Tags

Type your tag names separated by a space and hit enter

cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone.
Genomics. 1996 Aug 15; 36(1):22-8.G

Abstract

The recently identified human PEX gene apparently encodes for a neutral endopeptidase that is mutated in patients with X-linked hypophosphatemia. The 3' and 5' ends of the coding region of PEX have not been cloned, nor has the tissue expression of the gene been identified. Here we report the isolation and characterization of the complete open reading frame of the mouse Pex gene and the demonstration of its expression in bone. Mouse Pex cDNA is predicted to encode a protein of 749 amino acids with 95% identity to the available human PEX sequence and significant homology to members of the membrane-bound metalloendopeptidase family. Northern blot analysis revealed a 6.6-kb transcript in bone and in cultured osteoblasts from normal mice that was not detectable in samples from the Hyp mouse, the murine homolog of human X-linked hypophosphatemia. Pex transcripts were, however, detectable in Hyp bone by RT-PCR amplification. Of particular interest, a cDNA clone from rat incisor shows 93% sequence identity to the 5' end of Pex cDNA, suggesting that Pex may be expressed in another calcified tissue, the tooth. The association of impaired mineralization of bone and teeth and disturbed renal phosphate reabsorption with altered expression of Pex suggests that the Pex gene product may play a critical role in these processes.

Authors+Show Affiliations

Genetics Unit, McGill University, Montreal, Quebec, H3G 1A6, Canada.No 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

8812412

Citation

Du, L, et al. "CDNA Cloning of the Murine Pex Gene Implicated in X-linked Hypophosphatemia and Evidence for Expression in Bone." Genomics, vol. 36, no. 1, 1996, pp. 22-8.
Du L, Desbarats M, Viel J, et al. CDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. Genomics. 1996;36(1):22-8.
Du, L., Desbarats, M., Viel, J., Glorieux, F. H., Cawthorn, C., & Ecarot, B. (1996). CDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. Genomics, 36(1), 22-8.
Du L, et al. CDNA Cloning of the Murine Pex Gene Implicated in X-linked Hypophosphatemia and Evidence for Expression in Bone. Genomics. 1996 Aug 15;36(1):22-8. PubMed PMID: 8812412.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. AU - Du,L, AU - Desbarats,M, AU - Viel,J, AU - Glorieux,F H, AU - Cawthorn,C, AU - Ecarot,B, PY - 1996/8/15/pubmed PY - 1996/8/15/medline PY - 1996/8/15/entrez SP - 22 EP - 8 JF - Genomics JO - Genomics VL - 36 IS - 1 N2 - The recently identified human PEX gene apparently encodes for a neutral endopeptidase that is mutated in patients with X-linked hypophosphatemia. The 3' and 5' ends of the coding region of PEX have not been cloned, nor has the tissue expression of the gene been identified. Here we report the isolation and characterization of the complete open reading frame of the mouse Pex gene and the demonstration of its expression in bone. Mouse Pex cDNA is predicted to encode a protein of 749 amino acids with 95% identity to the available human PEX sequence and significant homology to members of the membrane-bound metalloendopeptidase family. Northern blot analysis revealed a 6.6-kb transcript in bone and in cultured osteoblasts from normal mice that was not detectable in samples from the Hyp mouse, the murine homolog of human X-linked hypophosphatemia. Pex transcripts were, however, detectable in Hyp bone by RT-PCR amplification. Of particular interest, a cDNA clone from rat incisor shows 93% sequence identity to the 5' end of Pex cDNA, suggesting that Pex may be expressed in another calcified tissue, the tooth. The association of impaired mineralization of bone and teeth and disturbed renal phosphate reabsorption with altered expression of Pex suggests that the Pex gene product may play a critical role in these processes. SN - 0888-7543 UR - https://www.unboundmedicine.com/medline/citation/8812412/cDNA_cloning_of_the_murine_Pex_gene_implicated_in_X_linked_hypophosphatemia_and_evidence_for_expression_in_bone_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0888-7543(96)90421-8 DB - PRIME DP - Unbound Medicine ER -