation mouse embryo. Biol. Reprod., 62, 1526-1535.
18. Doyle, P. Beral, V. and Maconochie, N. (1992) Preterm delivery, low birthweight and small-for-gestational-age in liveborn singleton babies resulting from in-vitro fertilization. Hum. Reprod., 7, 425-428.
19. Falls, J.G., Pulford, D.J., Wylie, A.A. and Jirtle, R.L. (1999) Genomic imprinting: implications for human disease. Am. J. Path., 154, 635-641.
20. Gibbons, R.J. and Higgs, D.R. (2000) Molecular-clinical spectrum of the ATR-X syndrome. Am. J. Med. Genet., 97, 204-212.
21. Gibbons, R.J., McDowell, T.L., Raman, S., O'Rourke, D.M., Garrick, D., Ayyub, H. and Higgs, D.R. (2000) Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation. Nature Genet., 24, 368-371.
22. Handyside, A.H., Kontogianni, E.H., Hardy, K. and Winston, R.M. (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature, 344, 768-770.
23. Howell, C.Y., Bestor, T.H., Ding, F., Latham, K.E., Mertineit, C., Trasier, J.M. and Chaillet, J.R. (2001) Genomic imprinting disrupted by a maternal effect mutation in the Dnmt1 gene. Cell, 104, 829-838.
24. Humpherys, D., Eggan, K., Akutsu, H., Hochedlinger, K., Rideout, W.M. 3rd, Binszkiewicz, D., Yanagimachi, R. and Jaenisch, R. (2001) Epigenetic instability in ES cells and cloned mice. Science, 293, 95-97.
25. International Working Group on Preimplantation Genetics (2001) Tenth anniversary of preimplantation genetic diagnosis. J. Assist. Reprod. Genet., 18, 64-70.
26. Isles, A.R. and Wilkinson, L.S. (2000) Imprinted genes, cognition and behaviour. Trends Cogn. Sciences, 4, 309-318.
27. Jirtle, R.L. (1999) Genomic imprinting and cancer. Exp. Cell Res., 248, 18-24.
28. John, R.M. and Surani, M.A. (1999) Agouti germ line gets acquisitive. Nature Genet., 23, 254-256.
29. Jones, P.A. and Takai, D. (2001) The role of DNA methylation in mammalian epigenetics. Science, 293, 1068-1069.
30. Kausche, A., Jones, G.M., Trounson, A.O., Figueiredo, F., MacLachlan, V. and Lolatgis, N. (2001) Sex ratio and birth weights of infants born as a result of blastocyst transfers compared with early cleavage stage embryo transfers. Fertil. Steril., 79, 688-693.
31. Kerjean, A., Dupont, J., Vasseur, C., Le Tessier, D., Cuisset, L., Paldi, A., Jouannet, P. and Jeanpierre, M. (2000) Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesis. Hum. Mol. Genet., 9, 2183-2187.
32. Killian, J.K., Nolan, C.M., Wylie, A.A., Li, T., Vu, T.H., Hoffman, A.R. and Jirtle, R.L. (2001) Divergent evolution in M6P/IGF2R imprinting from the Jurassic to the Quaternary. Hum. Mol. Genet., 10, 1721-1728.
33. Khosla, S., Dean, W., Reik, W. and Feil, R. (2001) Culture of preimplantation embryos and its long-term effects on gene expression and phenotype. Hum. Reprod. Update, 7, 419-427.
34. Leslie, G.I., Gibson, F.L., McMahon, C., Cohen, J. and Saunders, D.M. (2001) Sperm quality as a predictor of child health and development in children conceived using ICSI. Hum. Reprod., 16 (Abstract Bk.1), p.38.
35. Lumey, L.H. (1992) Decreased birthweights in infants after maternal in utero exposure to the Dutch famine of 1944-1945. Paediatr. Perinat. Epidemiol., 6, 240-253.
