Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells

Journal of Clinical Investigation

Volumn 98, Issue 8, 1996, Pages 1860-1866

  Pearce, Simon H S ^a,b,c   Bai, Mei ^b   Quinn, Stephen J ^b   Kifor, Olga ^b   Brown, Edward M ^b   Thakker, Rajesh V ^a  

^a MRC CLINICAL SCIENCES CENTRE   (United Kingdom)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

G protein coupled receptor; hypercalcemia; hypocalcemia; neonatal hyperparathyroidism

Indexed keywords

CALCIUM ION; GADOLINIUM; GUANINE NUCLEOTIDE BINDING PROTEIN; MUTANT PROTEIN; RECEPTOR PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIUM CELL LEVEL; CALCIUM HOMEOSTASIS; CONTROLLED STUDY; EMBRYO; EXTRACELLULAR CALCIUM; FAMILIAL DISEASE; HUMAN; HUMAN CELL; HYPERCALCEMIA; HYPERPARATHYROIDISM; HYPOCALCEMIA; KIDNEY CELL; MISSENSE MUTATION; NEWBORN DISEASE; PRIORITY JOURNAL; PROTEIN DOMAIN; SITE DIRECTED MUTAGENESIS;

EID: 0029967961     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118987     Document Type: Article

References (37)

