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Localization of the X inactivation centre on the human X chromosome in Xq13

Nature volume 349, pages 82–84 (1991)Cite this article

Abstract

X-CHROMOSOME inactivation results in the strictly cis-limited inactivation of many but not all genes on one of the two X chromosomes during early development in somatic cells of mammalian females1. One feature of virtually all models of X inactivation is the existence of an X-inactivation centre (XIC) required in cis for inactivation to occur2–5. This concept predicts that all structurally abnormal X chromosomes capable of being inactivated have in common a defineable region of the X chromosome6–8. Here we report an analysis of several such rearranged human X chromosomes and define a minimal region of overlap. The results are consistent with models invoking a single XIC and provide a molecular foothold for cloning and analysing theXIC region. One of the markers that defines this region is theXIST gene9, which is expressed specifically from inactive, but not active, X chromosomes. The localization of the XIST gene to theXIC region on the human X chromosome implicates XIST in some aspect of X inactivation.

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References

  1. Lyon, M. F. Nature 190, 372–373 (1961).

    Article  ADS  CAS  PubMed  Google Scholar 

  2. Lyon, M. F. Nature new Biol. 232, 229–232 (1971).

    Article  CAS  PubMed  Google Scholar 

  3. Russell, L. B. Science 140, 976–978 (1963).

    Article  ADS  CAS  PubMed  Google Scholar 

  4. Gartler, S. M. & Riggs, A. D. A. Rev. Genet. 17, 155–190 (1983).

    Article  CAS  Google Scholar 

  5. Cattanach, B. M. A. Rev. Genet. 9, 1–18 (1975).

    Article  CAS  Google Scholar 

  6. Mattei, M. G., Mattei, J. F., Vidal, I. & Giraud, F. Hum. Genet. 56, 401–408 (1981).

    Article  CAS  PubMed  Google Scholar 

  7. Summitt, R. L., Tipton, R. E., Wilroy, R. S. Jr, Martens, P. & Phelan, J. P. Birth Defects: Orig. Art. Ser. 14, 219–247 (1978).

    CAS  Google Scholar 

  8. Therman, E., Sarto, G. E. & Patau, K. Chromosoma 44, 361–366 (1974).

    Article  CAS  PubMed  Google Scholar 

  9. Brown, C. J. et al. Nature 349, 38–44 (1991).

    Article  ADS  CAS  PubMed  Google Scholar 

  10. Buhler, E. M., Jurik, L. P., Voyame, M. & Buhler, U. K. Nature 265, 142–144 (1977).

    Article  ADS  CAS  PubMed  Google Scholar 

  11. Morishima, A., Grumback, M. M. & Taylor, J. H. Proc. natn. Acad. Sci. U.S.A. 48, 756–763 (1962).

    Article  ADS  CAS  Google Scholar 

  12. Latt, S. A. Expl Cell Res. 86, 412–415 (1974).

    Article  CAS  Google Scholar 

  13. Allderdice, P. W., Miller, O. J., Miller, D. W. & Klinger, H. P. Am. J. med. Genet. 2, 233–240 (1978).

    Article  CAS  PubMed  Google Scholar 

  14. Tantravahi, U. et al. Hum. Genet. 64, 33–38 (1983).

    Article  CAS  PubMed  Google Scholar 

  15. Pettigrew, A. L., McCabe, E. R. B., Elder, F. F. B. & Ledbetter, D. H. Am. J. hum. Genet. 43, A118 (1988).

    Google Scholar 

  16. Mandel, J. L. et al. Cytogenet. Cell Genet. 51, 384–437 (1989).

    Article  CAS  PubMed  Google Scholar 

  17. Mahtani, M. M. & Willard, H. F. Genomics 2, 294–301 (1988).

    Article  CAS  PubMed  Google Scholar 

  18. Brown, C. J., Powers, V. E., Monroe, D. M., Sheinin, R. & Willard, H. F. Somat. Cell molec Genet. 15, 93–96 (1989).

    Article  CAS  PubMed  Google Scholar 

  19. Brown, C. J. et al. Am. J. hum. Genet. 44, 264–269 (1989).

    CAS  PubMed  PubMed Central  Google Scholar 

  20. Keer, J. T. et al. Genomics 7, 566–572 (1990).

    Article  CAS  PubMed  Google Scholar 

  21. Johnston, P. G. & Cattanach, B. M. Genet. Res. 37, 151–160 (1981).

    Article  CAS  PubMed  Google Scholar 

  22. Brown, C. J., Fienniken, A., Williams, B. & Willard, H. F. Nucleic Acids Res. 18, 4191–4195 (1990).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  23. Wang, T. et al. Proc. natn. Acad Sci. U.S.A. 82, 5270–5274 (1985).

    Article  ADS  CAS  Google Scholar 

  24. Brown, S. W. & Chandra, H. S. Proc. natn. Acad. Sci. U.S.A. 70, 195–199 (1973).

    Article  ADS  CAS  Google Scholar 

  25. Rastan, S. J. Embryol. exp. Morph. 78, 1–22 (1983).

    CAS  PubMed  Google Scholar 

  26. Schneider-Gadicke, A., Beer-Romero, P., Brown, L. G., Nussbaum, R. & Page, D. C. Cell 57, 1247–1258 (1989).

    Article  CAS  PubMed  Google Scholar 

  27. Brown, C. J. & Willard, H. F. Am. J. hum. Genet. 45, 273–279 (1990).

    Google Scholar 

  28. Mohandas, T. et al. Proc. natn. Acad. Sci. U.S.A. 84, 4954–4958 (1987).

    Article  ADS  CAS  Google Scholar 

  29. Rastan, S. & Robertson, E. J. J. Embryol. exp. Morph. 90, 379–388 (1985).

    CAS  PubMed  Google Scholar 

  30. Lyon, M. F. et al. J. Embryol. exp. Morph. 97, 75–85 (1986).

    CAS  PubMed  Google Scholar 

  31. Riggs, A. D. Aust. J. Zool. 37, 419–441 (1990).

    Article  Google Scholar 

  32. Sharp, C. B., Bedford, H. M. & Willard, H. F. Hum. Genet. 85, 330–336 (1990).

    Article  CAS  PubMed  Google Scholar 

  33. Wong, S. W. et al. EMBO J. 7, 37–47 (1988).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Author notes

  1. Huntington F. Willard: To whom correspondence should be addressed

Authors and Affiliations

  1. Department of Genetics, Stanford University School of Medicine, Stanford, California, 94305, USA

    Carolyn J. Brown, Ronald G. Lafreniere, Vicki E. Powers & Huntington F. Willard

  2. Department of Pediatrics, Second Faculty of Medicine, University of Naples, Naples, Italy

    Gianfranco Sebastio

  3. Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA

    Andrea Ballabio, Anjana L. Pettigrew & David H. Ledbetter

  4. Genetics Laboratory, University of Oxford, Oxford, OX3 9DU, UK

    Elaine Levy & Ian W. Craig

Authors
  1. Carolyn J. Brown
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  2. Ronald G. Lafreniere
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  4. Gianfranco Sebastio
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  6. Anjana L. Pettigrew
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  7. David H. Ledbetter
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  8. Elaine Levy
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  9. Ian W. Craig
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  10. Huntington F. Willard
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Brown, C., Lafreniere, R., Powers, V. et al. Localization of the X inactivation centre on the human X chromosome in Xq13. Nature 349, 82–84 (1991). https://doi.org/10.1038/349082a0

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