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Nature. 1991 Jan 3;349(6304):38-44.

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

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


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.

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