Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia

Molecular Endocrinology

Volumn 11, Issue 7, 1997, Pages 851-858

  Schipani, E ^a   Jensen, G S ^a   Pincus, J ^a   Nissenson, R A ^b   Gardella, T J ^a   Juppner H ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITONIN RECEPTOR; CORTICOTROPIN RELEASING FACTOR RECEPTOR; CYCLIC AMP; GLUCAGON LIKE PEPTIDE 1; GONADORELIN RECEPTOR; PARATHYROID HORMONE; PARATHYROID HORMONE RECEPTOR;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CHONDRODYSPLASIA; GENE MUTATION; HUMAN; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

AMINO ACID SEQUENCE; ANIMALS; COS CELLS; CYCLIC AMP; DNA; DOSE-RESPONSE RELATIONSHIP, DRUG; GENE EXPRESSION REGULATION; HUMANS; IMMUNE SERA; MOLECULAR SEQUENCE DATA; OSTEOCHONDRODYSPLASIAS; POINT MUTATION; RABBITS; RATS; RECEPTORS, PARATHYROID HORMONE; RECOMBINANT PROTEINS; SIGNAL TRANSDUCTION;

DIDELPHIDAE; MAMMALIA;

EID: 0030991648     PISSN: 08888809     EISSN: None     Source Type: Journal    
DOI: 10.1210/me.11.7.851     Document Type: Article

References (37)

