Self-correction of chromosomal abnormalities in human preimplantation embryos and embryonic stem cells

Stem Cells and Development

Volumn 22, Issue 17, 2013, Pages 2449-2456

  Bazrgar, Masood ^a,b   Gourabi, Hamid ^a   Valojerdi, Mojtaba Rezazadeh ^a   Yazdi, Poopak Eftekhari ^a   Baharvand, Hossein ^a,b  

^a ROYAN INSTITUTE FOR REPRODUCTIVE BIOMEDICINE   (Iran)

^b Science and Culture University ^*  (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; ARTICLE; BLASTOCYST; CELL DIVISION; CELL GROWTH; CHROMOSOME ABERRATION; COPY NUMBER VARIATION; DIAGNOSTIC ERROR; DIPLOIDY; DNA REPAIR; EMBRYONIC STEM CELL; HUMAN; LIVE BIRTH; MOSAICISM; PREIMPLANTATION EMBRYO; PRIORITY JOURNAL;

ANEUPLOIDY; BLASTOCYST; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DNA COPY NUMBER VARIATIONS; EMBRYONIC STEM CELLS; FEMALE; HUMANS; MOSAICISM; PREGNANCY; PREIMPLANTATION DIAGNOSIS;

EID: 84882348211     PISSN: 15473287     EISSN: 15578534     Source Type: Journal    
DOI: 10.1089/scd.2013.0053     Document Type: Article

References (61)

