Candidate 56 and 58 kDa protein(s) responsible for mediating the renal defects in oncogenic hypophosphatemic osteomalacia

Bone

Volumn 18, Issue 2, 1996, Pages 159-169

  Rowe, Peter S N ^a   Ong, A C M ^a   Cockerill, F J ^a   Goulding, J N ^a   Hewison, M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Hypophosphatemia; Kidney; Oncogenic; Osteomalacia; Phosphate; Vitamin D

Indexed keywords

OXYGENASE; PROTEIN;

ADULT; ARTICLE; BONE TUMOR; CASE REPORT; CELL ADHESION; CELL AGGREGATION; CONCENTRATION RESPONSE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GLUCOSE TRANSPORT; HUMAN; HUMAN CELL; HYPOPHOSPHATEMIA; KIDNEY CELL CULTURE; MOLECULAR WEIGHT; OSTEOMALACIA; PHOSPHATE TRANSPORT; SKIN FIBROBLAST; VITAMIN D METABOLISM;

EID: 0029878274     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/8756-3282(95)00458-0     Document Type: Article

References (59)

1. Aschinberg, L. C., Solomon, L. M., Zeis, P. M., Justice, P., and Rosenthal, I. M. Vitamin D resistant rickets associated with epidermal nevus syndrome: Demonstration of a phosphaturic substance in the dermal lesions. J Paediatr 91:56-60; 1977.
2. Bell, C. L., Tenenhouse, H. S., and Scriver, C. R. Primary cultures of renal epithelial cells from X-linked (Hyp) mice express defects in phosphate transport and vitamin D metabolism. Am J Hum Genet 43:293-303; 1988.
3. Boneh, A., Mandla, S., and Tenenhouse, H. S. Phorbol myristate acetate activates protein kinase C, stimulates the phosphorylation of endogenous proteins and inhibits phosphate transport in mouse renal tubules. Biochim Biophys Acta 1012:308-316; 1989.
4. Cai, Q., Hodgson, S. F., Kao, P. C., Lennon, V. A., KLee, G. G., Zinsmeister, A. R., and Kumar, R. Brief report: Inhibition of renal phosphate transport by a tumour product in a patient with oncogenic osteomalacia. New Engl J Med 330:1645-1649; 1994.
5. Carey, D. E., Drezner, M. K., Hamdan, J. A., Mange, M., Ashmad, M. S., Mubarak, S., and Nyhan, W. L. Hypophosphataemic rickets/osteomalacia in linear sebaceous nevus syndrome: A variant of tumour induced osteomalacia. J Paediatr 109:994-1000; 1986.
6. 3 24-hydroxylase cytochrome P450 messenger ribonucleic acid levels in primary cultures of rat renal cells. Endocrinology 132:1782-1788; 1993.
7. + /Pi) transporter in the control and hypophosphataemic mouse. FASEB J 8:863-867; 1994.
8. Cowgil, L. D., Goldfarlb, S., Lau, K., Slatopolsky, E., and Agus, Z. S. Evidence for an intrinsic renal tubule leak in mice with genetic hypophosphataemic rickets. J Clin Invest 63:1203-1210; 1979.
9. Dent, C. E. and Gertner, J. M. Hypophosphataemic osteomalacia in fibrous dysplasia. Q J Med 45:411-420; 1975.
10. Drezner, M. K. Tumour-associated rickets and osteomalacia. In: Primer on Metabolic Bone Diseases and Disorders of Mineral Metabolism. Favus, M. J., Ed. Kelseyville, CA: American Society for Bone and Mineral Research; 1990; 184-188.
11. Econs, M. J. and Drezner, M. K. Tumour induced osteomalacia - Unveiling a new hormone. N Engl J Med 330:1679-1681; 1994.
12. Econs, M. J., Francis, F., Rowe, P. S. N., Speer, M. C., O'Riordan, J. L. H., Lehrach, H., and Becker, P. A. Dinucleotide repeat polymorphisms at the DXS1683 locus. Hum Mol Genet 3:680; 1994.
13. Econs, M. J., Rowe, P. S. N., Francis, F., Barker, D. F., Speer, M. C., Norman, M., Fain, P., Weissenbach, J., Read, A. P., Davies, K. E., Becker, P. A., Lehrach, H., O'Riordan, J. L. H., and Drezner, M. K. Fine structure mapping of the human X-linked hypophosphataemic rickets gene locus. J Clin Endocrinol Metab 79:1351-1354; 1994.
14. Ford, D. M. and Molitoris, B. A. Abnormal proximal tubule apical membrane composition in X-linked hypophosphataemic mice. Am J Physiol 260:F317-F322; 1991.
15. Francis, F., Rowe, P. S. N., Econs, M. J., See, C. G., Benham, F., O'Riordan, J. L. H., Drezner, M. K., Hamvas, R. M. J., and Lehrach, H. A YAC contig spanning the hypophosphataemic rickets disease gene candidate region. Genomics 21:229-237; 1994.
