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Nature 349, 38-44 (3 January 1991) | doi:10.1038/349038a0; Accepted 13 November 1990

A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome

Carolyn J. Brown, Andrea Ballabio*, James L. Rupert, Ronald G. Lafreniere, Markus Grompe*, Rossana Tonlorenzi* & Huntington F. Willard†

  1. Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA
  2. *Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
  3. † To whom correspondence should be addressed.
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X-chromosome inactivation results in the cis-limited dosage compensation of genes on one of the pair of X chromosomes in mammalian females. Although most X-linked genes are believed to be subject to inactivation, several are known to be expressed from both active and inactive X chromosomes. Here we describe an X-linked gene with a novel expression pattern—transcripts are detected only from the inactive X chromosome (Xi) and not from the active X chromosome (Xa). This gene, called XIST (for Xi-specific transcripts), is a candidate for a gene either involved in or uniquely influenced by the process of X inactivation.