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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1997 Jul;61(1):33–39. doi: 10.1086/513892

XIST expression in human oocytes and preimplantation embryos.

R Daniels 1, M Zuccotti 1, T Kinis 1, P Serhal 1, M Monk 1
PMCID: PMC1715845  PMID: 9245982

Abstract

During mouse preimplantation development, the exclusive expression of the Xist gene from the paternally inherited allele is thought to play a role in the inactivation of the paternally inherited X chromosome in the extra-embryonic cell lineages of the developing female embryo. Recently, inactivation of the paternally inherited X chromosome has also been shown to occur in the extraembryonic cell lineages of the human female conceptus. In this paper, we determine whether the pattern of XIST expression in human preimplantation embryos is similarly correlated with paternal X inactivation. We developed procedures sensitive to the single cell, for the simultaneous analysis of XIST and HPRT expression and of sexing, initially using human fibroblast cells. Application of these procedures to human cleavage-stage embryos derived by in vitro fertilization revealed a pattern of XIST expression different from that in the mouse. Transcripts of the XIST gene were detected as early as the 1-cell zygote and, with increasing efficiency, through to the 8-cell stage of preimplantation development. In addition, transcripts of XIST were detected in both male (hence from the maternally inherited allele) and female preimplantation embryos. This pattern of expression is not consistent with a role for the early expression of the XIST gene in the choice of paternal X inactivation in the extraembryonic cell lineages of the developing human embryo.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Ao A., Erickson R. P., Winston R. M., Handyside A. H. Transcription of paternal Y-linked genes in the human zygote as early as the pronucleate stage. Zygote. 1994 Nov;2(4):281–287. doi: 10.1017/s0967199400002100. [DOI] [PubMed] [Google Scholar]
  2. Borsani G., Tonlorenzi R., Simmler M. C., Dandolo L., Arnaud D., Capra V., Grompe M., Pizzuti A., Muzny D., Lawrence C. Characterization of a murine gene expressed from the inactive X chromosome. Nature. 1991 May 23;351(6324):325–329. doi: 10.1038/351325a0. [DOI] [PubMed] [Google Scholar]
  3. Brockdorff N., Ashworth A., Kay G. F., Cooper P., Smith S., McCabe V. M., Norris D. P., Penny G. D., Patel D., Rastan S. Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome. Nature. 1991 May 23;351(6324):329–331. doi: 10.1038/351329a0. [DOI] [PubMed] [Google Scholar]
  4. Brown C. J., Ballabio A., Rupert J. L., Lafreniere R. G., Grompe M., Tonlorenzi R., Willard H. F. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature. 1991 Jan 3;349(6304):38–44. doi: 10.1038/349038a0. [DOI] [PubMed] [Google Scholar]
  5. Brown C. J., Hendrich B. D., Rupert J. L., Lafrenière R. G., Xing Y., Lawrence J., Willard H. F. The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus. Cell. 1992 Oct 30;71(3):527–542. doi: 10.1016/0092-8674(92)90520-m. [DOI] [PubMed] [Google Scholar]
  6. Clemson C. M., McNeil J. A., Willard H. F., Lawrence J. B. XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure. J Cell Biol. 1996 Feb;132(3):259–275. doi: 10.1083/jcb.132.3.259. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Daniels R., Kinis T., Serhal P., Monk M. Expression of the myotonin protein kinase gene in preimplantation human embryos. Hum Mol Genet. 1995 Mar;4(3):389–393. doi: 10.1093/hmg/4.3.389. [DOI] [PubMed] [Google Scholar]
  8. Fiddler M., Abdel-Rahman B., Rappolee D. A., Pergament E. Expression of SRY transcripts in preimplantation human embryos. Am J Med Genet. 1995 Jan 2;55(1):80–84. doi: 10.1002/ajmg.1320550121. [DOI] [PubMed] [Google Scholar]
