Predisposition to aneuploidy in the oocyte

Cytogenetic and Genome Research

Volumn 133, Issue 2-4, 2011, Pages 127-135

  Vialard, F ^a,b   Boitrelle, F ^a,b   Molina Gomes, D ^a,b   Selva, J ^a,b  

^a CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^b LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

Author keywords

Age; Aneuploidy; Predisposition; Premature separation of sister chromatids; Recurrent aneuploidy; Recurrent implantation failure; Recurrent pregnancy losses

Indexed keywords

BONE MORPHOGENETIC PROTEIN 15; FOLLITROPIN; GROWTH DIFFERENTIATION FACTOR 9; PROTEIN BAX; PROTEIN BCL 2; PROTEIN BCL X;

AGE; ANEUPLOIDY; ARTICLE; CHROMOSOME REARRANGEMENT; DISEASE PREDISPOSITION; DISOMY; ENVIRONMENT; FERTILIZATION IN VITRO; GENETIC PREDISPOSITION; HUMAN; LIFESTYLE; MATERNAL AGE; MEIOTIC PROPHASE I; MONOSOMY; MUTATION; NONHUMAN; OOCYTE; OOCYTE DEVELOPMENT; PRIORITY JOURNAL; PROPHASE; RECURRENT DISEASE; SPERMATOZOON; SPONTANEOUS ABORTION; TURNER SYNDROME;

AGE FACTORS; ANEUPLOIDY; ANIMALS; FOLLICLE STIMULATING HORMONE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; OOCYTES; RECOMBINATION, GENETIC;

SYNAPSIS;

EID: 79954589553     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000324231     Document Type: Article

References (97)