1. Fragouli E and D Wells. (2011). Aneuploidy in the human blastocyst. Cytogenet Genome Res 133:149-159.
2. Dupont C, L Froenicke, LA Lyons, BD Bavister and CA Brenner. (2009). Chromosomal instability in rhesus macaque preimplantation embryos. Fertil Steril 91:1230-1237.
3. Baart EB, E Martini, MJ Eijkemans, D Van Opstal, NG Beckers, A Verhoeff, NS Macklon and BC Fauser. (2007). Milder ovarian stimulation for in-vitro fertilization reduces aneuploidy in the human preimplantation embryo: A randomized controlled trial. Hum Reprod 22:980-988.
4. Findikli N, S Kahraman, Y Saglam, C Beyazyurek, S Sertyel, G Karlikaya, H Karagozoglu and B Aygun. (2006). Embryo aneuploidy screening for repeated implantation failure and unexplained recurrent miscarriage. Reprod Biomed Online 13:38-46. (Pubitemid 44054844)
5. Harton GL, MD Rycke, F Fiorentino, C Moutou, S SenGupta, J Traeger-Synodinos and JC Harper. (2010). ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod 26:33-40.
6. Brodie D, CE Beyer, E Osborne, V Kralevski, S Rasi and T Osianlis. (2012). Preimplantation genetic diagnosis for chromosome rearrangements: One blastomere biopsy versus two blastomere biopsy. J Assist Reprod Genet 29:821-827.
7. Vanneste E, T Voet, CL Caignec, M Ampe, P Konings, C Melotte, S Debrock, M Amyere, M Vikkula, et al. (2009). Chromosome instability is common in human cleavagestage embryos. Nat Med 15:577-583.
8. Debrock S, C Melotte, C Spiessens, K Peeraer, E Vanneste, L Meeuwis, C Meuleman, JP Frijns, JR Vermeesch and TM D'Hooghe. (2010). Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: A prospective randomized trial. Fertil Steril 93:364-373.
9. Fragouli E, M Katz-Jaffe, S Alfarawati, J Stevens, P Colls, NN Goodall, S Tormasi, C Gutierrez-Mateo, R Prates, et al. (2010). Comprehensive chromosome screening of polar bodies and blastocysts from couples experiencing repeated implantation failure. Fertil Steril 94:875-887.
10. Wells D, MG Bermudez, N Steuerwald, AR Thornhill, DL Walker, H Malter, JD Delhanty and J Cohen. (2005). Expression of genes regulating chromosome segregation, the cell cycle and apoptosis during human preimplantation development. Hum Reprod 20:1339-1348. (Pubitemid 40790262)
11. Verlinsky Y, NH Zech, N Strelchenko, V Kukharenko, A Shkumatov, Z Zlatopolsky and A Kuliev. (2009). Correlation between preimplantation genetic diagnosis for chromosomal aneuploidies and the efficiency of establishing human ES cell lines. Stem Cell Res 2:78-82.
12. Taei A, H Gourabi, A Seifinejad, M Totonchi, E Shahbazi, MR Valojerdi, P Eftekhari, L Karimian and H Baharvand. (2010). Derivation of new human embryonic stem cell lines from preimplantation genetic screening and diagnosisanalyzed embryos. In Vitro Cell Dev Biol Anim 46:395-402.
13. Ben-Yosef D, M Malcov and R Eiges. (2008). PGD-derived human embryonic stem cell lines as a powerful tool for the study of human genetic disorders. Mol Cell Endocrinol 282:153-158.
14. Tiscornia G, EL Vivas and JC Izpisúa Belmonte. (2011). Diseases in a dish: Modeling human genetic disorders using induced pluripotent cells. Nat Med 17:1570-1576.
15. Martins-Taylor K and RH Xu. (2012). Concise review: Genomic stability of human induced pluripotent stem cells. Stem Cells 30:22-27.
16. Hanna JH, K Saha and R Jaenisch. (2010). Pluripotency and cellular reprogramming: Facts, hypotheses, unresolved issues. Cell 143:508-525.
17. Li W, X Wang,WFan, P Zhao, YC Chan, S Chen, S Zhang, X Guo, Y Zhang, et al. (2012). Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes. Hum Mol Genet 21:32-45.
18. Biancotti JC, K Narwani, N Buehler, B Mandefro, T Golan-Lev, O Yanuka, A Clark, D Hill, N Benvenisty and N Lavon. (2010). Human embryonic stem cells as models for aneuploid chromosomal syndromes. Stem Cells 28:1530-1540.
19. Fragouli E, D Wells and JD Delhanty. (2011). Chromosome abnormalities in the human oocyte. Cytogenet Genome Res 133:107-118.
20. Harper JC and SB Sengupta. (2012). Preimplantation genetic diagnosis: State of the art 2011. Hum Genet 131:175-186.
21. Mantzouratou A and JD Delhanty. (2011). Aneuploidy in the human cleavage stage embryo. Cytogenet Genome Res 133:141-148.
