Developmental expression and tissue distribution of Phex protein: Effect of the Hyp mutation and relationship to bone markers

Journal of Bone and Mineral Research

Volumn 15, Issue 8, 2000, Pages 1440-1450

  Ruchon, Andréa Frota ^a,b   Tenenhouse, Harriet S ^c   Marcinkiewicz, Mieczyslaw ^d   Siegfried, Géraldine ^c   Aubin, Jane E ^e   Desgroseillers, Luc ^a   Crine, Philippe ^a   Boileau, Guy ^a  

^a UNIVERSITÉ DE MONTRÉAL   (Canada)

^b FEDERAL UNIVERSITY OF CEARÁ   (Brazil)

^c RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

Endopeptidase; Odontoblast; Osteoblast; Osteocyte; X linked hypophosphatemia

Indexed keywords

DNA; MEMBRANE METALLOENDOPEPTIDASE; MESSENGER RNA; MONOCLONAL ANTIBODY; OSTEOCALCIN; PARATHYROID HORMONE; PARATHYROID HORMONE RELATED PROTEIN; PROTEIN; PROTEINASE;

ANIMAL TISSUE; ARTICLE; BONE; CONTROLLED STUDY; GENE; GENE EXPRESSION; GENE MUTATION; HYPOPHOSPHATEMIA; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; MOUSE; NONHUMAN; ODONTOBLAST; OSTEOBLAST; OSTEOCYTE; PHENOTYPE; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RIBONUCLEASE PROTECTION ASSAY; TISSUE DISTRIBUTION;

EID: 0033915030     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.2000.15.8.1440     Document Type: Article

References (57)

