Positional cloning of the PEX gene: New insights into the pathophysiology of X-linked hypophosphatemic rickets

American Journal of Physiology - Renal Physiology

Volumn 273, Issue 4 42-4, 1997, Pages

  Econs, Michael J ^a,c   Francis, Fiona ^b  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c INDIANA UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Endopeptidase; Hypophosphatemia; Osteomalacia; X chromosome

Indexed keywords

ANIMAL MODEL; CHROMOSOME 5Q; CHROMOSOME MAP; GENE LOCATION; HUMAN; HYPOPHOSPHATEMIA; MOLECULAR CLONING; MOUSE; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; RICKETS; X CHROMOSOME LINKAGE;

EID: 0030691747     PISSN: 1931857X     EISSN: 15221466     Source Type: Journal    
DOI: 10.1152/ajprenal.1997.273.4.f489     Document Type: Review

References (90)

1. Albertsen, H. M., H. Abderrahim, H. M. Cann, J. Dausset, D. Lepaslier, and D. Cohen. Construction and characterization of a yeast artificial chromosome library containing 7 haploid human genome equivalents. Proc. Natl. Acad. Sci. USA 87: 4256-4260, 1990.
2. Arnaud, C., F. Glorieux, and C. Scriver. Serum parathyroid hormone in X-linked hypophosphatemia. Science 173: 845-847, 1971.
3. Beck, L., Y. Soumounou, J. Martel, G. Krishnamurthy, C. Gauthier, C. G. Goodyear, and H. S. Tenenhouse. 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: 1200-1209, 1997
4. Botstein, D., R. L. White, M. H. Skolnick, and R. W. Davis. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet. 32: 314-331, 1980.
5. Buckler, A. J., D. D. Chang, S. L. Graw, J. D. Brook, D. A. Haber, P. A. Sharp, and D. E. Housman. Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proc. Natl. Acad. Sci. USA 88: 4005-4009, 1991.
6. Cai, Q., S. F. Hodgson, P. C. Kao, V. A. Lennon, G. G. Klee, A. R. Zinsmiester, and R. Kumar. Inhibition of renal phosphate transport by a tumor product in a patient with oncogenic osteomalacia. N. Engl. J. Med. 330: 1645-9, 1994.
7. Cao, X. Y., X. M. Jiang, Z. H. Dou, M. A. Rakeman, M. L. Zhang, K. O'Donnell, T. Ma, K. Amette, N. DeLong, and G. R. DeLong. Timing of vulnerability of the brain to iodine deficiency in endemic cretinism. N. Engl. J. Med. 331: 1739-1744, 1994.
8. Collins, F. Positional cloning moves from perditional to traditional. Nat. Genet. 9: 347-350, 1995.
9. Collins, J. F., A. L. Scheving, and F. K. Ghishan. Decreased transcription of the sodium-phosphate transporter gene in the hypophosphatemic mouse. Am. J. Physiol. 269 (Renal Fluid Electrolyte Physiol. 38): F439-F448, 1995.
10. Collins, J. F., and F. K. Ghishan. The molecular defect in the renal sodium-phosphate transporter expression pathway of Gyro (Gy) mice is distinct from that of hypophosphatemic (Hyp) mice. FASEB J. 10: 751-759, 1996.
11. Cowgill, L. D., S. Goldfarb, K. Lau, E. Slatopolsky, and Z. S. Agus. Evidence for an intrinsic renal tubular defect in mice with genetic hypophosphatemic rickets. J. Clin. Invest. 63: 1203-1210, 1979.
12. Cunningham, J., H. Gomes, Y. Seino, and L. R. Chase. Abnormal 24-hydroxylation of 25-hydroxyvitamin D in the X-linked hypophosphatemic mouse. Endocrinology 112: 633-637, 1983.
13. D'Adamio, L., M. A. Shipp, E. L. Masteller, and E. L. Reinherz. Organization of the gene encoding common acute lymphoblastic leukemia antigen (neutral endopeptidase 24.11): multiple miniexons and separate 5′ untranslated regions. Proc. Natl. Acad. Sci. USA 86: 7103-7107, 1989.
14. Davidai, G. A., T. Nesbitt, and M. K. Drezner. Normal regulation of calcitriol production in Gy mice: evidence for biochemical heterogeneity in the X-linked hypophosphatemic diseases. J. Clin. Invest. 85: 334-339, 1990.
15. Dixon, P. H., C. Wooding, D. Trump, D. Schlessinger, M. P. Whyte, and R. V. Thakker. Seven novel mutations in the PEX gene indicate molecular heterogeneity for X-linked hypophosphatemic rickets (Abstract). J. Bone Miner. Res. 11: S136, 1996.