22. Northrop LE, NR Treff, B Levy and RT Scott Jr. (2010). SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts. Mol Hum Reprod 16:590-600.
23. van Echten-Arends J, S Mastenbroek, B Sikkema-Raddatz, JC Korevaar, MJ Heineman, F van der Veen and S Repping. (2011). Chromosomal mosaicism in human preimplantation embryos: A systematic review. Hum Reprod Update 17:620-627.
24. Liu J, W Wang, X Sun, L Liu, H Jin, M Li, C Witz, D Williams, J Griffith, et al. (2012). DNA microarray reveals that high proportions of human blastocysts from women of advanced maternal age are aneuploid and mosaic. Biol Reprod 87:1-9.
25. Mantikou E, KM Wong, S Repping and S Mastenbroek. (2012). Molecular origin of mitotic aneuploidies in preimplantation embryos. Biochim Biophys Acta 1822:1921-1930.
26. El Hajj N and T Haaf. (2013). Epigenetic disturbances in in vitro cultured gametes and embryos: Implications for human assisted reproduction. Fertil Steril 99:632-641.
27. Zheng P, RD Schramm and KE Latham. (2005). Developmental regulation and in vitro culture effects on expression of DNA repair and cell cycle checkpoint control genes in rhesus monkey oocytes and embryos. Biol Reprod 72: 1359-1369. (Pubitemid 40696079)
28. Huang A, J Adusumalli, S Patel, J Liem, J Williams III and MD Pisarska. (2009). Prevalence of chromosomal mosaicism in pregnancies from couples with infertility. Fertil Steril 91:2355-2360.
29. Ebner T, O Shebl, M Moser, RB Mayer, W Arzt and G Tews. (2010). Group culture of human zygotes is superior to individual culture in terms of blastulation, implantation and life birth. Reprod Biomed Online 21:762-768.
30. Wang YA, G Kovacs and EA Sullivan. (2010). Transfer of a selected single blastocyst optimizes the chance of a healthy term baby: A retrospective population based study in Australia 2004-2007. Hum Reprod 25:1996-2005.
31. Barbash-Hazan S, T Frumkin, M Malcov, Y Yaron, T Cohen, F Azem, A Amit and D Ben-Yosef. (2009). Preimplantation aneuploid embryos undergo self-correction in correlation with their developmental potential. Fertil Steril 92:890-896.
32. Bielanska M, S Jin, M Bernier, SL Tan and A Ao. (2005). Diploid-aneuploid mosaicism in human embryos cultured to the blastocyst stage. Fertil Steril 84:336-342. (Pubitemid 41125254)
33. Li M, CM DeUgarte, M Surrey, H Danzer, A DeCherney and DL Hill. (2005). Fluorescence in situ hybridization reanalysis of day-6 human blastocysts diagnosed with aneuploidy on day 3. Fertil Steril 84:1395-1400. (Pubitemid 41571886)
34. DeUgarte CM, M Li, M Surrey, H Danzer, D Hill and AH DeCherney. (2008). Accuracy of FISH analysis in predicting chromosomal status in patients undergoing preimplantation genetic diagnosis. Fertil Steril 90:1049-1054.
35. Baart EB, E Martini, I van den Berg, NS Macklon, RJ Galjaard, BC Fauser and D Van Opstal. (2006). Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF. Hum Reprod 21:223-233. (Pubitemid 41794315)
36. Magli MC, GM Jones, L Gras, L Gianaroli, I Korman and AO Trounson. (2000). Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologically normal blastocysts in vitro. Hum Reprod 15:1781-1786. (Pubitemid 30636069)
37. Santos MA, G Teklenburg, NS Macklon, D Van Opstal, GH Schuring-Blom, PJ Krijtenburg, J de Vreeden-Elbertse, BC Fauser and EB Baart. (2010). The fate of the mosaic embryo: Chromosomal constitution and development of Day 4, 5 and 8 human embryos. Hum Reprod 25:1916-1926.
38. Hernández ER. (2009). What next for preimplantation genetic screeningñBeyond aneuploidy. Hum Reprod 24:1538-1541.
39. Rodríguez-Santiago B, N Malats, N Rothman, L Armengol, M Garcia-Closas, M Kogevinas, O Villa, A Hutchinson, J Earl, et al. (2010). Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome. Am J Hum Genet 87:129-138.
40. Ambartsumyan G and AT Clark. (2008). Aneuploidy and early human embryo development. Hum Mol Genet 17:R10-R15.
41. Lebedev I. (2011). Mosaic aneuploidy in early fetal losses. Cytogenet Genome Res 133:169-183.
42. Vorsanova SG, AD Kolotii, IY Iourov, VV Monakhov, EA Kirillova, IV Soloviev and YB Yurov. (2005). Evidence for high frequency of chromosomal mosaicism in spontaneous abortions revealed by interphase FISH analysis. J Histochem Cytochem 53:375-380. (Pubitemid 40344079)