1. McKusick VA 1994 Mendelian Inheritance in Man: Catalogs of Human Genes and Genetic Disorders, 11th ed. John Hopkins University Press, Baltimore, MD, U.S.A.
2. Rasmussen H, Tenenhouse HS 1995 Mendelian hypophosphatemias. In The Metabolic and Molecular Basis of Inherited Disease. Scriver CR, Beaudet AL, Sly WS, Valle D (eds.) McGraw Hill Book Co., New York NY, U.S.A., pp. 3717-3745.
3. The HYP Consortium 1995 A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat Genet 11:130-136.
4. Holm IA, Huang X, Kundel LM 1997 Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet 60:790-797.
5. Rowe PS, Oudet CL, Francis F, Sinding C, Pannetier S, Econs MJ, Strom TM, Meitinger T, Garabedian M, David A, Macher MA, Questiaux E, Popowska E, Pronicka E, Read AP, Mokrzycki A, Glorieux FH, Drezner MK, Hanauer A, Lehrach H, Goulding JN, O'Riordan JL 1997 Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP). Hum Mol Genet 6:539-549.
6. Francis F, Strom TM, Hennig S, Böddrich A, Lorenz B, Brandau O, Mohnike KL, Cagnoli M, Steffens C, Klages S, Borzym K, Pohl T, Oudet C, Econs MJ, Rowe PS, Reinhardt R, Meitinger T, Lehrach H 1997 Genomic organization of the human PEX gene mutated in X-linked hypophosphatemic rickets. Genome Res 7:573-585.
7. Dixon PH, Christie PT, Wooding C, Trump D, Grieff M, Holm I, Gertner JM, Schmidtke J, Shah B, Shaw N, Smith C, Tau C, Schlessinger D, Whyte MP, Thakker RV 1998 Mutational analysis of the PHEX gene in X-linked dominant hypophosphataemia. J Clin Endocrinol Metab 83:3615-3623.
8. Filisetti D, Ostermann G, von Bredow M, Strom T, Filler G, Ehrich J, Pannetier S, Garnier JM, Rowe P, Francis F, Julienne A, Hanauer A, Econs M, Oudet C 1999 Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. Eur J Hum Genet 7:615-619.
9. Beck L, Soumounou Y, Martel J, Krishnamurthy G, Gauthier C, Goodyer CG, Tenenhouse HS 209 1997 Pex/PEX tissue distribution and evidence for a deletion in the 3′ region of the Pex gene in X-linked hypophosphatemic mice. J Clin Invest 99:1200-1201.
10. Du L, Desbarats M, Viel J, Glorieux FH, Cawthorn C, Ecarot B 1996 cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. Gemonics 36:22-28.
11. Guo R, Quarles LD 1997 Cloning and sequencing of human PEX from a bone cDNA library: Evidence for its developmental stage-specific regulation in osteoblasts. J Bone Miner Res 12:1009-1017.
12. Lipman ML, Panda D, Bennett HPJ, Henderson JE, Shane E, Shen Y, Goltzman D, Karaplis AC 1998 Cloning of human Pex cDNA. Expression, subcellular localization, and endopeptidase activity. J Biol Chem 273:13729-13737.
13. Grieff M, Mumm S, Waeltz P, Mazzarella R, Whyte MP, Thakker RV, Schlessinger D 1997 Expression and cloning of the human X-linked hypophosphatemia gene cDNA. Biochem Biophys Res Commun 231:635-639.
14. Ruchon AF, Marcinkiewicz, M, Siegfried G, Tenenhouse HS, DesGroseillers L, Crine P, Boileau G 1998 Pex mRNA is localized in developing mouse osteoblasts and odontoblasts. J Histochem Cytochem 46:1-10.
15. Kumar R 1997 Phosphatonin - a new phosphaturetic hormone? (Lessons from tumor induced osteomalacia and X-linked hypophosphatemia). Nephrol Dial Transplant 12:11-13.
16. Econs MJ, Drezner MK 1994 Tumor-induced osteomalacia -unveiling a new hormone. N Engl J Med 330:1679-1681.
17. Rowe PS 1994 Molecular biology of hypophosphataemic rickets and oncogenic osteomalacia. Hum Genet 94:457-467.
18. Eicher EM, Southard JL, Scriver CR, Glorieux FH 1976 Hypophosphatemia: Mouse model for human familial hypophosphatemic (vitamin D resistant) rickets. Proc Natl Acad Sci USA 73:4667-4671.
19. Lyon MF, Seriver CR, Baker LRI, Tenenhouse HS, Kronick J, Mandla S 1986 The Gy mutation: Another cause of X-linked hypophosphatemia in mouse. Proc Natl Acad Sci USA 83:4899-4903.
20. Strom TM, Francis F, Lorenz B, Böddrich A, Econs MJ, Lehrach H, Meitinger T 1997 Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. Hum Mol Genet 6:165-171.
21. Tenenhouse HS, Scriver CR 1978 The defect in transcellular transport of phosphate in the nephron is located in brush-border membranes in X-linked hypophosphatemia (Hyp mouse model). Can J Biochem 56:640-646.
22. Tenenhouse HS, Werner A, Biber J, Ma S, Martel J, Roy S, Murer H 1994 Renal Na(+)-phosphate cotransport in murine X-linked hypophosphatemic rickets. Molecular characterization. J Clin Invest 93:671-676.
23. Tenenhouse HS 1983 Abnormal renal mitochondrial 25-hydroxyvitamin D3-1-hydroxylase activity in the vitamin D and calcium deficient X-linked Hyp mouse. Endocrinology 113:816-818.
24. Tenenhouse HS, Yip A, Jones G 1988 Increased renal catabolism of 1,25-dihydroxyvitamin D3 in murine X-linked hypophosphatemic rickets. J Clin Invest 81:461-465.
25. Tenenhouse HS, Jones G 1990 Abnormal regulation of renal vitamin D catabolism by dietary phosphate in murine X-linked hypophosphatemic rickets. J Clin Invest 85:1450-1455.
26. Ecarot-Charrier B, Glorieux FH, Travers R, Desbarats M, Bouchard F, Hinek A 1988 Detective bone formation by transplanted Hyp mouse bone cells into normal mice. Endocrinology 123:768-773.
27. Ecarot B, Glorieux FH, Desbarats M, Travers R, Labelle L 1992 Defective bone formation in Hyp mouse bone cells transplanted into normal mice: Evidence in favor of an intrinsic osteoblast defect. J Bone Miner Res 7:215-220.
28. Ecarot B, Glorieux FH, Desbarats M, Travers R, Labelle L 1992 Effect of dietary phosphate deprivation and supplementation of recipient mice on bone formation by transplanted cells from normal and X-linked hypophosphatemic mice. J Bone Miner Res 7:523-530.
