Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia

Journal of Bone and Mineral Research

Volumn 14, Issue 12, 1999, Pages 2015-2026

  Fedde, Kenton N ^a   Blair, Libby ^a   Silverstein, Julie ^a   Coburn, Stephen P ^b   Ryan, Lawrence M ^c   Weinstein, Robert S ^d   Waymire, Katrina ^e   Narisawa, Sonoko ^a   Millán, José L ^f,g   MacGregor, Grant R ^e   Whyte, Michael P ^a,h  

^a BARNES JEWISH HOSPITAL   (United States)

^b Fort Wayne State Developmental Center   (United States)

^c MEDICAL COLLEGE OF WISCONSIN   (United States)

^d UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^e EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f BURNHAM INSTITUTE   (United States)

^g UMEÅ UNIVERSITY   (Sweden)

^h SHRINERS HOSPITAL FOR CHILDREN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; CALCIUM; PHOSPHATE; PHOSPHOETHANOLAMINE; PYRIDOXAL 5 PHOSPHATE; PYROPHOSPHATE;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BONE DEFECT; BONE MINERALIZATION; BONE RADIOGRAPHY; FEMALE; HISTOLOGY; HYPOPHOSPHATASIA; KNOCKOUT MOUSE; MALE; METABOLIC DISORDER; MOUSE; NONHUMAN; OSTEOID;

EID: 0033386205     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.1999.14.12.2015     Document Type: Article

References (44)

