© 1994 Oxford University Press
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A novel transmembrane transporter encoded by the XPCT gene in Xq13.2
1Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine Cleveland, OH 44106, USA 2Department of Genetics, Stanford University School of Medicine Stanford, CA 94305, USA
*To whom correspondence should be addressed
Received March 21, 1994; Revised May 6, 1994; Accepted May 6, 1994
To study the regulation and chromosomal basis of X chromosome inactivation, we have physically characterized the region in Xq13.2 known to contain the X inactivation center (XIC), a locus required in cis for inactivation to occur. Here, we report a novel gene isolated by positional cloning in this region. The gene (previously identified as DXS128E) encodes a predicated 67 kDa protein containing twelve hydrophobic transmembrane domains, characteristic of a family of transporter proteins. Presence of an N-terminal PEST domain, consisting mainly of proline/glutamic acid repeats, suggests that the protein may be rapidly or conditionally degraded. We designate this gene XPCT for X-linked PEST-containing transporter. Expression studies suggest that XPCT is subject to X chromosome inactivation, being expressed only from the active X, despite mapping within 600 kb of the XIST gene which is expressed exclusively from the inactive X. Thus, a chromosomal switch in inactivation pattern occurs between these two genes on the X chromosome.
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