16. Ghishan, F. K., Knobel, S., Dasuki, M., Butler, M., and Phillips, J. Chromosomal localisation of the human renal sodium phosphate transporter to chromosome 5: Implications for X-linked hypophosphataemia. Paediatr Res 35:510-513; 1994.
17. Giasson, S. D., Brunetti, M. G., Danan, G., Vigneault, N., and Carriere, S. Micropuncture study of renal phosphorus transport in hypophosphataemic vitamin D resistant rickets in mice. Pflugers Arch 371:33-38; 1977.
18. Hahn, C. N., Baker, E., Laslo, P., May, B. K., Omdahl, J. L., and Sutherland, G. R. Localisation of the human vitamin D 24-hydroxylase gene (CYP) to chromosome-20q13.2-q13.3. Cytogenet Cell Genet 62:192-193; 1993.
19. Hewison, M. Tumour induced osteomalacia. Curr Opin Rheumatol 6:340-344; 1994.
20. Heyningen, C. V., Green, A. R. T., MacFarlane, I. A., and Burrow, C. T. Oncogenic hypophosphataemia and ectopic corticotrophin secretion due to oat cell carcinoma of the trachea. J Clin Pathol 47:80-82; 1994.
21. HYP Consortium. Positional cloning of PEX-A gene with homologies to endopeptidases is mutated in patients with X-linked hypophosphataemic rickets. Nat Genet 11:130-136; 1995.
22. Ioakimidis, D., Dendrinos, G. K., Frangia, K. B., Babiolakis, D. N., Chilas, G. I., and Lyberopoulos, K. L. A-4 tumour induced osteomalacia. J Rheumatol 21:1162-1164; 1994.
23. 3 and its physiological implications. Steroids 49:29-53; 1987.
24. Kempson, S. A., McAteer, J. A., Al-Mahrouq, H. A., Dousa, T. P., Dougherty, G. S., and Evan, A. P. Proximal tubule characteristics of cultured human renal cortex epithelium. J Lab Clin Med 113:285-296; 1989.
25. Konishi, K., Nakamura, M., Yamakawa, H., Suzuki, H., Saruta, T., Hanaoka, H., and Davatchi, T. Case report: Hypophosphataemic osteomalacia in von Recklinghausen neurofibromatosis. Am J Med Sci 301:322-328; 1991.
26. Koss, C. H., Tihy, F., Econs, M. J., Murer, H., Lemieux, N., and Tenenhouse, H. S. Localisation of a renal sodium-phosphate co-transporter gene to human chromosome 5q35. Genomics 19:176-177; 1994.
27. Lau, K., Stom, M. C., Goldberg, M., Goldfarlb, S., Gray, R. W., Leman, J., Jr., and Agus, Z. S. Evidence for a humoral phosphaturic factor in oncogenic hypophosphataemic osteomalacia. Clin Res (Abstract) 27:421A; 1979.
28. Lyles, K. W., Berry, W. R., Haussler, M. R., Harrelson, J. M., and Drezner, M. K. Hypophosphataemic osteomalacia: Association with prostrate carcinoma. Ann Intern Med 93:275-278; 1980.
29. 3-24-hydroxylase. Endocrinology 127:2639-2647; 1990.
30. Meyer, R. A., Jr., Meyer, M. A., and Gray, R. Parabiosis suggests a humoral factor is involved in X-linked hypophosphataemia in mice. J Bone Miner Res 4:493-500; 1989.
31. Meyer, R. A., Jr., Tenenhouse, H. S., Meyer, M. A., and Klugerman, A. H. The renal phosphate transport defect in normal mice parabiosed to X-linked hypophosphataemic mice persists after parathyroidectomy. J Bone Miner Res 4:523-532; 1989.
32. Miyauchi, A., Fukase, M., Tsutsumi, M., and Fujita, T. Hemangiopericytoma induced osteomalacia: Tumour transplantation in nude-mice causes hypophosphataemia and tumour extracts inhibit renal 25-hydroxyvitamin D 1α-hydroxylase activity. J Clin Endocrinol Metab 67:46-53; 1988.
33. Murphy, P., Wright, G., and Rai, G. Hypophosphataemic osteomalacia associated with prostatic carcinoma. BMJ 290:1945; 1985.
34. +-phosphate transporter in vitamin D resistant hypophosphataemic mice. J Biol Chem 266:13616-13620; 1991.
35. Nesbitt, T., Coffman, T. M., Griffith, R., and Drezner, M. K. Crosstransplantation of kidneys in normal and Hyp mice. J Clin Invest 89:1453-1459; 1992.
36. Nitzan, D. W., Horowitz, A. T., Darmon, D., Friedlaender, M. M., Rubinger, D., Stein, P., Bab, I., Popovtzer, M. M., and Silver, J. Oncogenic osteomalacia: A case study. Bone Miner 6:191-197; 1989.
37. 3 24-hydroxylase. FEBS Lett 278:195-198; 1991.
