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Mammalian Genome

, Volume 10, Issue 4, pp 385–389 | Cite as

Evidence for Phex haploinsufficiency in murine X-linked hypophosphatemia

  • Liqin  Wang
  • Lisheng  Du
  • Brigitte  Ecarot

Abstract.

Mutations in the PHEX gene (phosphate-regulating gene with homology to endopeptidases on the X-chromosome) are responsible for X-linked hypophosphatemia (HYP). We previously reported the full-length coding sequence of murine Phex cDNA and provided evidence of Phex expression in bone and tooth. Here, we report the cloning of the entire 3.5-kb 3′UTR of the Phex gene, yielding a total of 6248 bp for the Phex transcript. Southern blot and RT-PCR analyses revealed that the 3′ end of the coding sequence and the 3′UTR of the Phex gene, spanning exons 16 to 22, are deleted in Hyp, the mouse model for HYP. Northern blot analysis of bone revealed lack of expression of stable Phex mRNA from the mutant allele and expression of Phex transcripts from the wild-type allele in Hyp heterozygous females. Expression of the Phex protein in heterozygotes was confirmed by Western analysis with antibodies raised against a COOH-terminal peptide of the mouse Phex protein. Taken together, these results indicate that the dominant pattern of Hyp inheritance in mice is due to Phex haploinsufficiency.

Keywords

Peptide Southern Blot Northern Blot Mutant Allele Northern Blot Analysis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag New York Inc. 1999

Authors and Affiliations

  • Liqin  Wang
    • 1
  • Lisheng  Du
    • 1
  • Brigitte  Ecarot
    • 1
  1. 1.Genetics Unit, Shriners Hospital, Departments of Surgery and Human Genetics, McGill University, Montreal, Quebec, Canada H3G 1A6CA

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