  9. Gibbs R. A., Nguyen P. N., McBride L. J., Koepf S. M., Caskey C. T. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A. 1989 Mar;86(6):1919–1923. doi: 10.1073/pnas.86.6.1919. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Goto T., Wright E., Monk M. Paternal X-chromosome inactivation in human trophoblastic cells. Mol Hum Reprod. 1997 Jan;3(1):77–80. doi: 10.1093/molehr/3.1.77. [DOI] [PubMed] [Google Scholar]
  11. Harper M. I., Fosten M., Monk M. Preferential paternal X inactivation in extraembryonic tissues of early mouse embryos. J Embryol Exp Morphol. 1982 Feb;67:127–135. [PubMed] [Google Scholar]
  12. Harrison K. B. X-chromosome inactivation in the human cytotrophoblast. Cytogenet Cell Genet. 1989;52(1-2):37–41. doi: 10.1159/000132835. [DOI] [PubMed] [Google Scholar]
  13. Kay G. F., Barton S. C., Surani M. A., Rastan S. Imprinting and X chromosome counting mechanisms determine Xist expression in early mouse development. Cell. 1994 Jun 3;77(5):639–650. doi: 10.1016/0092-8674(94)90049-3. [DOI] [PubMed] [Google Scholar]
  14. Kay G. F., Penny G. D., Patel D., Ashworth A., Brockdorff N., Rastan S. Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation. Cell. 1993 Jan 29;72(2):171–182. doi: 10.1016/0092-8674(93)90658-d. [DOI] [PubMed] [Google Scholar]
  15. LYON M. F. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961 Apr 22;190:372–373. doi: 10.1038/190372a0. [DOI] [PubMed] [Google Scholar]
  16. McCarrey J. R., Dilworth D. D. Expression of Xist in mouse germ cells correlates with X-chromosome inactivation. Nat Genet. 1992 Nov;2(3):200–203. doi: 10.1038/ng1192-200. [DOI] [PubMed] [Google Scholar]
  17. Monk M., Harper M. I. Sequential X chromosome inactivation coupled with cellular differentiation in early mouse embryos. Nature. 1979 Sep 27;281(5729):311–313. doi: 10.1038/281311a0. [DOI] [PubMed] [Google Scholar]
  18. Nakahori Y., Hamano K., Iwaya M., Nakagome Y. Sex identification by polymerase chain reaction using X-Y homologous primer. Am J Med Genet. 1991 Jun 15;39(4):472–473. doi: 10.1002/ajmg.1320390420. [DOI] [PubMed] [Google Scholar]
  19. Panning B., Jaenisch R. DNA hypomethylation can activate Xist expression and silence X-linked genes. Genes Dev. 1996 Aug 15;10(16):1991–2002. doi: 10.1101/gad.10.16.1991. [DOI] [PubMed] [Google Scholar]
  20. Penny G. D., Kay G. F., Sheardown S. A., Rastan S., Brockdorff N. Requirement for Xist in X chromosome inactivation. Nature. 1996 Jan 11;379(6561):131–137. doi: 10.1038/379131a0. [DOI] [PubMed] [Google Scholar]
  21. Ray P. F., Conaghan J., Winston R. M., Handyside A. H. Increased number of cells and metabolic activity in male human preimplantation embryos following in vitro fertilization. J Reprod Fertil. 1995 May;104(1):165–171. doi: 10.1530/jrf.0.1040165. [DOI] [PubMed] [Google Scholar]
  22. Richardson B. J., Czuppon A. B., Sharman G. B. Inheritance of glucose-6-phosphate dehydrogenase variation in kangaroos. Nat New Biol. 1971 Mar 31;230(13):154–155. doi: 10.1038/newbio230154a0. [DOI] [PubMed] [Google Scholar]
  23. Rupert J. L., Brown C. J., Willard H. F. Direct detection of non-random X chromosome inactivation by use of a transcribed polymorphism in the XIST gene. Eur J Hum Genet. 1995;3(6):333–343. doi: 10.1159/000472322. [DOI] [PubMed] [Google Scholar]
  24. Sharman G. B. Late DNA replication in the paternally derived X chromosome of female kangaroos. Nature. 1971 Mar 26;230(5291):231–232. doi: 10.1038/230231a0. [DOI] [PubMed] [Google Scholar]
  25. Takagi N., Sasaki M. Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse. Nature. 1975 Aug 21;256(5519):640–642. doi: 10.1038/256640a0. [DOI] [PubMed] [Google Scholar]
  26. West J. D., Frels W. I., Chapman V. M., Papaioannou V. E. Preferential expression of the maternally derived X chromosome in the mouse yolk sac. Cell. 1977 Dec;12(4):873–882. doi: 10.1016/0092-8674(77)90151-9. [DOI] [PubMed] [Google Scholar]

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