Expression and cloning of the human X-linked hypophosphatemia gene cDNA

Marvin Grieff, Steven Mumm, Paul Waeltz, Richard Mazzarella, Michael P. Whyte, Rajesh V. Thakker, David Schlessinger

Research output: Contribution to journalArticle

47 Scopus citations

Abstract

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 to Endopeptidases on the X-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 base-pairs, 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 nonosseous tissues strongly suggests features of a systemic role, rather than a unique function in bone development.

Original languageEnglish
Pages (from-to)635-639
Number of pages5
JournalBiochemical and Biophysical Research Communications
Volume231
Issue number3
DOIs
StatePublished - Feb 24 1997

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