Expression and Cloning of the Human X-Linked Hypophosphatemia Gene cDNA

X-linked hypophosphatemia (XLH), which is a heritable metabolic bone disease characterized biochemically by selective renal phosphate (Pi) wasting, is associated with mutations in the PEX (Phosphate-regulating gene with homologies toEndopeptidases on theX-chromosome) gene. To further explore the phy...

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Bibliographic Details
Published in:Biochemical and biophysical research communications 1997-02, Vol.231 (3), p.635-639
Main Authors: Grieff, Marvin, Mumm, Steven, Waeltz, Paul, Mazzarella, Richard, Whyte, Michael P, Thakker, Rajesh V, Schlessinger, David
Format: Article
Language:English
Subjects:
Amino Acid Sequence
Base Sequence
Cloning, Molecular
DNA, Complementary - genetics
Gene Expression
Humans
Hypophosphatemia - genetics
Introns
Molecular Sequence Data
PHEX Phosphate Regulating Neutral Endopeptidase
Point Mutation
Proteins - genetics
RNA, Messenger - genetics
Species Specificity
X Chromosome
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Summary:X-linked hypophosphatemia (XLH), which is a heritable metabolic bone disease characterized biochemically by selective renal phosphate (Pi) wasting, is associated with mutations in the PEX (Phosphate-regulating gene with homologies toEndopeptidases on theX-chromosome) gene. To further explore the physiologic role of PEX and define its effect in XLH we have determined the expression and tissue distribution. Northern analysis found abundant PEX mRNA in a restricted pattern, predominantly in adult ovary and fetal lung. In addition, PEX expression was also found in adult lung and fetal liver. A PEX cDNA of 2550 basepairs, which contains the full PEX coding region, was isolated from a human ovary cDNA library. The PEX cDNA shows high homology to other membrane-bound zinc metallopeptidases. The presence of PEX in non-osseous tissues strongly suggests features of a systemic role, rather than a unique function in bone development.
ISSN:0006-291X
1090-2104
DOI:10.1006/bbrc.1997.6153