29. Ecarot B, Glorieux FH, Desbarats M, Travers R, Labelle L 1995 Effect of 1,25-dihydroxyvitamin D3 treatment on bone formation by transplanted cells from normal and X-linked hypophosphatemic mice. J Bone Miner Res 10:424-431.
30. Tenenhouse HS 1999 X-linked hypophosphataemia: a homologous disorder in humans and mice. Nephrol Dial Transplant 14:333-341.
31. Prado VF, Lee CH, Zahed L, Vekemans M, Nishioka Y 1992 Molecular characterization of a mouse Y chromosomal repetitive sequence that detects transcripts in the testis. Cytogenet Cell Genet 61:87-90.
32. Crine P, LeGrimellec C, Lemieux E, Labonte L, Fortin S, Blachier A, Aubry M 1985 The production and characterization of a monoclonal antibody specific for the 94,000 dalton enkephalin-degrading peptidase from rabbit kidney brush border. Biochem Biophys Res Commun 131:255-261.
33. Jalal F, Jumaire C, Bawab W, Corbeil D. Malo C, Berteloot A, Crine P 1992 Polarized distribution of neutral endopeptidase 24.11 at the cell surface of cultured human intestinal epithelial caco-2 cells. Biochem J 288:945-951.
34. Lemay G, Waksman G, Roques BP, Crine P, Boileau G 1989 Fusion of a cleavable signal peptide to the ectodomain of neutral endopeptidase (EC3.4.24.11) results in the secretion of an active enzyme in COS-I cells. J Biol Chem 264:15620-15623.
35. Roy P, Chatellard C, Lemay G, Crine P, Boileau G 1993 Transformation of the signal peptide/membrane anchor domain of a type II transmembrane protein into a clevable signal peptide. J Biol Chem 268:2699-2704.
36. Celeste AJ, Rosen V, Buecker JL, Kriz R, Wang EA, Wozney JM 1986 Isolation of the human gene for bone gla protein utilizing mouse and rat cDNA clones. EMBO J 5:1885-1890.
37. Tenenhouse HS, Roy S, Martel J, Gauthier C 1998 Differential expression, abundance, and regulation of Na+-phosphate cotransporter genes in murine kidney. Am J Physiol 275:F527-F534.
38. 3 down-regulates expression of Phex, a marker of the mature osteoblast. Endocrinology 140:1192-1199.
39. Lafrance MH, Vézina C, Wang Q, Boileau G, Crine P, Lemay G 1994 Role of glycosylation in transport and enzymic activity of neutral endopeptidase-24.11. Biochem J 302:451-454.
40. Hammond C, Helenius A 1995 Quality control in the secretory pathway. Curr Opin Cell Biol 7:523-529.
41. Marie PJ, Travers R, Glorieux FH 1981 Healing of rickets with phosphate supplementation in the hypophosphatemic male mouse. J Clin Invest 67:911-914.
42. Marie PJ, Travers R, Glorieux FH 1982 Bone response to phosphate and vitamin D metabolites in the hypophosphatemic male mouse. Calcif Tissue Int 34:158-164.
43. Marie PJ, Travers R, Glorieux FH 1982 Healing of bone lesions with 1,25-dihydroxyvitamin D3 in the young X-linked hypophosphatemic male mouse. Endocrinology 111:904-911.
44. Van der Rest M, de Miguel E, Glorieux FH 1981 The collagen crosslinking in the hypophosphatemic male mouse. Calcif Tissue Int 33:77-79.
45. Delvin EE, Richard P, Desbarats M, Ecarot-Charrier B, Glorieux FH 1990 Cultured osteoblasts from normal and hypophosphatemic mice: calcitriol receptors and biological response to the hormone. Bone 11:87-94.
46. Beck L, Karaplis AC, Amizuka N, Hewson AS, Ozawa H, Tenenhouse HS 1998 Targeted inactivation of NPT2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. Proc Natl Acad Sci U S A 95:5372-5377.
47. Xiao ZS, Crenshaw M, Guo R, Nesbitt T, Drezner MK, Quarles LD 1998 Intrinsic mineralization defect in Hyp mouse osteoblasts. Am J Physiol 275:E700-E708.
48. Lajeunesse D, Delalandre A 1998 Evidence that the putative phosphaturic product present in Hyp mouse may be modified, not produced, by osteoblasts and bone marrow stromal cells. Bone 5:SA076.
49. Dubois SG, Lajeunesse D 1999 Evidence that a neutral endopeptidase-like activity of Hyp mouse osteoblasts is responsible for the elaboration of the inhibitor of phosphate uptake by renal cells. J Bone Miner Res 14:S224.
50. Liu F, Malaval L, Gupta AK, Aubin JE 1994 Simultaneous detection of multiple bone-related mRNAs and protein expression during osteoblast differentiation: Polymerase chain reaction and immunocytochemical studies at the single cell level. Dev Biol 166:220-234.
51. Desbois C, Hogue DA, Karsenty G 1994 The mouse osteocalcin gene cluster contains three genes with two separate spatial and temporal patterns of expression. J Biol Chem 269:1183-1190.
52. Romberg RW, Werness PG, Riggs LB, Mann KG 1986 Inhibition of hydroxyapatite crystal growth by bone-specific and other calcium-binding proteins. Biochemistry 25:1176-1180.
53. Price PA, Williamson MK, Haba T, Dell RB, Jee WSS 1982 Excessive mineralization with growth plate closure in rats on chronic warfarin treatment. Proc Natl Acad Sci U S A 79: 7734-7738.
54. Glowacki J, Rey C, Glimcher MJ, Cox KA, Lian J 1991 A role for osteocalcin in osteoclast differentiation. J Cell Biochem 45:292-302.
55. Ducy P, Desbois C, Boyce B, Pinero G, Story B, Dunstan C, Smith E, Bonadio J, Goldstein S, Gundberg C, Bradley A, Karsenty G 1996 Increased bone formation in osteocalcin-deficient mice. Nature 382:448-452.
56. Gundberg CM, Clough ME, Carpenter TO 1992 Development and validation of a radioimmunoassay for mouse osteocalcin: Paradoxical response in the Hyp mouse. Endocrinology 130: 1909-1915.
57. Carpenter TO, Moltz KC, Ellis B, Andreoli M, McCarthy TL, Centrella M, Bryan D, Gundberg CM 1998 Osteocalcin production in primary osteoblast cultures derived from normal and Hyp mice. Endocrinology 139:35-43.