1. Aboura A, Dupas C, Tachdjian G, Portnoi MF, Bourcigaux N, et al: Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure. J Clin Endocrinol Metab 94: 4540-4546 (2009).
2. Allshire RC, Karpen GH: Epigenetic regulation of centromeric chromatin: old dogs, new tricks? Nat Rev Genet 9: 923-937 (2008). (Pubitemid 50329068)
3. Angell RR: Predivision in human oocytes at meiosis I: a mechanism for trisomy formation in man. Hum Genet 86: 383-387 (1991).
4. Aurias A, Prieur M, DutrillauxB, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum Genet 45: 259-282 (1978). (Pubitemid 9080674)
5. Battin J: Fertility in Turner's syndrome and the risk for offspring. Bull Acad Natl Med 172: 723-729 (1988).
6. Boue JG, Boue A: Chromosomal anomalies in early spontaneous abortion. (Their consequences on early embryogenesis and in vitro growth of embryonic cells). Curr Top Pathol 62: 193-208 (1976).
7. Burrello N, Vicari E, Calogero AE: Chromosome abnormalities in spermatozoa of patients with azoospermia and normal somatic karyotype. Cytogenet Genome Res 111: 363-365 (2005). (Pubitemid 41414491)
8. Chen Y, Jefferson WN, Newbold RR, Padilla-Banks E, Pepling ME: Estradiol, progesterone, and genistein inhibit oocyte nest breakdown and primordial follicle assembly in the neonatal mouse ovary in vitro and in vivo. Endocrinology 148: 3580-3590 (2007). (Pubitemid 47105867)
9. Cheng EY, Hunt PA, Naluai-Cecchini TA, Fligner CL, Fujimoto VY, et al: Meiotic recombination in human oocytes. PLoS Genet 5:e1000661 (2009).
10. Cozzi J, Conn CM, Harper J, Winston RM, Rindl M, et al: A trisomic germ cell line and precocious chromatid segregation leads to recurrent trisomy 21 conception. Hum Genet 104: 23-28 (1999). (Pubitemid 29134637)
11. Eichenlaub-Ritter U: Mouse genetic models for aneuploidy induction in germ cells. Cytogenet Genome Res 111: 392-400 (2005). (Pubitemid 41414496)
12. Ferraretti AP, Magli MC, Kopcow L, Gianaroli L: Prognostic role of preimplantation genetic diagnosis for aneuploidy in assisted reproductive technology outcome. Hum Reprod 19: 694-699 (2004). (Pubitemid 38344537)
13. Fragouli E, Escalona A, Gutierrez-Mateo C, Tormasi S, Alfarawati S, et al: Comparative genomic hybridization of oocytes and first polar bodies from young donors. Reprod Biomed Online 19: 228-237 (2009).
14. Fragouli E, Katz-Jaffe M, Alfarawati S, Stevens J, Colis P, et al: Comprehensive chromosome screening of polar bodies and blastocysts from couples experiencing repeated implantation failure. Fertil Steril 94: 875-887 (2010).
15. Gallicchio L, Miller S, Greene T, Zacur H, Flaws JA: Premature ovarian failure among hairdressers. Hum Reprod 24: 2636-2641 (2009).
16. Garcia-Cruz R, Casanovas A, Brieno-Enriquez M, Robles P, Roig I, et al: Cytogenetic analyses of human oocytes provide new data on non-disjunction mechanisms and the origin of trisomy 16. Hum Reprod 25: 179-191 (2010).
17. Gardner R, Sutherland G: Chromosome Abnormalities and Genetic Counselling, 2nd Ed (Oxford University Press, Oxford 1996).
18. Gianaroli L, Magli MC, Ferraretti AP, Munne S: Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with a poor prognosis: identification of the categories for which it should be proposed. Fertil Steril 72: 837-844 (1999). (Pubitemid 29505447)
19. Gianaroli L, Magli MC, Ferraretti AP, Munne S, Balicchia B, et al: Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod 17: 3201-3207 (2002a). (Pubitemid 35469274)
20. Gianaroli L, Magli MC, Ferraretti AP, Tabanelli C, Trombetta C, Boudjema E: The role of preimplantation diagnosis for aneuploidies. Reprod Biomed Online 4 Suppl 3: 31-36 (2002b).
21. Greenfeld CR, Pepling ME, Babus JK, Furth PA, Flaws JA: BAX regulates follicular endowment in mice. Reproduction 133: 865-876 (2007). (Pubitemid 47162578)
