Skewed X chromosome inactivation in diploid and triploid female human embryonic stem cells

Human Reproduction

Volumn 24, Issue 8, 2009, Pages 1834-1843

  Liu, Weiqiang ^a   Sun, Xiaofang ^a  

^a GUANGZHOU MEDICAL UNIVERSITY   (China)

Author keywords

Epigenetic; Human embryonic stem cells; Random; Skew; X chromosome inactivation

Indexed keywords

ANDROGEN RECEPTOR;

ARTICLE; CELL CULTURE; CHROMOSOME INACTIVATION; CONTROLLED STUDY; DIPLOIDY; DNA METHYLATION; EMBRYONIC STEM CELL; GENE EXPRESSION; GENE TRANSLOCATION; HUMAN; HUMAN CELL; KARYOTYPE; POLYMERASE CHAIN REACTION; TRIPLOIDY; X CHROMOSOME;

EID: 67651100781     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dep126     Document Type: Article

References (41)

1. Adewumi O, Aflatoonian B, Ahrlund-Richter L, Amit M, Andrews PW, Beighton G, Bello PA, Benvenisty N, Berry LS, Bevan S et al. Characterization of human embryonic stem cell lines by the International Stem Cell Initiative. Nat Biotechnol 2007;25:803-816.
2. Allegrucci C, Denning C, Priddle H, Young L. Stem-cell consequences of embryo epigenetic defects. Lancet 2004;364:206-208.
3. Allegrucci C, Thurston A, Lucas E, Young L. Epigenetics and the germline. Reproduction 2005;129:137-149.
4. Allegrucci C, Wu YZ, Thurston A, Denning CN, Priddle H, Mummery CL, Ward-van Oostwaard D, Andrews PW, Stojkovic M, Smith N et al. Restriction landmark genome scanning identifies culture-induced DNA methylation instability in the human embryonic stem cell epigenome. Hum Mol Genet 2007;16:1253-1268.
5. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992;51:1229-1239.
6. Allen RC, Nachtman RG, Rosenblatt HM, Belmont JW. Application of carrier testing to genetic counseling for X-linked agammaglobulinemia. Am J Hum Genet 1994;54:25-35.
7. Baker DE, Harrison NJ, Maltby E, Smith K, Moore HD, Shaw PJ, Heath PR, Holden H, Andrews PW. Adaptation to culture of human embryonic stem cells and oncogenesis in vivo. Nat Biotechnol 2007;25:207-215.
8. Bretherick K, Gair J, Robinson WP. The association of skewed X chromosome inactivation with aneuploidy in humans. Cytogenet Genome Res 2005;111:260-265.
9. Chaumeil J, Okamoto I, Guggiari M, Heard E. Integrated kinetics of X chromosome inactivation in differentiating embryonic stem cells. Cytogenet Genome Res 2002;99:75-84.
10. Chow JC, Yen Z, Ziesche SM, Brown CJ. Silencing of the mammalian X chromosome. Annu Rev Genomics Hum Genet 2005;6:69-92.
11. Cowan CA, Klimanskaya I, McMahon J, Atienza J, Witmyer J, Zucker JP, Wang S, Morton CC, McMahon AP, Powers D et al. Derivation of embryonic stem-cell lines from human blastocysts. N Engl J Med 2004; 350:1353-1356.
12. Dhara SK, Benvenisty N. Gene trap as a tool for genome annotation and analysis of X chromosome inactivation in human embryonic stem cells. Nucleic Acids Res 2004;32:3995-4002.
13. Dvash T, Fan G. Epigenetic regulation of X-inactivation in human embryonic stem cells. Epigenetics 2009;4:19-22.
14. Enver T, Soneji S, Joshi C, Brown J, Iborra F, Orntoft T, Thykjaer T, Maltby E, Smith K, Dawud RA et al. Cellular differentiation hierarchies in normal and culture-adapted human embryonic stem cells. Hum Mol Genet 2005;14:3129-3140.
15. Glenn CC, Driscoll DJ, Yang TP, Nicholls RD. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes. Mol Hum Reprod 1997;3:321-332.
16. Hall LL, Byron M, Butler J, Becker KA, Nelson A, Amit M, Itskovitz-Eldor J, Stein J, Stein G, Ware C et al. X-inactivation reveals epigenetic anomalies in most hESC but identifies sublines that initiate as expected. J Cell Physiol 2008;216:445-452.
17. Hentze H, Graichen R, Colman A. Cell therapy and the safety of embryonic stem cell-derived grafts. Trends Biotechnol 2007;25:24-32.
18. Hoffman LM, Hall L, Batten JL, Young H, Pardasani D, Baetge EE, Lawrence J, Carpenter MK. X-inactivation status varies in human embryonic stem cell lines. Stem Cells 2005;23:1468-1478.