16. Drezner, M. K., and M. R. Haussler. Correspondence. N. Engl. J. Med. 300: 435, 1979.
17. Du, L., M. Desbarats, J. Viel, F. H. Glorieux, C. Cawthorn, and B. Ecarot. cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. Genomics 36: 22-28, 1996.
18. Ecarot, B., F. H. Glorieux, M. Desbarats, R. Travers, and L. Labelle. 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, 1995.
19. Ecarot, B., F. H. Glorieux, M. Desbarats, R. Travers, and L. Labelle. Defective bone formation by hyp-mouse bone cells transplanted into normal mice: evidence in favor of an intrinsic osteoblast defect. J. Bone Miner. Res. 7: 215-220, 1992.
20. Ecarot-Charrier, B., F. H. Glorieux, R. Travers, M. Desbarats, F. Bouchard, and A. Hinek. Defective bone formation by transplanted hyp-mouse bone cells into normal mice. Endocrinology 123: 768-773, 1988.
21. Econs, M. J., D. F. Barker, M. C. Speer, M. A. Pericak-Vance, P. R. Fain, and M. K. Drezner. Multilocus mapping of the X-linked hypophosphatemic rickets gene. J. Clin. Endocrinol. Metab. 75: 201-206, 1992.
22. Econs, M. J., and M. K. Drezner. Bone disease resulting from inherited disorders of renal tubule transport and vitamin D metabolism. In: Disorders of Bone and Mineral Metabolism, edited by M. J. Favus and F. L. Coe. New York: Raven, 1992, p. 935-950.
23. Econs, M. J., and M. K. Drezner. Tumor-induced osteomalacia: unveiling a new hormone. N. Engl. J. Med. 330: 1679-1681, 1994.
24. Econs, M. J., P. R. Fain, M. Norman, M. C. Speer, M. A. Pericak-Vance, P. A. Becker, D. F. Barker, A. Taylor, and M. K. Drezner. Flanking markers define the X-linked hypophosphatemic rickets gene locus. J. Bone Miner. Res. 8: 1149-1152 1993.
25. Econs, M. J., F. Francis, P. S. N. Rowe, M. C. Speer, J. O'Riordan, H. Lehrach, and P. A. Becker. Dinucleotide repeat polymorphism at the DXS1683 locus. Hum. Mol. Genet. 3: 680, 1994.
26. Econs, M. J., P. S. N. Rowe, F. Francis, D. F. Barker, M. C. Speer, M. Norman, P. R. Fain, J. Weissenbach, A. Read, K. E. Davies, P. A. Becker, H. Lehrach, J. O'Riordan, and M. K. Drezner. Fine structure mapping of the human X-linked hypophosphatemic rickets gene locus. J. Clin. Endocrinol. Metab. 79: 1351-1354, 1994.
27. Eicher, E. M., J. L. Southard, C. R. Scriver, and F. H. Glorieux. Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc. Natl. Acad. Sci. USA 73: 4667-4671, 1976.
28. Emoto, N., and M. Yanagisawa. Endothelin-converting enzyme-2 is a membrane bound, phosphoramidon-sensitive metalloprotease with acidic pH optimum. J. Biol. Chem. 270: 15262-15268, 1995
29. Francis, F., P. S. N. Rowe, M. J. Econs, C. G. See, F. Benham, J. L. H. O'Riordan, M. K. Drezner, R. M. J. Hamvas, H. Lehrach. AYAC contig spanning the hypophosphatemic rickets gene candidate region. Genomics 21: 229-237, 1994.
30. Francis, F., T. M. Strom, S. Hennig, A. Boeddrich, B. Lorenz, O. Brandau, K. L. Mohnike, M. Cagnoli, C. Steffens, S. Klages, K. Borzym, T. Pohl, C. Oudet, M. J. Econs, P. S. N. Rowe, R. Reinhardt, T. Meitinger, and H. Lehrach. Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets. Genome Res. 7: 573-585, 1997.
31. Glorieux, F. H., P. J. Marie, J. M. Pettifor, and E. E. Delvin. Bone response to phosphate salts, ergocalciferol, and calcitriol in hypophosphatemic vitamin D-resistant rickets. N. Engl. J. Med. 303: 1023-1031, 1980.
32. Grieff, M., S. Mumm, P. Waeltz, R. Mazzarella, M. P. Whyte, R. V. Thakker, and D. Schlessinger. Expression and cloning of the human X-linked hypophosphatemia gene cDNA. Biochem. Biophys. Res. Commun. 231: 635-639, 1997.
