Per gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia

Human Molecular Genetics

Volumn 6, Issue 2, 1997, Pages 165-171

  Strom, Tim M ^a   Francis, Fiona ^b   Lorenz, Bettina ^a   Böddrich, Annett ^b   Econs, Michael J ^c   Lehrach, Hans ^b   Meitinger, Thomas ^a  

^a UNIVERSITY OF MUNICH   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE METALLOENDOPEPTIDASE; PHEX PROTEIN, HUMAN; PHEX PROTEIN, MOUSE; PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PROTEIN;

ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CIRCLING BEHAVIOR; CONTROLLED STUDY; EMBRYO; EXON; GENE DELETION; HUMAN; MALE; MALE STERILITY; MOLECULAR CLONING; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; VITAMIN D RESISTANT RICKETS; X CHROMOSOME LINKAGE; AMINO ACID SEQUENCE; ANIMAL; C57BL MOUSE; DISEASE MODEL; GENETICS; HYPOPHOSPHATEMIA; MOLECULAR GENETICS; X CHROMOSOME;

ANIMALIA;

AMINO ACID SEQUENCE; ANIMALS; DISEASE MODELS, ANIMAL; GENE DELETION; HUMANS; HYPOPHOSPHATEMIA, FAMILIAL; MALE; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; PHEX PHOSPHATE REGULATING NEUTRAL ENDOPEPTIDASE; PROTEINS; X CHROMOSOME;

EID: 0030615069     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.2.165     Document Type: Article

References (34)