36. Manning, M., Lissens, W., Bonduelle, M., Camus, M., De Rycke, M., Liebaers, I. and Van Steirteghem, A. (2000) Study of DNA-methylation patterns at chromosome 15q11-q13 in children born after ICSI reveals no imprinting defects. Mol. Hum. Reprod., 6, 1049-1053.
37. Mayer, W., Niveleau, A., Walter, J., Fundele, R. and Haaf, T. (2000) Demethylation of the zygotic paternal genome. Nature, 403, 501-502.
38. Ménézo, Y.J.R., Chouteau, J., Torello, M.J., Girard, A. and Veiga, A. (1999) Birthweight and sex ratio after transfer at the blastocyst stage in humans. Fertil. Steril., 72, 221-224.
39. Morgan, H.D., Sutherland, H.G.E., Martin, D.I.K. and Whitelaw, E. (1999) Epigenetic inheritance at the agouti locus in the mouse. Nature Genet., 23, 314-318.
40. Niemann, H. and Wrenzycki, C. (2000) Alterations of expression of developmentally important genes in preimplantation bovine embryos by in vitro culture conditions: implications for subsequent development. Theriogenology, 53, 21-34.
41. Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boue, J., Bertheas, M.F. and Mandel, J.L. (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science, 252, 1097-1102.
42. Okano, M., Bell, D.W., Haber, D.A. and Li, E. (1999) DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell, 99, 247-257.
43. Olivennes, F., Mannaerts, B., Struijs, M., Bonduelle, M. and Devroey, P. (2001) Perinatal outcome of pregnancy after GnRH antagonist (ganirelix) treatment during ovarian stimulation for conventional IVF: a preliminary report. Hum. Reprod., 16, 1588-1591.
44. Palermo, G., Joris, H., Devroey, P. and Van Steirteghem, A.C. (1992) Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet, 340, 17-18.
45. Reik, W. and Walter, J. (2001) Genomic imprinting: parental influence on the genome. Nat. Rev. Genet., 2, 21-32.
46. Reik, W., Dean, W. and Walter, J. (2001) Epigenetic reprogramming in mammalian development. Science, 293, 1089-1093.
47. Rideout, W.M. III, Eggan, K. and Jaenisch, R. (2001) Nuclear cloning and epigenetic reprogramming of the genome. Science, 293, 1093-1097.
48. Robertson, K.D. and Wolffe, A. P. (2000) DNA methylation in health and disease. Nat. Rev. Genet., 1, 11-19.
49. Roemer, I., Reik, W., Dean, W. and Klose, J. (1997) Epigenetic inheritance in the mouse. Curr. Biol., 7, 277-280.
50. Salpekar, A., Huntriss, J., Bolton, V. and Monk, M. (2001) The use of amplified cDNA to investigate the expression of seven imprinted genes in human oocytes and preimplantation embryos. Mol. Hum. Reprod., 7, 839-844.
51. Shamanski, F.L., Kimura, Y., Lavoir, M., Pedersen, R.A. and Yanagimachi, R. (1999) Status of genomic imprinting in mouse spermatids. Hum. Reprod., 14, 1050-1056.
52. Silber, S.J., Johnson, L., Verheyen, G. and Van Steirteghem, A. (2000) Round spermatid injection. Fertil. Steril., 73, 897-900.
53. Silva, A.J. and White, R. (1988) Inheritance of allelic blueprints for methylation patterns. Cell, 54, 145-152.
54. Skuse, D.H. (2000) Imprinting, the X-chromosome, and the male brain: explaining sex differences in the liability to autism. Pediat. Res., 47, 9-16.
55. Solter D. (2001) Mammalian cloning: advances and limitations. Nat. Rev. Genet., 1, 199-207.
56. Sousa, M., Barros, A., Takahashi, K. Liveira, C., Silva, J. and Tesarik, J. (1999) Clinical efficacy of spermatid conception: analysis using a new spermatid classification scheme. Hum. Reprod., 14, 1279-1286.