1. 2+ and other ions as extracellular (first) messengers. Physiol Rev. 71:371-411.
2. 2+-sensing receptor from bovine parathyroid. Nature (Lond.). 366:575-580.
3. Garrett, J.E., I.V. Capuano, L.G. Hammerland, B.C.P. Hung, E.M. Brown, S.C. Hebert, E.F. Nemeth, and F. Fuller. 1995. Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs. J. Biol. Chem. 270:12919-12925.
4. Riccardi, D., J. Park, W.S. Lee, G. Gamba, E.M. Brown, and S.C. Hebert. 1995. Cloning and functional expression of a rat kidney extracellular calcium-sensing receptor. Proc. Natl. Acad. Sci. USA. 92:131-135.
5. Ruat, M., M.E. Molliver, A.M. Snowman, and S.H. Snyder. 1995. Calcium sensing receptor: Molecular cloning in rat and localization to nerve terminals. Proc. Natl. Acad. Sci. USA. 92:3161-3165.
6. Brown, E.M., G.E.H. Fuleihan, C.J. Chen, and O. Kifor. 1990. A comparison of the effect of divalent and trivalent cations on parathyroid hormone release, 3′, 5′-cyclic adenosine monophosphate accumulation, and the levels of inositol phosphates in bovine parathyroid cells. Endocrinology. 127:1064-1070.
7. Brown, E.M., R. Butters, C. Katz, and O. Kifor. 1991. Neomycin mimics the effects of high extracellular calcium concentrations on parathyroid function in dispersed bovine parathyroid cells. Endocrinology. 128:3047-3054.
8. 2+ stimulate accumulation of inositol phosphates in bovine parathyroid cells. FEBS Lett. 218:113-118.
9. LeBoff, M.S., D. Shoback, E.M. Brown, J. Thatcher, R. Leombruno, D. Beaudoin, M. Henry, R. Wilson, J. Pallotta, and S. Marynick. 1985. Regulation of parathyroid hormone release and cytosolic calcium by extracellular calcium in dispersed and cultured bovine and pathological human parathyroid cells. J. Clin. Invest. 75:49-57.
10. 2+ and the regulation of secretion in parathyroid cells. FEBS Lett. 210:15-19.
11. Chen, C.J., C.S. Anast, J.T. Posillico, and E.M. Brown. 1987. Effect of extracellular calcium and magnesium on cytosolic calcium in fura-2 loaded bovine parathyroid cells. J. Bone. Miner. Res. 2:319-327.
12. Houamed, K.H., J.L. Kuijper, T.L. Gilbert, B.A. Haldeman, P.J. O'Hara, E.R. Mulvihill, W. Almers, and F.S. Hagen. 1991. Cloning, expression and gene structure of a G-protein coupled glutamate receptor from rat brain. Science (Wash. DC). 252:1318-1321.
13. Bichet, D.G., M.F. Arthus, M. Lonergan, G.N. Hendy, A.J. Paradis, T.M. Fujiwara, K. Morgan, M.C. Gregory, W. Rosenthal, A. Didwania, A. Antaramian, and M. Birnbaumer. 1993. X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. J. Clin. Invest. 92:1262-1268.
14. Tsigos, C., K. Arai, W. Hung, and G.P. Chrousos. 1993. Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotrophin receptor gene. J. Clin. Invest. 92:2458-2461.
15. Parma, J., L. Duprez, J. Van Sande, P. Cochaux, C. Gervy, J. Mockel, J. Dumont, and G. Vassart. 1993. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature (Lond.). 365:649-651.
16. Shenker, A., L. Laue, S. Kosugi, J.J. Merendino, T. Miregishi, and G.B. Cutler. 1993. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature (Lond.). 365:652-654.
17. 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 75:1297-1303.
18. 2+-sensing receptor gene that cause familial hypocalciuric hypercalcemia. Am. J. Hum. Genet. 56:1075-1079.
19. Pearce, S.H.S., D. Trump, C. Wooding, G.M. Besser, S.L. Chew, D.B. Grant, D.A. Heath, I.A. Hughes, C.R. Paterson, M.P. Whyte, and R.V. Thakker. 1995. Calcium-sensing receptor mutations in familial benign hypocalcemia and neonatal hyperparathyroidism. J. Clin. Invest. 96:2683-2692.
20. Heath, H., III, S. Odelberg, C.E. Jackson, B.T. Teh, N. Hayward, C. Larsson, N.R.M. Buist, K.J. Krapcho, B.C. Hung, I.V. Capuano, J.E. Garrett, and M.F. Leppert. 1996. Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. J. Clin. Endocrinol. Metab. 81:1312-1317.
21. 2+-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am. J. Hum. Genet. 56:880-886.
22. 2+-sensing receptor gene. J. Clin. Endocrinol. Metab. 80:2594-2598.
23. 2+-sensing receptor mutation. Nat. Genet. 8:303-307.
24. Perry, Y.M., D.N. Finegold, M.M. Armitage, and R.E. Ferrell. 1994. A missense mutation in the Ca-sensing receptor causes familial autosomal dominant hypoparathyroidism. Am. J. Hum. Genet. 55 (Suppl):A17.
25. Pearce, S.H.S., C. Williamson, O. Kifor, M. Bai, M.G. Coulthard, M. Davies, D. McCredie, H. Powell, N. Lewis-Barned, P. Kendall-Taylor et al. 1996. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N. Engl. J. Med. In press.
26. Pearce, S.H.S., C. Wooding, M. Davies, S.E. Tollefsen, M.P. Whyte, and R.V. Thakker. 1996. Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis. Clin. Endocrinol. In press.
27. Kunkel, T.A. 1985. Rapid and efficient site-specific mutagenesis without phenotype selection. Proc. Natl. Acad. Sci. USA. 82:488-492.
28. Hansen, C.A., J.R. Monck, and J.R. Williamson. 1990. Measurement of intracellular free calcium to investigate receptor-mediated calcium signalling. Methods Enzymol. 191:691-706.
29. Quinn, S.J., G.H. Williams, and D.L. Tillotson. 1988. Calcium oscillations in single adrenal glomerulosa cells stimulated by angiotensin II. Proc. Natl. Acad. Sci. USA. 85:5754-5758.
30. Garrett, J.E., H. Tamir, O. Kifor, R.T. Simin, K.V. Rogers, A. Mithal, R.F. Gagel, and E.M. Brown. 1995. Calcitonin-secreting cells of the thyroid express an extracellular calcium receptor gene. Endocrinology. 136:5202-5211.
31. Duncan, D.B. 1955. Multiple range and multiple F tests. Biometrics. 11:1-42.
32. Baldwin, J.M. 1994. Structure and function of receptors coupled to G proteins. Curr. Opin. Cell. Biol. 6:180-190.
33. Birnbaumer, M. 1995. Mutations and diseases of G protein coupled receptors. J. Recept. Signal Transduct. Res. 15:131-160.
34. Gomeza, J., C. Joly, R. Kuhn, T. Knöpfel, J. Bockaert, and J.-P. Pin. 1996. The second intracellular loop of metabotropic glutamate receptor 1 cooperates with other intracellular domains to control coupling to G-proteins. J. Biol. Chem. 271:2199-2205.
35. 2+-sensing receptor: differential cooperative responses to calcium and magnesium. J. Biol. Chem. 271:5972-5975.
36. Hammerland, L.G., K.J. Krapcho, N. Alasti, R. Simin, J.E. Garrett, I.V. Capuano, B.C.P. Hung, and F.H. Fuller. 1995. Cation binding determinants of the calcium receptor revealed by functional analysis of chimeric receptors and a deletion mutant. J. Bone. Miner. Res. 10 (Suppl.):S156.
37. Ho, C., D.A. Conner, M.R. Pollak, D.J. Ladd, O. Kifor, H.B. Warren, E.M. Brown, J.G. Seidman, and C.E. Seidman. 1995. A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat. Genet. 11:389-394.