22. Griffin DK: The incidence, origin, and etiology of aneuploidy. Int Rev Cytol 167: 263-296 (1996). (Pubitemid 26268263)
23. Hammoud I, Vialard F, Molina-Gomes D, Malagrida L, Bergere M, et al: Follicular fluid protein content (FSH, LH, PG4, E2, AMH) and oocyte aneuploidy. Hum Reprod 22 (suppl 1):i159 (2007).
24. Harper JC, de Die-Smulders C, Goossens V, Harton G, Moutou C, et al: ESHRE PGD consortium data collection VII: cycles from January to December 2004 with pregnancy follow-up to October 2005. Hum Reprod 23: 741-755 (2008). (Pubitemid 351651188)
25. Hassold T, Hunt P: To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet 2: 280-291 (2001). (Pubitemid 33674776)
26. Hassold T, Abruzzo M, Adkins K, Griffin D, Merrill M, et al: Human aneuploidy: incidence, origin, and etiology. Environ Mol Mutagen 28: 167-175 (1996). (Pubitemid 26380273)
27. Hodges CA, Revenkova E, Jessberger R, Hassold TJ, Hunt PA: SMC1beta-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunction. Nat Genet 37: 1351-1355 (2005). (Pubitemid 41722191)
28. Hunt PA, Hassold TJ: Sex matters in meiosis. Science 296: 2181-2183 (2002). (Pubitemid 34680292)
29. Hunt PA, Hassold TJ: Human female meiosis: what makes a good egg go bad? Trends Genet 24: 86-93 (2008).
30. Hunt PA, Koehler KE, Susiarjo M, Hodges CA, Ilagan A, et al: Bisphenol A exposure causes meiotic aneuploidy in the female mouse. Curr Biol 13: 546-553 (2003). (Pubitemid 36391931)
31. Kahraman S, Bahce M, Samli H, Imirzalioglu N, Yakisn K, et al: Healthy births and ongoing pregnancies obtained by preimplantation genetic diagnosis in patients with advanced maternal age and recurrent implantation failure. Hum Reprod 15: 2003-2007 (2000).
32. Kahraman S, Sertyel S, Findikli N, Kumtepe Y, Oncu N, et al: Effect of PGD on implantation and ongoing pregnancy rates in cases with predominantly macrocephalic spermatozoa. Reprod Biomed Online 9: 79-85 (2004). (Pubitemid 38961720)
33. Kaufman MH, Bain IM: The development potential of ethanol-induced monosomic and trisomic conceptuses in the mouse. J Exp Zool 231: 149-155 (1984).
34. Klein F, Mahr P, Galova M, Buonomo SB, Michaelis C, et al: A central role for cohesins in sister chromatid cohesion, formation of axial elements, and recombination during yeast meiosis. Cell 98: 91-103 (1999). (Pubitemid 29331199)
35. Kline J, Kinney A, Levin B, Warburton D: Trisomic pregnancy and earlier age at menopause. Am J Hum Genet 67: 395-404 (2000). (Pubitemid 30616744)
36. Kuliev A, Cieslak J, Ilkevitch Y, Verlinsky Y: Chromosomal abnormalities in a series of 6,733 human oocytes in preimplantation diagnosis for age-related aneuploidies. Reprod Biomed Online 6: 54-59 (2003). (Pubitemid 36857119)
37. Kuliev A, Cieslak J, Verlinsky Y: Frequency and distribution of chromosome abnormalities in human oocytes. Cytogenet Genome Res 111: 193-198 (2005). (Pubitemid 41414468)
38. Lamb NE, Sherman SL, Hassold TJ: Effect of meiotic recombination on the production of aneuploid gametes in humans. Cytogenet Genome Res 111: 250-255 (2005a). (Pubitemid 41414475)
39. Lamb NE, Yu K, Shaffer J, Feingold E, Sherman SL: Association between maternal age and meiotic recombination for trisomy 21. Am J Hum Genet 76: 91-99 (2005b). (Pubitemid 40023768)
40. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E: Klinefelter's syndrome. Lancet 364: 273-283 (2004). (Pubitemid 38942818)
41. LeMaire-Adkins R, Radke K, Hunt PA: Lack of checkpoint control at the metaphase/anaphase transition: a mechanism of meiotic nondisjunction in mammalian females. J Cell Biol 139: 1611-1619 (1997). (Pubitemid 28079227)
