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Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers.
J Bone Miner Res 2000; 15(8):1440-50JB

Abstract

Mutations in PHEX, a phosphate-regulating gene with homology to endopeptidases on the X chromosome, are responsible for X-linked hypophosphatemia (XLH). The murine Hyp homologue has the phenotypic features of XLH and harbors a large deletion in the 3' region of the Phex gene. We characterized the developmental expression and tissue distribution of Phex protein, using a monoclonal antibody against human PHEX, examined the effect of the Hyp mutation on Phex expression, and compared neprilysin (NEP), osteocalcin, and parathyroid hormone/parathyroid hormone-related protein (PTH/PTHrP) receptor gene expression in bone of normal and Hyp mice. Phex encodes a 100- to 105-kDa glycoprotein, which is present in bones and teeth of normal mice but not Hyp animals. These results were confirmed by in situ hybridization (ISH) and ribonuclease protection assay. Phex protein expression in femur and calvaria decreases with age, suggesting a correlation between Phex expression and bone formation. Immunohistochemical studies detected Phex protein in osteoblasts, osteocytes, and odontoblasts, but not in osteoblast precursors. In contrast to Phex, the abundance of NEP messenger RNA (mRNA) and protein is not significantly altered in Hyp bone. Similarly, osteocalcin and PTH/PTHrP receptor gene expression are not compromised in bone of Hyp mice. Our results are consistent with the hypothesis that loss of Phex function affects the mineralizing activity of osteoblasts rather than their differentiation.

Authors+Show Affiliations

Département de Biochimie, Université de Montréal, Canada.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10934642

Citation

Ruchon, A F., et al. "Developmental Expression and Tissue Distribution of Phex Protein: Effect of the Hyp Mutation and Relationship to Bone Markers." Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, vol. 15, no. 8, 2000, pp. 1440-50.
Ruchon AF, Tenenhouse HS, Marcinkiewicz M, et al. Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers. J Bone Miner Res. 2000;15(8):1440-50.
Ruchon, A. F., Tenenhouse, H. S., Marcinkiewicz, M., Siegfried, G., Aubin, J. E., DesGroseillers, L., ... Boileau, G. (2000). Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers. Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 15(8), pp. 1440-50.
Ruchon AF, et al. Developmental Expression and Tissue Distribution of Phex Protein: Effect of the Hyp Mutation and Relationship to Bone Markers. J Bone Miner Res. 2000;15(8):1440-50. PubMed PMID: 10934642.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers. AU - Ruchon,A F, AU - Tenenhouse,H S, AU - Marcinkiewicz,M, AU - Siegfried,G, AU - Aubin,J E, AU - DesGroseillers,L, AU - Crine,P, AU - Boileau,G, PY - 2000/8/10/pubmed PY - 2001/2/28/medline PY - 2000/8/10/entrez SP - 1440 EP - 50 JF - Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research JO - J. Bone Miner. Res. VL - 15 IS - 8 N2 - Mutations in PHEX, a phosphate-regulating gene with homology to endopeptidases on the X chromosome, are responsible for X-linked hypophosphatemia (XLH). The murine Hyp homologue has the phenotypic features of XLH and harbors a large deletion in the 3' region of the Phex gene. We characterized the developmental expression and tissue distribution of Phex protein, using a monoclonal antibody against human PHEX, examined the effect of the Hyp mutation on Phex expression, and compared neprilysin (NEP), osteocalcin, and parathyroid hormone/parathyroid hormone-related protein (PTH/PTHrP) receptor gene expression in bone of normal and Hyp mice. Phex encodes a 100- to 105-kDa glycoprotein, which is present in bones and teeth of normal mice but not Hyp animals. These results were confirmed by in situ hybridization (ISH) and ribonuclease protection assay. Phex protein expression in femur and calvaria decreases with age, suggesting a correlation between Phex expression and bone formation. Immunohistochemical studies detected Phex protein in osteoblasts, osteocytes, and odontoblasts, but not in osteoblast precursors. In contrast to Phex, the abundance of NEP messenger RNA (mRNA) and protein is not significantly altered in Hyp bone. Similarly, osteocalcin and PTH/PTHrP receptor gene expression are not compromised in bone of Hyp mice. Our results are consistent with the hypothesis that loss of Phex function affects the mineralizing activity of osteoblasts rather than their differentiation. SN - 0884-0431 UR - https://www.unboundmedicine.com/medline/citation/10934642/Developmental_expression_and_tissue_distribution_of_Phex_protein:_effect_of_the_Hyp_mutation_and_relationship_to_bone_markers_ L2 - https://doi.org/10.1359/jbmr.2000.15.8.1440 DB - PRIME DP - Unbound Medicine ER -