1. The HYP Consortium (1995) A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. Nature Genet., 11, 130-136.
2. D'Adamio, L., Shipp, M.A., Masteller, E.L. and Reinherz, E.L. (1989) 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.
3. Schmidt, M., Kroger, B., Jacob, E., Seulberger, H., Subkowski, T., Otter, R., Meyer, T., Schmalzing, G. and Hillen, H. (1994) Molecular characterization of human and bovine endothelin converting enzyme (ECE-1). FEBS Lett., 356, 238-243.
4. Xu, D., Emoto, N., Giaid, A., Slaughter, C., Kaw, S., de Wit, D. and Yanagisawa, M. (1994) ECE-1: a membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1. Cell, 78, 473-485.
5. Emoto, N. and Yanagisawa, M. (1995) Endothelin-converting enzyme-2 is a membrane-bound, phosphoramidon-sensitive metalloprotease with acidic pH optimum. J. Biol. Chem., 270, 15262-15268.
6. Lee, S., Zambas, E.D., Marsh, W.L. and Redman, C.M. (1991) Molecular cloning and primary structure of Kell blood group protein. Proc. Natl Acad. Sci. USA, 88, 6353-6357.
7. Eicher, E.M., Southard, J.L., Scriver, C.R. and Glorieux, G.H. (1976) Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. Proc. Natl Acad. Sci. USA, 73, 4667-4671.
8. Lyon, M.F., Scriver, C.R., Baker, L.R.I., Tenenhouse, H.S., Kronick, J. and Mandla, S. (1986) The Gy mutation: another cause of X-linked hypophosphatemia in mouse. Proc. Natl Acad. Sci. USA, 83, 4899-4903.
9. Boneh, A., Reade, T.M., Scriver, R. and Rishikof, E. (1987) Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse. Am. J. Med. Genet., 27, 997-1003.
10. Davidai, G.A., Nesbitt, T. and Drezner, M.K. (1991) Variable phosphate-mediated regulation of vitamin D metabolism in the murine hypophosphatemic rachitic/osteomalacic disorders. Endocrinology, 128, 1270-1276.
11. Lobaugh, B. and Drezner, M.K. (1983) Abnormal regulation of renal 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the X-linked hypophosphalemic mouse. J Clin. Invest., 71, 400-403.
12. Tenenhouse, H.S. (1984) Investigation of the mechanism for abnormal renal 25-hydroxyvitamin D3-1-hydroxylase activity in the X-linked Hyp mouse. Endocrinology, 115, 634-639.
13. Nesbitt, T., Drezner, M.K. and Lobaugh, B. (1986) Abnormal parathyroid hormone stimulation of 25-hydroxyvitamin D-1 alpha-hydroxylase activity in the hypophosphatemic mouse. Evidence for a generalized defect of vitamin D metabolism. J. Clin. Invest., 77, 181-187.
14. Meyer, R.A., Meyer, M.H. and Morgan, P.L. (1996) 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.
15. Werner, A., Moore, M.L., Mantei, N., Biber, J., Semenza, G. and Murer, H. (1991) Cloning and expression of cDNA for a Na/Pi cotransport system of kidney cortex. Proc. Natl Acad. Sci. USA, 88, 9608-9612.
16. Magagnin, S., Werner, A., Markovich, D., Sorribas, V., Stange, G., Biber, J. and Murer, H. (1993) Expression cloning of human and rat renal cortex Na/Pi cotransport. Proc. Natl Acad. Sci. USA, 90, 5979-5983.
17. Tenenhouse, H.S., Werner, A., Biber, J., Ma, S., Martel, J., Roy, S. and Murer, H. (1994) Renal Na(+)-phosphate cotransport in murine X-linked hypophosphatemic rickets. Molecular characterization. J Clin. Invest., 93, 671-676.
18. + phosphate cotransporter mRNA and protein: effect of the Gy mutation and low phosphate diet. Pflügers Arch., 431, 936-941.
19. Collins, J.F. and Ghishan, F.K. (1996) The molecular defect in the renal sodium phosphate transporter expression pathway of gyro (g gamma) mice is distinct from that of hypophosphatemic (h gamma p) mice. FASEB J., 10, 751-759.
20. Meyer, R.A., Jr, Meyer, M.H., Gray, R.W. and Bruns, M.E. (1995) Femoral abnormalities and vitamin D metabolism in X-linked hypophosphatemic (Hyp and Gy) mice. J. Orthopaed. Res., 13, 30-40.
21. Du, L., Desbarats, M., Viel, J., Glorieux, F.H., Cawthorn, C. and Ecarot, B. (1996) cDNA cloning of the murine pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone. Genomics, 36, 22-28.
22. Kozak, M. (1987) An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res., 15, 8125-8148.
23. Kozak, M. (1991) An analysis of vertebrate mRNA sequences: intimations of translational control. J. Cell Biol., 115, 887-903.
24. Hooper, N.M. (1994) Families of zinc metalloproteases. FEBS Lett., 354, 1-6.
25. Rawlings, N.D. and Barren, A.J. (1995) Evolutionary families of metallopeptidases. Methods Enzymol., 248, 183-228.
26. Bode, W., Gomis Ruth, F.X. and Stockler, W. (1993) Astacins, serralysins, snake venom and matrix metalloproteinases exhibit identical zinc-binding environments (HEXXHXXGXXH and Met-turn) and topologies and should be grouped into a common family, the 'metzincins'. FEBS Lett., 331, 134-140.
27. Le Moual, H., Devault, A., Roques, B.P., Crine, P. and Boileau, G. (1991) Identification of glutamic acid 646 as a zinc-coordinating residue in endopeptidase-24.11. J. Biol. Chem., 266, 15670-15674.
28. Le Moual, H., Dion, N., Roques, B.P., Crine, P. and Boileau, G. (1994) Asp650 is crucial for catalytic activity of neutral endopeptidase 24-11. Eur. J. Biochem., 221, 475-480.
29. Dion, N., Le Moual, H.,Crine, P. and Boileau, G. (1993) Kinetic evidence that His-711 of neutral endopeptidase 24.11 is involved in stabilization of the transition state. FEBS Lett., 318, 301-304.
30. Chen, C.Y., Salles, G., Seldin, M.F., Kister, A.E., Reinherz, E.L. and Shipp, M.A. (1992) Murine common acute lymphoblastic leukemia antigen (CD10 neutral endopeptidase 24.11). Molecular characterization, chromosomal localization, and modeling of the active site. J. Immunol., 148, 2817-2825.
31. Shimada, K., Takahashi, M., Turner, A.J. and Tanzawa, K. (1996) Rat endothelin converting enzyme 1 forms a dimer through Cys(412) with a similar catalytic mechanism and a distinct substrate binding mechanism compared with neutral endopeptidase 24.11. Biochem. J., 315, 863-867.
32. del Castillo, I., Villamar, M., Sarduy, M., Romero, L., Herraiz, C., Hernández, F.J., Rodríguez, M., Borrás, I., Montero, A., Bellón, J., Tapia, M.C. and Moreno, F. (1996) A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. Hum. Mol. Genet., 5, 1383-1387.
33. Pierce, J.C. and Sternberg, N.L. (1992) Using bacteriophage Pl system to clone high molecular weight genomic DNA. Methods Enzymol., 216, 549-574.
34. Ioannou, P.A., Amemiya, C.T., Games, J., Kroisel, P.M., Shizuya, H., Chen, C., Batzer, M.A. and de Jong, P.J. (1994) A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nature Genet., 6, 84-89.