33. Harrell, R. M., K. W. Lyles, J. M. Harrelson, N. E. Friedman, and M. K. Drezner. Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia. J. Clin. Invest. 75: 1858-1867, 1985.
34. Haussler, M. R., M. Hughes, D. Baylink, E. T. Littledike, D. Corke, and M. Pitt. Influence of phosphate depletion on the biosynthesis and circulating level of 1,25-dihydroxyvitamin D. Adv. Exp. Med. Biol. 81: 233-250, 1977.
35. Holm, I. A., X. Huang, and L. M. Kunkel. Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am. J. Hum. Genet. 60: 790-797, 1997.
36. Hooper, N. M. Families of zinc metalloproteases. FEBS Lett. 354: 1-6, 1994.
37. Hughes, M. R., P. F. Brumbaugh, M. R. Haussler, J. E. Wergedal, and D. J. Baylink. Regulation of serum 1,25-dihydroxyvitamin D by calcium and phosphate in the rat. Science 190: 578-580, 1975.
38. HYP Consortium. Positional cloning of PEX: a gene with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nat. Genet. 11: 130-136, 1995.
39. Kay, G., R. V. Thakker, and S. Rastan. Determination of a molecular map position for Hyp using a new interspecific back-cross produced by in vitro fertilization. Genomics 11: 651-657, 1991.
40. Kos, C. H., F. Tihy, M. J. Econs, H. Murer, N. Lemieux, and H. S. Tenenhouse. Localization of a renal sodium phosphate cotransporter gene to human chromosome 5q35. Genomics 19: 176-177, 1994.
41. Kozak, M. An analysis of 5′ noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res. 15: 8125-8148, 1987.
42. Kozak, M. An analysis of vertebrate mRNA sequences: intimations of translational control. J. Cell Biol. 115: 887-903, 1991.
43. Lajeunesse, D., R. A. Meyer, Jr., and L. Hamel. Direct demonstration of a humorally-mediated inhibition of renal phosphate transport in the Hyp mouse. Kidney Int. 50: 1531-1538, 1996.
44. Larin, Z., A. P. Monaco, and H. Lehrach. Yeast artificial chromosome libraries containing large inserts from mouse and human DNA. Proc. Natl. Acad. Sci. USA 88: 4123-4127, 1991.
45. Lee, S., E. D. Zambas, W. L. Marsh, and C. M. Redman. Molecular cloning and primary structure of Kell blood group protein. Proc. Natl. Acad. Sci. USA 88: 6353-6357, 1991.
46. Le Moual, H., A. Devault, B. P. Roques, P. Crine, and G. Boileau. Identification of glutamic acid-646 as a zinc-coordinating residue in endopeptidase-24-11. J. Biol. Chem. 266: 15670-15674, 1991.
47. Le Moual, H., N. Dion, B. P. Roques, P. Crine, and G. Boileau. Asp650 is crucial for catalytic activity of neutral endopeptidase 24-11. Eur. J. Biochem. 221: 475-480, 1994.
48. Litt, M., and J. A. Luty. Ahypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am. J. Hum. Genet. 44: 397-401, 1989.
49. Lobaugh, B., and M. K. Drezner. Abnormal regulation of renal 25-hydroxyvitamin D-1α-hydroxylase activity in the X-linked hypophosphatemic mouse. J. Clin. Invest. 71: 400-403, 1983.
50. Lovett, M., J. H. Kere, and L. M. Hinton. Direct selection: a method for the isolation of cDNAs encoded by large genomic regions. Proc. Natl. Acad. Sci. USA 88: 9628-9632, 1991.
51. Lyles, K. W., E. J. Burkes, Jr., C. R. McNamara, J. M. Harrelson, J. P. Pickett, and M. K. Drezner. The concurrence of hypoparathyroidism provides new insights to the pathophysiology of X-linked hypophosphatemic rickets. J. Clin. Endocrinol. Metab. 60: 711-717, 1985.
52. Lyles, K. W., A. G. Clark, and M. K. Drezner. Serum 1,25-dihydroxyvitamin D levels in subjects with X-linked hypophosphatemic rickets and osteomalacia. Calcif. Tissue Int. 34: 125-130, 1982.
53. Lyles, K. W., J. M. Harrelson, and M. K. Drezner. The efficacy of vitamin D2 and oral phosphorus therapy in X-linked hypophosphatemic rickets and osteomalacia. J. Clin. Endocrinol. Metab. 54: 307-315, 1982.
54. Lyon, M. F., C. R. Scriver, L. R. I. Baker, H. S. Tenenhouse, J. Kronick, and S. Mandla. The Gy mutation: another cause of X-linked hypophosphatemia in mouse. Proc. Natl. Acad. Sci. USA 83: 4899-4903, 1986.