19. Huynh KD, Lee JT. Inheritance of a pre-inactivated paternal X chromosome in early mouse embryos. Nature 2003;426:857-862.
20. Kantor B, Kaufman Y, Makedonski K, Razin A, Shemer R. Establishing the epigenetic status of the Prader-Willi/Angelman imprinting center in the gametes and embryo. Hum Mol Genet 2004;13:2767-2779.
21. Keller G. Embryonic stem cell differentiation: emergence of a new era in biology and medicine. Genes Dev 2005;19:1129-1155.
22. Kristiansen M, Langerod A, Knudsen GP, Weber BL, Borresen-Dale AL, Orstavik KH. High frequency of skewed X inactivation in young breast cancer patients. J Med Genet 2002;39:30-33.
23. Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH. Methylation-specific PCR simplifies imprinting analysis. Nat Genet 1997;16:16-17.
24. Kubota T, Nonoyama S, Tonoki H, Masuno M, Imaizumi K, Kojima M, Wakui K, Shimadzu M, Fukushima Y. A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR. Hum Genet 1999;104:49-55.
25. Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 1961;190:372-373.
26. Minks J, Robinson WP, Brown CJ. A skewed view of X chromosome inactivation. J Clin Invest 2008;118:20-23.
27. Monk M, Harper MI. Sequential X chromosome inactivation coupled with cellular differentiation in early mouse embryos. Nature 1979; 281:311-313.
28. Oh SK, Kim HS, Ahn HJ, Seol HW, Kim YY, Park YB, Yoon CJ, Kim DW, Kim SH, Moon SY. Derivation and characterization of new human embryonic stem cell lines: SNUhES1, SNUhES2, and SNUhES3. Stem Cells 2005;23:211-219.
29. Ozbalkan Z, Bagislar S, Kiraz S, Akyerli CB, Ozer HT, Yavuz S, Birlik AM, Calguneri M, Ozcelik T. Skewed X chromosome inactivation in blood cells of women with scleroderma. Arthritis Rheum 2005;52:1564-1570.
30. Pantoja C, de Los Rios L, Matheu A, Antequera F, Serrano M. Inactivation of imprinted genes induced by cellular stress and tumorigenesis. Cancer Res 2005;65:26-33.
31. Peura TT, Bosman A, Stojanov T. Derivation of human embryonic stem cell lines. Theriogenology 2007;67:32-42.
32. Plath K, Fang J, Mlynarczyk-Evans SK, Cao R, Worringer KA, Wang H, de la Cruz CC, Otte AP, Panning B, Zhang Y. Role of histone H3 lysine 27 methylation in X inactivation. Science 2003;300:131-135.
33. Shen Y, Matsuno Y, Fouse SD, Rao N, Root S, Xu R, Pellegrini M, Riggs AD, Fan G. X-inactivation in female human embryonic stem cells is in a nonrandom pattern and prone to epigenetic alterations. Proc Natl Acad Sci USA 2008;105:4709-4714.
34. Silva SS, Rowntree RK, Mekhoubad S, Lee JT. X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells. Proc Natl Acad Sci USA 2008;105:4820-4825.
35. Spagnoli FM, Hemmati-Brivanlou A. Guiding embryonic stem cells towards differentiation: lessons from molecular embryology. Curr Opin Genet Dev 2006;16:469-475.
36. Sperger JM, Chen X, Draper JS, Antosiewicz JE, Chon CH, Jones SB, Brooks JD, Andrews PW, Brown PO, Thomson JA. Gene expression patterns in human embryonic stem cells and human pluripotent germ cell tumors. Proc Natl Acad Sci USA 2003;100:13350-13355.
37. Sun X, Long X, Yin Y, Jiang Y, Chen X, Liu W, Zhang W, Du H, Li S, Zheng Y et al. Similar biological characteristics of human embryonic stem cell lines with normal and abnormal karyotypes. Hum Reprod 2008;23:2185-2193.
38. Thomson JA, Itskovitz-Eldor J, Shapiro SS, Waknitz MA, Swiergiel JJ, Marshall VS, Jones JM. Embryonic stem cell lines derived from human blastocysts. Science 1998;282:1145-1147.
39. Tomkins DJ, McDonald HL, Farrell SA, Brown CJ. Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay. Eur J Hum Genet 2002;10:44-51.
40. Zeng X, Rao MS. Human embryonic stem cells: long term stability, absence of senescence and a potential cell source for neural replacement. Neuroscience 2007;145:1348-1358.
41. Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W. Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method. Hum Mol Genet 1997;6:387-395.