42. Lindenbaum RH, Hulten M, McDermott A, Seabright M: The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect? J Med Genet 22: 24-28 (1985). (Pubitemid 15165321)
43. Mahmood R, Brierley CH, Faed MJ, Mills JA, Delhanty JD: Mechanisms of maternal aneuploidy: FISH analysis of oocytes and polar bodies in patients undergoing assisted conception. Hum Genet 106: 620-626 (2000). (Pubitemid 30427016)
44. Mantzouratou A, Mania A, Fragouli E, Xanthopoulou L, Tashkandi S, et al: Variable aneuploidy mechanisms in embryos from couples with poor reproductive histories undergoing preimplantation genetic screening. Hum Reprod 22: 1844-1853 (2007). (Pubitemid 47062751)
45. Maratou K, Siddique Y, Kessling AM, Davies GE: Variation in alphoid DNA size and trisomy 21: a possible cause of nondisjunction. Hum Genet 106: 525-530 (2000). (Pubitemid 30406678)
46. Marzais B, Vorsanova SG, Roizes G, Yurov YB: Analysis of alphoid DNA variation and kinetochore size in human chromosome 21: evidence against pathological significance of alphoid satellite DNA diminutions. Tsitol Genet 33: 25-31 (1999).
47. McTavish KJ, Jimenez M, Walters KA, Spaliviero J, Groome NP, et al: Rising follicle-stimulating hormone levels with age accelerate female reproductive failure. Endocrinology 148: 4432-4439 (2007). (Pubitemid 47295708)
48. Michaelis C, Ciosk R, Nasmyth K: Cohesins: chromosomal proteins that prevent premature separation of sister chromatids. Cell 91: 35-45 (1997). (Pubitemid 27431311)
49. Montag M, van der Ven K, Dorn C, van der Ven H: Outcome of laser-assisted polar body biopsy and aneuploidy testing. Reprod Biomed Online 9: 425-429 (2004). (Pubitemid 39335266)
50. Munne S, Sandalinas M, Magli C, Gianaroli L, Cohen J, Warburton D: Increased rate of aneuploid embryos in young women with previous aneuploid conceptions. Prenat Diagn 24: 638-643 (2004). (Pubitemid 39108572)
51. Munne S, Velilla E, Colls P, Bermudez MG, Garrisi J, Cohen J: Self-correction of chromosomally abnormal embryos in culture and implications for stem cell production. Human Reprod 20(suppl 1):i7 (2005).
52. Munne S, Ary J, Zouves C, Escudero T Barnes F, et al: Wide range of chromosome abnormalities in the embryos of young egg donors. Reprod Biomed Online 12: 340-346 (2006).
53. Nasseri A, Mukherjee T, Grifo JA, Noyes N, Krey L, Copperman AB: Elevated day 3 serum follicle stimulating hormone and/or estradiol may predict fetal aneuploidy. Fertil Steril 71: 715-718 (1999). (Pubitemid 29149424)
54. Nichols SM, Gierbolini L, Gonzalez-Martinez JA, Bavister BD: Effects of in vitro maturation and age on oocyte quality in the rhesus macaque Macaca mulatta. Fertil Steril 93: 1591-1600 (2010).
55. Pan H, Ma P, Zhu W, Schultz RM: Age-associated increase in aneuploidy and changes in gene expression in mouse eggs. Dev Biol 316: 397-407 (2008).
56. Pang MG, Hoegerman SF, Cuticchia AJ, Moon SY, Doncel GF, et al: Detection of aneuploidy for chromosomes 4, 6, 7, 8, 9, 10, 11, 12, 13, 17, 18, 21, X and Y by fluorescence in-situ hybridization in spermatozoa from nine patients with oligoasthenoteratozoospermia undergoing intracytoplasmic sperm injection. Hum Reprod 14: 1266-1273 (1999). (Pubitemid 29224905)
57. Parisi S, McKay MJ, Molnar M, Thompson MA, van der Spek PJ, et al: Rec8p, a meiotic recombination and sister chromatid cohesion phosphoprotein of the Rad21p family conserved from fission yeast to humans. Mol Cell Biol 19: 3515-3528 (1999). (Pubitemid 29193811)
58. Pehlivan T, Rubio C, Rodrigo L, Remohi J, Pellicer A, Simon C: Preimplantation genetic diagnosis by fluorescence in situ hybridization: clinical possibilities and pitfalls. J Soc Gynecol Investig 10: 315-322 (2003). (Pubitemid 37102840)