43. Zwijnenburg PJ, H Meijers-Heijboer and DI Boomsma. (2010). Identical but not the same: The value of discordant monozygotic twins in genetic research. Am J Med Genet B Neuropsychiatr Genet 153B:1134-1149.
44. Piotrowski A, CE Bruder, R Andersson, T Diaz de Sta° hl, U Menzel, J Sandgren, A Poplawski, D von Tell, C Crasto, et al. (2008). Somatic mosaicism for copy number variation in differentiated human tissues. Hum Mutat 29:1118-1124.
45. O'Huallachain M, KJ Karczewski, SM Weissman, AE Urban and MP Snyder. (2012). Extensive genetic variation in somatic human tissues. Proc Natl Acad Sci U S A 109:18018-18023.
46. Mkrtchyan H, M Gross, S Hinreiner, A Polytiko, M Manvelyan, K Mrasek, N Kosyakova, E Ewers, H Nelle, et al. (2010). Early embryonic chromosome instability results in stable mosaic pattern in human tissues. PLoS One 5:e9591.
47. Yurov YB, IY Iourov, SG Vorsanova, T Liehr, AD Kolotii, SI Kutsev, F Pellestor, AK Beresheva, IA Demidova, et al. (2007). Aneuploidy and confined chromosomal mosaicism in the developing human brain. PLoS One 2:e558.
48. Iourov IY, SG Vorsanova, T Liehr and YB Yurov. (2009). Aneuploidy in the normal, Alzheimer's disease and ataxiatelangiectasia brain: Differential expression and pathological meaning. Neurobiol Dis 34:212-220.
49. AmForsberg LA, C Rasi, HR Razzaghian, G Pakalapati, L Waite, KS Thilbeault, A Ronowicz, NE Wineinger, HK Tiwari, et al. (2012). Age-related somatic structural changes in the nuclear genome of human blood cells. J Hum Genet 90:217-228.
50. Munné S, E Velilla, P Colls, M Garcia Bermudez, MC Vemuri, N Steuerwald, J Garrisi and J Cohen. (2005). Self-correction of chromosomally abnormal embryos in culture and implications for stem cell production. Fertil Steril 84:1328-1334. (Pubitemid 41571877)
51. Zhang X, P Stojkovic, S Przyborski, M Cooke, L Armstrong, M Lako and M Stojkovic. (2006). Derivation of human embryonic stem cells from developing and arrested embryos. Stem Cells 24:2669-2676. (Pubitemid 46070118)
52. Lavon N, K Narwani, T Golan-Lev, N Buehler, D Hill and N Benvenisty. (2008). Derivation of euploid human embryonic stem cells from aneuploid embryos. Stem Cells 26:1874-1882.
53. Narwani K, JC Biancotti, T Golan-Lev, N Buehler, D Hill, S Shifman, N Benvenisty and N Lavon. (2010). Human embryonic stem cells from aneuploid blastocysts identified by pre-implantation genetic screening. In Vitro Cell Dev Biol Anim 46:309-316.
54. Wilton L, A Thornhill, J Traeger-Synodinos, KD Sermon and JC Harper. (2009). The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod 24:1221-1228.
55. Derhaag JG, E Coonen, M Bras, JM Bergers Janssen, R Ignoul-Vanvuchelen, JP Geraedts, JL Evers and JC Dumoulin. (2003). Chromosomally abnormal cells are not selected for the extra-embryonic compartment of the human preimplantation embryo at the blastocyst stage. Hum Reprod 18:2565-2574. (Pubitemid 37536621)
56. International Stem Cell Initiative; K Amps, PW Andrews, G Anyfantis, L Armstrong, S Avery, H Baharvand, J Baker, D Baker, MB Munoz, et al. (2011). Screening ethnically diverse human embryonic stem cells identifies a chromosome 20 minimal amplicon conferring growth advantage. Nat Biotechnol 29:1132-1144.
57. Nemati S, M Hatami, S Kiani, K Hemmesi, H Gourabi, N Masoudi, S Alaei and H Baharvand. (2011). Long-term self-renewable feeder-free human induced pluripotent stem cell-derived neural progenitors. Stem Cells Dev 20:503-514.
58. Baker DE, NJ Harrison, E Maltby, K Smith, HD Moore, PJ Shaw, PR Heath, H Holden and PW Andrews. (2007). Adaptation to culture of human embryonic stem cells and oncogenesis in vivo. Nat Biotechnol 25:207-215. (Pubitemid 46227120)
59. Munné S. (2006). Chromosome abnormalities and their relationship to morphology and development of human embryos. Reprod Biomed Online 12:234-253. (Pubitemid 43263338)
60. Kocabas AM, J Crosby, PJ Ross, HH Otu, Z Beyhan, H Can, WL Tam, GJ Rosa, RG Halgren, et al. (2006). The transcriptome of human oocytes. Proc Natl Acad Sci U S A 103:14027-14032. (Pubitemid 44452974)
61. Jaroudi S and S SenGupta. (2007). DNA repair in mammalian embryos. Mutat Res 635:53-77. (Pubitemid 46482375)