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

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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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  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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  3. Vicki E. Powers
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  4. Gianfranco Sebastio
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  5. Andrea Ballabio
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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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  • DOI: https://doi.org/10.1038/349082a0

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