55. Machler, M., D. Frey, A. Gai, U. Orth, T. F. Wienker, A. Fanconi, and W. Schmid. X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22. Hum. Genet. 73: 271-275, 1986.
56. Meyer, R. A., Jr., R. W. Gray, and M. H. Meyer. Abnormal vitamin D metabolism in the X-linked hypophosphatemic mouse. Endocrinology 107: 1577-1581, 1980.
57. Meyer, R. A., Jr., M. H. Meyer, and R. W. Gray. Parabiosis suggests a humoral factor is involved in X-linked hypophosphatemia in mice. J. Bone Miner. Res. 4: 493-500, 1989.
58. Meyer, R. A., Jr., M. H. Meyer, R. W. Gray, and M. E. Bruns. Femoral abnormalities and vitamin D metabolism in X-linked hypophosphatemic (Hyp and Gy) mice. J. Orthop. Res. 13: 30-40, 1995.
59. Meyer, R. A., Jr., M. H. Meyer, and P. L. Morgan. Effects of altered diet on serum levels of 1,25-dihydroxyvitamin D and parathyroid hormone in X-linked hypophosphatemic (Hyp and Gy) mice. Bone 18: 23-28, 1996.
60. Morgan, J. M., W. L. Hawley, A. I. Chenoweth, W. J. Retan, and A. G. Diethelm. Renal Transplantation in hypophosphatemia with vitamin D-resistant rickets. Arch. Intern. Med. 134: 549-552, 1974.
61. Nesbitt, T., T. M. Coffman, R. Griffiths, and M. K. Drezner. Cross-transplantation of kidneys in normal and Hyp mice: evidence that the Hyp phenotype is unrelated to an intrinsic renal defect. J. Clin. Invest. 89: 1453-1459, 1992.
62. Nesbitt, T., M. J. Econs, J. K. Byun, J. Martel, H. S. Tenenhouse, and M. K. Drezner. Phosphate transport in immortalized cell cultures from the renal proximal tubule of normal and Hyp mice: evidence that the HYP gene locus product is an extrarenal factor. J. Bone Miner. Res. 10: 1-7. 1995.
63. Nesbitt, T., K. E. Masters, and M. K. Drezner. Normal phosphate transport in cell cultures from the proximal convoluted tubule of Gy-mice: evidence for a single defect underlying X-linked hypophosphatemia (Abstract). J. Bone Min. Res. 11, Suppl.: S136, 1996.
64. Olsen, H. S., M. A. Cepeda, Q. Q. Zhang, C. A. Rosen, B. L. Vozzolo, and G. F. Wagner. Human stanniocalcin: a possible hormonal regulator of mineral metabolism. Proc. Natl. Acad. Sci. USA 93: 1792-1796, 1996.
65. Portale, A. A, B. P. Halloran, M. M. Murphy, and R. C. Morris, Jr. Oral intake of phosphorus can determine the serum concentration of 1,25-dihydroxyvitamin D by determining its production rate in humans. J. Clin. Invest. 77: 7-12, 1986.
66. Qiu, Z. Q., H. S. Tenenhouse, and C. R. Scriver. Parental origin of mutant allele does not explain absence of gene dose in X-linked Hyp mice. Genet. Res. 62: 39-43, 1993.
67. Read, A. P., R. V. Thakker, K. E. Davies, R. C. Mountford, D. P. Brenton, M. Davies, F. Glorieux, R. Harris, G. N. Hendy, A. King, S. McGlade, C. J. Peacock, R. Smith, and J. L. H. O'Riordan. Mapping of human X-linked hypophosphatemic rickets by multilocus linkage analysis. Hum. Genet. 73: 267-270, 1986.
68. Rosenbaum, R. W., K. A. Hruska, A. Korkor, C. Anderson, and E. Slatopolsky. Decreased phosphate reabsorption after renal transplantation: evidence for a mechanism independent of calcium and parathyroid hormone. Kidney Int. 19: 568-578, 1981.
69. Rowe, P. S. N., F. Francis, and J. Goulding. Rapid isolation of DNA sequences flanking microsatellite repeats. Nucleic Acids Res. 22: 5135-5136, 1994.
70. Rowe, P. S. N., J. N. Goulding, F. Francis, C. Oudet, M. J. Econs, A. Hanauer, H. Lehrach, A. P. Read, R. C. Mountford, T. Summerfield, J. Weissenbach, W. Fraser, M. K. Drezner, K. E. Davies, and J. L. H. O'Riordan. The gene for X-linked hypophosphatemic rickets maps to a 200-300 kb region in Xp22.1-Xp22.2, and is located on a single YAC containing a putative vitamin D response element (VDRE). Hum. Genet. 97: 345-352, 1996.
