A novel transmembrane transporter encoded by the XPCT gene in Xq13.2

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 r...

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Bibliographic Details
Published in:Human molecular genetics 1994-07, Vol.3 (7), p.1133-1139
Main Authors: Lafrenière, Ronald G., Carrel, Laura, Willard, Huntington F.
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Animals
Base Sequence
Biological and medical sciences
Carrier Proteins - chemistry
Carrier Proteins - genetics
Chromosome Mapping
Dosage Compensation, Genetic
expression
Female
Fundamental and applied biological sciences. Psychology
gene products
Genes
Genes. Genome
Humans
Hybrid Cells
man
Membrane Proteins - chemistry
Membrane Proteins - genetics
Membrane Transport Proteins
Molecular and cellular biology
Molecular genetics
Molecular Sequence Data
Monocarboxylic Acid Transporters
nucleotide sequence
Open Reading Frames
PEST-containing transporter
predictions
Sequence Alignment
Sequence Homology, Amino Acid
X Chromosome
X-chromosome inactivation
XPCT gene
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Summary: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.
ISSN:0964-6906
1460-2083
DOI:10.1093/hmg/3.7.1133