1. Jüppner H 1994 Molecular cloning and characterization of a parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptor: a member of an ancient family of G protein-coupled receptors. Curr Opin Nephrol Hypertens 3:371-378
2. Usdin TB, Gruber C, Bonner TI 1995 Identification and functional expression of a receptor selectively recognizing parathyroid hormone, the PTH2 receptor. J Biol Chem 270:15455-15458
3. Lee C, Gardella TJ, Abou-Samra AB, Nussbaum SR, Segre GV, Potts Jr JT, Kronenberg HM, Jüppner H 1994 Role of the extracellular regions of the parathyroid hormone (PTH)/PTH-related peptide receptor in hormone binding. Endocrinology 135:1488-1495
4. Schipani E, Kruse K, Jüppner H 1995 A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 268:98-100
5. Schipani E, Langman CB, Parfitt AM, Jensen GS, Kikuchi S, Kooh SW, Cole WG, Jüppner H 1996 Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N Engl J Med 335:708-714
6. Gardella TJ, Luck MD, Jensen GS, Schipani E, Potts Jr JT, Jüppner H 1996 Inverse agonism of amino-terminally truncated parathyroid hormone (PTH) and PTH-related peptide (PTHrP) analogs revealed with constitutively active mutant PTH/PTHrP receptors. Endocrinology 137:3936-3941
7. 2-adrenergic receptor. Extending the ternary complex model. J Biol Chem 268:4625-4636
8. Samama P, Pei G, Costa T, Cotecchia S, Lefkowitz R 1994 Negative antagonists promote an inactive conformation of the β-adrenergic receptor receptor. Mol Pharmacol 45:390-394
9. Yasuda Y, Arakawa K, Minagawa M, Minamitani K, Niimi HS 1996 Jansen-type metaphyseal chondrodysplasia: examination of the PTH/PTHrP receptor by the RT-PCR. J Bone Miner Res [Suppl 1] 11:S647
10. Shenker A 1995 G Protein-coupled receptor structure and function: the impact of disease-causing mutations. Baillieres Clin Endocrinol Metab 9:427-51
11. Jobert AS, Fernandes I, Turner G, Coureau C, Prie D, Nissenson RA, Friedlander G, Silve C 1996 Expression of alternatively spliced isoforms of the parathyroid hormone (PTH)/PTH-related peptide receptor messenger RNA in human kidney and bone cells. Mol Endocrinol 10:1066-1076
12. Turner PR, Bambino T, Nissenson RA 1996 Mutations of neighboring polar residues on the second transmembrane helix disrupt signaling by the parathyroid hormone receptor. Mol Endocrinol 10:132-139
13. Segre G, Potts Jr JT 1995 Differential diagnosis of hypercalcemia. In: de Groot L (ed) Endocrinology, ed 3. Saunders, Philadelphia, vol 2:1075-1093
14. Parfitt AM, Schipani E, Rao DS, Kupin W, Han Z-H, Jüppner H 1996 Hypercalcemia due to constitutive activity of the PTH/PTHrP receptor. J Clin Endocrinol Metab 81:3584-3588
15. 1β-adrenergic receptor by all amino acid substitutions at a single site. Evidence for a region which constrains receptor activation. J Biol Chem 267:1430-1433
16. 2-adrenergic receptor. J Biol Chem 268:16483-16487
17. Latronico AC, Anasti J, Arnhold IJP, Mendonca BB, Domenice S, Albano MC, Zachman K, Wajchenberg BL, Tsigos C 1995 A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. J Clin Endocrinol Metab 80:2490-2494
18. Parma J, Duprez L, Van Sande J, Cochaux P, Gervy C, Mockel J, Dumont J, Vassart G 1993 Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 365:649-651
19. Anasti JN, Froehlinch J, Nelson LM, Flack MR, Mutations of the third cytosolic loop of the human follicle-stimulating hormone receptor (h FSH-R) causes constitutive activation. 50th Annual Meeting of the American Fertility Society, 1994, San Antonio TX, pp 0-145
20. Kosugi S, Mori T, Shenker A 1996 The role of Asp 578 in maintaining the inactive conformation of the human lutropin/choriogonadotropin receptor. J Biol Chem 13:31813-31817
21. Lefkowitz R, Cotecchia S, Samama P, Costa T 1993 Constitutive activity of receptors coupled to guanine nucleotide regulatory proteins. Trends Pharmacol Sci 14:303-307
22. Pei G, Samama P, Lohse M, Wang M, Codina J, Lefkowitz RJ 1994 A constitutively active mutant 2-adrenergic receptor is constitutively desensitized and phosphorylated. Proc Natl Acad Sci USA 91:2699-2702
23. Cohen DP, Thaw CN, Varma A, Gershengorn MC, Nussenzveig DR 1997 Human calcitonin receptors exhibit agonis-independent (constitutive) signalling activity. Endocrinology 138:1400-1405
24. Heller RS, Kieffer TJ, Habener JF 1996 Point mutations in the first and third intracellular loops of the glucagon-like peptide-1 receptor alter intracellular signaling. Biochem Biophys Res Commun 223:624-632
25. Kudo M, Osaga Y, Kobilka BK, Conti M, Hsueh AJW 1996 Transmembrane regions V and VI of the human luteinizing hormone receptor are required for constitutive activation by a mutation in the third intracellular loop. J Biol Chem 271:22470-22478
26. Schipani E, Karga H, Karaplis AC, Potts Jr JT, Kronenberg HM, Segre GV, Abou-Samra AB, Jüppner H 1993 Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/ PTH-related peptide receptor. Endocrinology 132: 2157-2165
27. Abou-Samra AB, Jüppner H, Force T, Freeman MW, Kong XF, Schipani E, Urena P, Richards J, Bonventre JV, Potts Jr JT, Kronenberg HM, Segre GV 1992 Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells: a single receptor stimulates intracellular accumulation of both cAMP and inositol triphosphates and increases intracellular free calcium. Proc Natl Acad Sci USA 89:2732-2736
28. Jüppner H, Abou-Samra AB, Freeman MW, Kong XF, Schipani E, Richards J, Kolakowski Jr LF, Hock J, Potts Jr JT, Kronenberg HM, Segre GV 1991 A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide. Science 254:1024-1026
29. Ishihara T, Nakamura S, Kaziro Y, Takahashi T, Takahashi K, Nagata S 1991 Molecular cloning and expression of a cDNA encoding the secretin receptor. EMBO J 10:1635-1641
30. Lin HY, Harris TL, Flannery MS, Aruffo A, Kaji EH, Gorn A, Kolakowski Jr LF, Lodish HF, Goldring SR 1991 Expression cloning of an adenylate cyclase-coupled calcitonin receptor. Science 254:1022-1024
31. Vita N, Laurent P, Lefort S, Chalon P, M Lelias J, Kaghad M, Fur GL, Caput D, Ferrara P 1993 Primary structure and functional expression of mouse pituitary and human brain corticotropin releasing factor receptors. FEBS Lett 335:1-5
32. Mayo KE 1992 Molecular cloning and expression of a pituitary-specific receptor for growth hormone-releasing hormone. Mol Endocrinol 6:1734-1744
33. Thorens B 1992 Expression cloning of the pancreatic cell receptor for the gluco-incretin hormone glucagon-like peptide 1. Proc Natl Acad Sci USA 89:8641-8645
34. Schipani E, Weinstein LS, Bergwitz C, Iida-Klein A, Kong XF, Stuhrmann M, Kruse K, Whyte MP, Murray T, Schmidtke J, van Dop C, Brickman AS, Crawford JD, Potts Jr JT, Kronenberg HM, Abou-Samra AB, Segre GV, Jüppner H 1995 Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. J Clin Endocrinol Metab 80:1611-1621
35. Sanger F, Nicklen S, Coulson AR 1977 DNA sequencing with chain-terminating inhibitors. Biochemistry 74: 5463-5467
36. Gardella TJ, Luck MD, Fan MH, Lee CW 1996 Transmembrane residues of the parathyroid hormone (PTH)/ PTH-related peptide receptor that specifically affect binding and signaling by agonist ligands. J Biol Chem 271:12820-12825
37. Iida-Klein A, Guo J, Xie LY, Jüppner H, Potts Jr JT, Kronenberg HM, Bringhurst FR, Abou-Samra AB, Segre GV 1995 Truncation of the carboxyl-terminal region of the parathyroid hormone (PTH)/PTH-related peptide receptor enhances PTH stimulation of adenylate cyclase but not phospholipase C. J Biol Chem 270:8458-8465