1. Whyte MP. Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds.) The Metabolic and Molecular Bases of Inherited Disease, 8th Ed. McGraw-Hill, New York, NY, U.S.A., in press.
2. Whyte MP 1994 Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 15:439-461.
3. Zurutuza L, Muller F, Gibrat JF, Traillandier A, Simon-Bouy B, Serre JL, Mornet E 1999 Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet 8:1039-1046.
4. Whyte MP. Hypophosphatasia. In: Econs MC (eds.) The Genetics of Osteoporosis and Metabolic Bone Disease. Humana Press. Inc., Totowa, NJ, U.S.A., in press.
5. Fraser D 1957 Hypophosphatasia. Am J Med 22:730-746.
6. Barcia JP, Strife CF, Langman CB 1997 Infantile hypophosphatasia: Treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. J Pediatr 130:825-828.
7. Whyte MP, Kurtzburg J, Gottesman GS, McAlister WH, Coburn SP, Ryan LM, Miller C, Martin PL 1998 Marked clinical and radiographic improvement in infantile hypophosphatasia transiently after haploidentical bone marrow transplantation. Bone 5 (Suppl 1):S191.
8. 6. Nat Genet 11:45-51.
9. Narisawa S, Frohlander N, Millan JL 1997 Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia. Dev Dyn 208:432-446.
10. MacGregor GR, Zambrowicz BP, Soriano P 1995 Tissue non-specific alkaline phosphatase is expressed in both embryonic and extraembryonic lineages during mouse embryogenesis but is not required for migration of primordial germ cells. Development 121:1487-1496.
11. Fedde KN, Whyte MP 1990 Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5′-phosphate ectophosphatase: Normal and hypophosphatasia fibroblast study. Am J Hum Genet 47:767-775.
12. Anderegg G, Flaschka H, Sallmann HR, Schwarzenbach G 1954 Ein auf Erdalkaliionen ansprechendes Phtalein und seine analytische Verwendung. Helv Chim Acta 37:113.
13. Kessler G, Wolfman M 1964 An automated procedure for the simultaneous determination of calcium and phosphorus. Clin Chem 10:686.
14. Daly JA, Ertingshausen G 1972 Direct method for determining inorganic phosphate in serum with the "CentrifiChem." Clin Chem 18:263-265.
15. Fiske CH, SubbaRow Y 1925 The colorimetric determination of phosphorus. J Biol Chem 66:375.
16. Jaffé M 1886 Über den Niederschlag, welchen Picrinsaüre in normalen Harn erzeugt und über eine neue Reaction des Kreatinins. Hoppe Seylers Z Physiol Chem 10:391.
17. Whyte MP, Landt M, Ryan LM, Mulivor RA, Henthorn PS, Fedde KN, Mahuren JD, Coburn SP 1995 Alkaline phosphatase: Placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5′-phosphate: Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy. J Clin Invest 95:1440-1445.
18. 6 vitamers: Cation exchange HPLC. J Nutr Biochem 1:659-663.
19. Fallon MD, Teitelbaum SL 1980 A simple procedure for the rapid histologic diagnosis of metabolic bone diseases. Metab Bone Dis Rel Res 28:459-461.
20. Jilka RL, Weinstein RS, Takahashi K, Parfitt AM, Manolagas SC 1996 Linkage of decreased bone mass with impaired osteoblastogenesis in a murine model of accelerated senescence. J Clin Invest 97:1732-1740.
21. McGee-Russell SM 1958 Histochemical methods for calcium. J Histochem Cytochem 6:22.
22. Masson PJ 1929 J Tech Meth 12:75-90.
23. 6 metabolism. J Clin Invest 76:752-756.
24. 6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5′-phosphate. J Clin Invest 81:1234-1239.
25. Chines A, Coburn SP, Mahuren D, Landt M, Ryan L, Whyte MP 1994 Hypophosphatasia (HPP): Diagnostic sensitivity of assay for alkaline phosphatase (ALP), phosphoethanolamine (PEA), inorganic pyrophosphate (PPi) and pyridoxal 5′-phosphate (PLP). J Bone Miner Res 9 (Suppl 1):S425 (abstract).
26. Posen S, Whyte MP, Coburn SP, Freeman R, Collins F, Fedde KN, Bye A 1997 Infantile hypophosphatasia with fatal status epilepticus. J Bone Miner Res 12 (Suppl 1): S528 (abstract).
27. Takahashi T, Iwantanti Mizuno AS, Morishita Y, Nishio H, Kodama S, Matsuo T 1984 The relationship between phosphoethanolamine level in serum and intractable seizure on hypophosphatasia infantile form. In: Cohn DV, Fugita T, Potts JT, Talmage RV Jr. (eds.) Endocrine Control of Bone and Calcium Metabolism, Vol 8B. Excerpta Medica, Amsterdam, The Netherlands, pp. 93-94.
28. Kinnett DG, Wilcox FH 1982 Partial characterization of two mouse liver alkaline phosphatases that require manganese for activity. Int J Biochem 14:977-981.
29. Lyon MF, Rastan S, Brown SDM 1996 Genetic Variants and Strains of the Laboratory Mouse, 3rd Ed. Oxford University Press, Oxford, U.K.
30. Ornoy A, Adomian GE, Rimoin DL 1985 Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. Am J Med Genet 22:743-758.
31. Fallon MD, Teitelbaum SL, Weinstein RS, Goldfischer S, Brown DM, Whyle MP 1984 Hypophosphatasia: Clinicopathologic comparison of the infantile, childhood, and adult forms. Medicine (Baltimore) 63:12-24.
32. Anderson HC, Hsu HHT, Morris DC, Fedde KN, Whyte MP 1997 Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. Am J Pathol 151:1555-1561.
33. Cancedda R, Descalzi F, Cancedda F, Castagnola P 1995 Chondrocyte differentiation. Int Rev Cytol 159:265-358.
34. Karsenty G 1998 Genetics of skeletogenesis. Dev Genet 22:301-313.
35. Volk SW, Leboy PS 1999 Regulating the regulators of chondrocyte hypertrophy. J Bone Miner Res 14:483-486.
36. Nemir M, DeVouge MW, Mukherjee BB 1989 Normal rat kidney cells secrete both phosphorylated and nonphosphorylated forms of osteopontin showing different physiological properties. J Biol Chem 264:18202-18208.
37. Singh K, DeVouge MW, Mukherjee BB 1990 Physiological properties and differential glycosylation of phosphorylated and nonphosphorylated forms of osteopontin secreted by normal rat kidney cells. J Biol Chem 265:18696-18701.
38. Fedde KN, Ambroziak B, LaBanca C, Henthorn PS, Whyte MP 1994 Alkaline phosphatase modulates phosphorylation of three extracellular proteins: A hypophospliatasia fibroblast study. J Bone Miner Res 9:A172 (abstract).
39. Bonyadi M, Rusholme SA, Cousins F, Su HC, Biron CA, Farrall M, Akhurst RJ 1997 Mapping of a major genetic modifier of embryonic lethality in TGF beta 1 knockout mice. Nat Genet 15:207-211.
40. LeCouter JE, Kablar B, Hardy WR, Ying C, Megeney LA, May LL, Rudnicki MA 1998 Strain-depending myeloid hyperplasia, growth deficiency, and accelerated cell cycle in mice lacking the Rb-related p107 gene. Mol Cell Biol 18:7455-7465.
41. LeCouter JE, Kablar B, Whyte PFM, Ying C, Rudnicki MA 1998 Strain-dependent embryonic lethality in mice lacking the retinoblastoma-related p130 gene. Development 125:4669-4679.
42. Rozmahel R, Wilschanski M, Matin A, Plyte S, Oliver M, Auerbach W, Moore A, Forstner J, Durie P, Nadeau J, Bear C, Tsui LC 1996 Modulation of disease severity of cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet 12:280-287.
43. Sibilia M, Wagner EF 1995 Strain-dependent epithelial defects in mice lacking the EGF receptor. Science 269:234-238.
44. Threadgill DW, Dlugosz AA, Hansen LA, Tennenbaum T, Lichti U, Yee D, LaMantia C, Mourton T, Herrup K, Harris RC 1995 Targeted disruption of mouse EGF receptor: Effect of genetic background on mutant phenotype. Science 269:230-234.