71. Rowe, P. S. N., J. Goulding, A. Read, R. Mountford, A. Hanauer, C. Oudet, M. P. Whyte, S. Meier-Ewert, H. Lehrach, K. E. Davies, and J. L. H. O'Riordan. New markers for linkage analysis of hypophosphatemic rickets. Hum. Genet. 91: 571-575, 1993.
72. 2+ metalloprotease). Hum. Mol. Genet. 6: 539-549, 1997.
73. Rowe, P. S. N., A. P. Read, R. Mountford, F. Benham, T. A. Kruse, G. Camerino, K. E. Davies, and L. H. O'Riordan. Three DNA markers for hypophosphatemic rickets. Hum. Genet. 89: 539-542, 1992.
74. Schmidt, M., B. Kroger, E. Jacob, H. Seulberger, T. Subkowski, R. Otter, T. Meyer, G. Schmalzing, and H. Hillen. Molecular characterization of human and bovine endothelin converting enzyme (ECE-1). FEBS Lett. 356: 238-243, 1994.
75. Scriver, C. R., T. M. Reade, H. F. DeLuca, and A. J. Hamstra. Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease. N. Engl. J. Med. 299: 976-979, 1978.
76. Scriver, C. R., and H. S. Tenenhouse. X-linked hypophosphatemia: a homologous phenotype in humans and mice with unusual organ-specific gene dosage. J. Inherit. Metab. Dis. 15: 610-624, 1992.
77. Seino, Y., T. Shimotsuji, M. Ishida, T. Ishii, K. Yamaoka, and H. Yabuuchi. Vitamin D metabolism in hypophosphatemic vitamin D-resistant rickets. Contrib. Nephrol. 22: 101-106, 1980.
78. Sonin, N. V., R. T. Taggart, M. H. Meyer, and R. A. Meyer, Jr. Molecular mapping of the mouse Gy mutation on chromosome X. Mouse Genome 94: 491-493, 1996.
79. Strom, T. M., F. Francis, B. Lorenz, A. Boeddrich, M. J. Econs, H. Lehrach, and T. Meitinger. Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia. Hum. Mol. Genet. 6: 165-171, 1997.
80. +-phosphate cotransporter gene expression in X-linked Hyp and Gy mice. Kidney Int. 49: 1027-1032, 1996.
81. Tenenhouse, H. S., A. H. Klugerman, and J. Neal. 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.
82. Tenenhouse, H. S., R. A. Meyer, Jr., S. Mandla, M. H. Meyer, and R. W. Gray. Renal phosphate transport and vitamin D metabolism in X-linked hypophosphatemic Gy mice: responses to phosphate deprivation. Endocrinology 131: 51-56, 1992.
83. Tenenhouse, H. S., C. R. Scriver, R. R. McInnes, and F. H. Glorieux. Renal handling of phosphate in vivo and in vitro by the X-linked hypophosphatemic male mouse: evidence for a defect in the brush border membrane. Kidney Int. 14: 235-244, 1978.
84. +-phosphate cotransport in murine X-linked hypophosphatemic rickets. J. Clin. Invest. 93: 671-676, 1994.
85. 3 in murine X-linked hypophosphatemic rickets. J. Clin. Invest. 81: 461-465, 1988.
86. Thakker, R. V., A. P. Read, K. E. Davies, M. P. Whyte, R. Weksberg, F. Glorieux, M. Davies, R. C. Mountford, R. Harris, A. King, G. S. Kim, D. Fraser, S. W. Kooh, and J. L. H. O'Riordan. Bridging markers defining the map position of X-linked hypophosphatemic rickets. J. Med. Genet. 24: 756-760, 1987.
87. Weber, J. L., and P. E. May. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44: 388-396, 1989.
88. Werner, A., M. L. Moore, N. Mantei, J. Biber, G. Slemenza, and H. Murer. Cloning and expression of cDNA for a Na/Pi cotransport system of kidney cortex. Proc. Natl. Acad. Sci. USA 88: 9608-9612, 1991.
89. Whyte, M. P., F. W. Schranck, and R. Armamento-Villareal. X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J. Clin. Endocrinol. Metab. 81: 4075-4080, 1996.
90. Xu, D., N. Emoto, A. Giaid, C. Slaughter, S. Kaw, D. deWit, and M. Yanagisawa. ECE-1: a membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1. Cell 78: 473-485, 1994.