57. Sousa, M., Fernandes, S. and Barros, A. (2000) Prognostic factors for successful testicle spermatid recover. Mol. Cell. Endocrinol., 166, 37-43.
58. Sutcliffe, A.G., Taylor, B., Saunders, K., Thornton, S., Lieberman, B.A. and Grudzinskas, J.G. (2001) Outcome in the second year of life after in-vitro fertilisation by intracytoplasmic sperm injection: a UK case-control study. Lancet, 357, 2080-2084.
59. Tarlatzis, B.C. and Bili, H. (1998) Survey on intracytoplasmic sperm injection: report from the ESHRE ICSI Task Force. Hum. Reprod., 13 (Suppl.), 165-177.
60. Tesarik, J. (1998) Oocyte activation after intracytoplasmic injection of mature and immature sperm cells. Hum. Reprod., 13 (Suppl.), 117-127.
61. Tesarik, J., Mendoza, C. and Testart, J. (1995) Viable embryos from injection of round spermatids into oocytes. N. Engl. J. Med., 333, 525.
62. Van Steirteghem, A., Nagy, Z., Joris, H., Liu, J., Staessen, C., Smitz, J. Wisanto, A. and Devroey, P. (1993) High fertilization and implantation rates after intracytoplasmic sperm injection. Hum. Reprod., 8, 1061-1066.
63. Verheyen, G., Crabbe, E., Joris, H. and Van Steirteghem, A. (1998) Simple and reliable identification of the human round spermatid by inverted phase-contrast microscopy. Hum. Reprod., 13, 1570-1577.
64. Verkerk, A.J., Pieretti, M. and Sutcliffe, J.S. (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 65, 905-914.
65. Vicdan, K., Isik, A.Z. and Delilbasi, L. (2001) Development of blastocyst-stage embryos after round spermatid injection in patients with complete spermiogenesis failure. J. Assist. Reprod. Genet., 18, 78-86.
66. Voo, K.S., Carlone, D.L., Britta, M., Flodin, A. and Skalnik, D.G. (2000) Cloning of a mammalian transcriptional activator that binds unmethylated CpG motifs and shares a CXXC domain with DNA methyltransferase, human trithorax, and methyl-CpG binding domain protein 1. Mol. Cell. Biol., 20, 2108-2121.
67. Wang, M., Chen, D., Lui, J., Li, G. and Sun, Q. (2001) In vitro fertilisation of mouse oocytes reconstructed by transfer of metaphase II chromosomes results in live births. Zygote, 9, 9-14.
68. Wennerholm, U.B. (2000) Cryopreservation of embryos and oocytes: obstetric outcome and health in children. Hum. Reprod., 15 (Suppl. 5), 18-25.
69. Young, L.E. and Fairburn, H.R. (2000) Improving the safety of embryo technologies: possible role of genomic imprinting. Theriogenology, 53, 627-648.
70. Young, L.E., Fernandes, K., McEvoy, T.G. Butterwith, S.C., Gutierrez, C.G., Carolan, C., Broadbent, P.J., Robinson, J.J., Wilmut, I. and Sinclair, K.D. (2001) Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture. Nature Genet., 27, 153-154.
71. Yu, S., Pritchard, M. and Kremer, E. (1991) Fragile X genotype characterized by an unstable region of DNA. Science, 252, 1179-1181.
72. Zech, H., Vanderzwalmen, P., Prapas, Y., Lejeune, B., Duba, E., and Schoysman, R. (2000) Congenital malformations after intracytoplasmic injection of spermatids. Hum. Reprod., 15, 969-971.
73. Ziyyat, A. and Lefèvre, A. (2001) Differential gene expression in pre-implantation embryos from mouse oocytes injected with round spermatids or spermatozoa. Hum. Reprod., 16, 1449-1456.