59. Pellestor F, Andreo B, Arnal F, Humeau C, Demaille J: Maternal aging and chromosomal abnormalities: new data drawn from in vitro unfertilized human oocytes. Hum Genet 112: 195-203 (2003). (Pubitemid 36869104)
60. Pepling ME: From primordial germ cell to primordial follicle: mammalian female germ cell development. Genesis 44: 622-632 (2006). (Pubitemid 46047873)
61. Prieto I, Suja JA, Pezzi N, Kremer L, Martinez AC, et al: Mammalian STAG3 is a cohesin specific to sister chromatid arms in meiosis I. Nat Cell Biol 3: 761-766 (2001). (Pubitemid 32734256)
62. Pujol A, Durban M, Benet J, Boiso I, Calafell JM, et al: Multiple aneuploidies in the oocytes of balanced translocation carriers: a preimplantation genetic diagnosis study using first polar body. Reproduction 126: 701-711 (2003). (Pubitemid 38088460)
63. Pujol A, Benet J, Staessen C, Van Assche E, Campillo M, et al: The importance of aneuploidy screening in reciprocal translocation carriers. Reproduction 131: 1025-1035 (2006). (Pubitemid 43904976)
64. Quilter CR, Karcanias AC, Bagga MR, Duncan S, Murray A, et al: (2010). Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF). Hum Reprod. 25: 2139-2150.
65. Reis Soares S, Rubio C, Rodrigo L, Simon C, Remohi J, Pellicer A: High frequency of chromosomal abnormalities in embryos obtained from oocyte donation cycles. Fertil Steril 80: 656-657 (2003). (Pubitemid 37102888)
66. Revenkova E, Eijpe M, Heyting C, Gross B, Jessberger R: Novel meiosis-specific isoform of mammalian SMC1. Mol Cell Biol 21: 6984-6998 (2001). (Pubitemid 32911258)
67. Roberts R, Iatropoulou A, Ciantar D, Stark J, Becker DL, et al: Follicle-stimulating hormone affects metaphase I chromosome alignment and increases aneuploidy in mouse oocytes matured in vitro. Biol Reprod 72: 107-118 (2005). (Pubitemid 40013760)
68. Rossi G, Macchiarelli G, Palmerini MG, Canipari R, Cecconi S: Meiotic spindle configuration is differentially influenced by FSH and epidermal growth factor during in vitro maturation of mouse oocytes. Hum Reprod 21: 1765-1770 (2006). (Pubitemid 44028247)
69. Sachs ES, Jahoda MG, Los FJ, Pijpers L, Wladimiroff JW: Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risks. Am J Med Genet Suppl 7: 186-188 (1990).
70. Sandalinas M, Marquez C, Munne S: Spectral karyotyping of fresh, non-inseminated oocytes. Mol Hum Reprod 8: 580-585 (2002). (Pubitemid 34746293)
71. Sherman SL, Lamb NE, Feingold E: Relationship of recombination patterns and maternal age among non-disjoined chromosomes 21. Biochem Soc Trans 34: 578-580 (2006). (Pubitemid 44230768)
72. Shi Q, Martin RH: Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction 121: 655-666 (2001). (Pubitemid 32472051)
73. Simpson JL: Genetic and phenotypic heterogeneity in ovarian failure: overview of selected candidate genes. Ann N Y Acad Sci 1135: 146-154 (2008). (Pubitemid 351862133)
74. Stene J, Stene E, Mikkelsen M: Risk for chromosome abnormality at amniocentesis following a child with a non-inherited chromosome aberration. A European Collaborative Study on Prenatal Diagnoses 1981. Prenat Diagn 4: 81-95 (1984). (Pubitemid 14058142)
75. Steuerwald N, Cohen J, Herrera RJ, Sandalinas M, Brenner CA: Association between spindle assembly checkpoint expression and maternal age in human oocytes. Mol Hum Reprod 7: 49-55 (2001). (Pubitemid 32101764)
76. Sugiura-Ogasawara M, Ozaki Y, Sonta S, Makino T, Suzumori K: Exposure to bisphenol A is associated with recurrent miscarriage. Hum Reprod 20: 2325-2329 (2005). (Pubitemid 41418526)
77. Susiarjo M, Hassold TJ, Freeman E, Hunt PA: Bisphenol A exposure in utero disrupts early oogenesis in the mouse. PLoS Genet 3:e5 (2007).
78. Tsang WY, Dynlacht BD: sSgo1, a guardian of centriole cohesion. Dev Cell 14: 320-322 (2008).
