A novel transmembrane transporter encoded by the XPCT gene in xq13.2

Ronald G. Lafrenière, Laura Carrel, Huntington F. Willard

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94 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1133-1139
Number of pages7
JournalHuman Molecular Genetics
Volume3
Issue number7
DOIs
StatePublished - Jul 1 1994

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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