38. Ong, A. C. M., Jowett, T. P., Moorhead, J. F., and Owen, J. S. Human high density lipoproteins stimulate endothelin-1 release by cultured human renal proximal tubular cells. Kidney Int 46:1315-1321; 1994.
39. Popovtzer, M. M. Tumour induced hypophosphataemic osteomalacia: Evidence for a phosphaturic cyclic AMP-independent action of tumour extract. Clin Res (Abstract) 29:418A; 1981.
40. Qiu, Z. Q., Tenenhouse, H. S., and Scriver, C. R. Parental origin of mutant allele does not explain absence of gene dose effect in X-linked Hyp mice. Genet Res Camb 62:39-43; 1993.
41. Rowe, P. S. N. Molecular biology of hypophosphataemic rickets and oncogenic osteomalacia. Hum Genet 94:457-467; 1994.
42. Rowe, P. S. N., Francis, F., and Goulding, J. N. Rapid isolation of DNA sequences flanking microsatellite repeats. Nucl Acids Res 22:5135-5136; 1994.
43. Rowe, P. S. N., Goulding, J. N., Francis, F., Oudet, C., Econs, M. J., Hanauer, A., Lehrach, H., Read, A., Mountford, R., Summerfield, T., Weissenbach, J., Fraser, W., Drezner, M. K., Davies, K. E., and O'Riordan, J. L. H. The gene for X-linked hypophosphataemic rickets maps to a 300-400 kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE). Hum Genet 97:345-352; 1996.
44. Rowe, P. S. N., Goulding, J. N., Read, A. P., Francis, F., Lehrach, H., Hanauer, A., Oudet, C., Biancalana, V., Kooh, S. W., Davies, K. E., and O'Riordan, J. L. H. Refining the genetic map for the region flanking the X-linked hypophosphataemic rickets locus (Xp22.1-Xp22.2). Hum Genet 93:291-294; 1994.
45. 3 catabolism in X-linked hypophosphataemic rickets. Endocrinology 134:1761-1767; 1994.
46. Seshadri, M. S., Cornish, C. J., Mason, R. S., and Posen, S. Parathyroid hormone like bioactivity in tumours from patients with oncogenic osteomalacia. Clin Endocr 23:689-697; 1985.
47. +-dependent transport of phosphate across renal brush border membrane. J Biol Chem 261:6375-6383; 1986.
48. Taylor, H. C., Fallon, M. D., and Velasco, M. E. Oncogenic osteomalacia and inappropriate antidiuretic hormone secretion due to oat cell carcinoma. Ann Intern Med 101:786-788; 1984.
49. Tenenhouse, H. S. and Henry, H. L. Protein kinase activity and protein kinase inhibitor in mouse kidney: Effect of the X-linked Hyp mutation and vitamin D status. Endocrinology 117:1719-1726; 1985.
50. Tenenhouse, H. S. and Jones, G. Abnormal regulation of renal vitamin D catabolism by dietary phosphate in murine X-linked hypophosphataemic rickets. J Clin Invest 85:1450-1455; 1990.
51. Tenenhouse, H. S., Klugerman, A. H., and Neal, J. L. Effect of phosphonoformic acid, dietary phosphate and the Hyp mutation on kinetically distinct phosphate transport processes in mouse kidney. Biochim Biophys Acta 984:207-213; 1989.
52. Tenenhouse, H. S., Scriver, C. R., McInnes, R. R., and Glorieux, F. H. Renal handling of phosphate in vivo and in vitro by the X-linked hypophosphataemic male mouse: Evidence for a defect in the brush border membrane. Kidney Int 14:236-244; 1978.
53. +-phosphate co-transport in murine X-linked hypophosphataemic rickets: Molecular characterisation. J Clin Invest 93:671-676; 1994.
54. 3 in murine X-linked hypophosphataemic rickets. J Clin Invest 81:461-465; 1988.
55. Walters, M. R. Newly identified actions of the vitamin D endocrine system. Endocrin Rev 13:719-764; 1992.
56. Weidner, N., and Cruz, D. S. Phosphaturic mesenchymal tumours: A polymorphous group causing osteomalacia rickets. Cancer 59:1442; 1987.
57. Werner, A., Kempson, S. A., Biber, J., and Murer, H. Increase in Na/Pi-cotransport encoding mRNA in response to low Pi diet in rat kidney cortex. J Biol Chem 269:6637-6639; 1994.
58. Werner, A., Moore, M. L., Mantei, N., Biber, J., Semenza, G., and Murer, H. Cloning and expression of cDNA for Na/Pi co-transport system of kidney cortex. Proc Natl Acad Sci USA 88:9608-9612; 1991.
59. Yordy, M. R. and Bowen, J. W. Hypertonic stress in human renal cells. Kidney Int 43:940-948; 1993.