79. Tuttle AM, Stampfli M, Foster WG: Cigarette smoke causes follicle loss in mice ovaries at concentrations representative of human exposure. Hum Reprod 24: 1452-1459 (2009).
80. Urman B, Yakin K, Balaban B: Recurrent implantation failure in assisted reproduction: how to counsel and manage. B. Treatment options that have not been proven to benefit the couple. Reprod Biomed Online 11: 382-391 (2005). (Pubitemid 41269584)
81. Van Blerkom J, Davis P: Differential effects of repeated ovarian stimulation on cytoplasmic and spindle organization in metaphase II mouse oocytes matured in vivo and in vitro. Hum Reprod 16: 757-764 (2001). (Pubitemid 32293806)
82. Verlinsky Y, Cieslak J, Ivakhnenko V, Evsikov S, Wolf G, et al: Prevention of age-related aneuploidies by polar body testing of oocytes. J Assist Reprod Genet 16: 165-169 (1999). (Pubitemid 29200654)
83. Vialard F, Petit C, Bergere M, Gomes DM, Martel-Petit V, et al: Evidence of a high proportion of premature unbalanced separation of sister chromatids in the first polar bodies of women of advanced age. Hum Reprod 21: 1172-1178 (2006).
84. Vialard F, Lombroso R, Bergere M, Gomes DM, Hammoud I, et al: Oocyte aneuploidy mechanisms are different in two situations of increased chromosomal risk: older patients and patients with recurrent implantation failure after in vitro fertilization. Fertil Steril 87: 1333-1339 (2007). (Pubitemid 46839101)
85. Vialard F, Gomes DM, Hammoud I, Bergere M, Wainer R, et al: Stability of aneuploidy rate in polar bodies in two cohorts from the same patient. Reprod Biomed Online 17: 213-219 (2008).
86. Voullaire L, Slater H, Williamson R, Wilton L: Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet 106: 210-217 (2000). (Pubitemid 30156426)
87. Voullaire L, Collins V, Callaghan T, McBain J, Williamson R, Wilton L: High incidence of complex chromosome abnormality in cleavage embryos from patients with repeated implantation failure. Fertil Steril 87: 1053-1058 (2007). (Pubitemid 46659952)
88. Waizenegger IC, Hauf S, Meinke A, Peters JM: Two distinct pathways remove mammalian cohesin from chromosome arms in prophase and from centromeres in anaphase. Cell 103: 399-410 (2000).
89. Warburton D, Dallaire L, Thangavelu M, Ross L, Levin B, Kline J: Trisomy recurrence: a reconsideration based on North American data. Am J Hum Genet 75: 376-385 (2004). (Pubitemid 39095814)
90. Warren AC, Chakravarti A, Wong C, Slaugenhaupt SA, Halloran SL: Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science 237: 652-654 (1987). (Pubitemid 17118727)
91. Weghofer A, Barad D, Li J, Gleicher N: Aneuploidy rates in embryos from women with prematurely declining ovarian function: a pilot study. Fertil Steril 88: 90-94 (2007). (Pubitemid 47001381)
92. Wells D, Delhanty JD: Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod 6: 1055-1062 (2000).
93. Wolstenholme J, Angell RR: Maternal age and trisomy-a unifying mechanism of formation. Chromosoma 109: 435-438 (2000).
94. Xiong B, Li S, Ai JS, Yin S, Ouyang YC, et al: BRCA1 is required for meiotic spindle assembly and spindle assembly checkpoint activation in mouse oocytes. Biol Reprod 79: 718-726 (2008).
95. Xu YW, Peng YT, Wang B, Zeng YH, Zhuang GL, Zhou CQ: High follicle-stimulating hormone increases aneuploidy in human oocytes matured in vitro. Fertil Steril 95: 99-104 (2011).
96. Yang Q, Sherman SL, Hassold TJ, Allran K, Taft L, et al: Risk factors for trisomy 21: maternal cigarette smoking and oral contraceptive use in a population-based case-control study. Genet Med 1: 80-88 (1999). (Pubitemid 129736007)
97. Yin S, Ai JS, Shi LH, Wei L, Yuan J, et al: Shugoshin1 may play important roles in separation of homologous chromosomes and sister chromatids during mouse oocyte meiosis. PLoS One 3:e3516 (2008).