Mutations in G proteins and G protein-coupled receptors in endocrine disease

Journal of Clinical Endocrinology and Metabolism

Volumn 81, Issue 7, 1996, Pages 2434-2442

  Spiegel, Allen M ^a  

^a NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN;

ENDOCRINE DISEASE; GENE MUTATION; GENE THERAPY; GENETIC DISORDER; HUMAN; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; TARGET CELL;

ENDOCRINE SYSTEM DISEASES; GTP-BINDING PROTEINS; HUMANS; MUTATION; RECEPTORS, CELL SURFACE; SIGNAL TRANSDUCTION;

EID: 0029941917     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.7.2434     Document Type: Review

References (71)

1. Iismaa TP, Biden TJ, Shine J. 1995 G Protein-coupled receptors. Austin: Landes.
2. Spiegel AM, Jones TLZ, Simonds WF, Weinstein LS. 1994 G Proteins Austin: Landes.
3. Strader CD, Fong TM, Tota MR, Underwood D. 1994 Structure and function of G protein-coupled receptors. Annu Rev Biochem. 63:101-132.
4. Neer EJ. 1995 Heterotrimeric G proteins: organizers of transmembrane signals. Cell. 80:249-257.
5. Baldwin JM. 1994 Structure and function of receptors coupled to G proteins. Curr Opin Cell Biol. 6:180-190.
6. Bond RA, Leff P, Johnson TD, et al. 1995 Physiological effects of inverse agonists in transgenic mice with myocardial overexpression of the beta 2-adrenoceptor. Nature. 374:272-276.
7. Siffert W, Rosskopf D, Moritz A, el al. 1995 Enhanced G protein activation in immortalized lymphoblasts from patients with essential hypertension. J Clin Invest. 96:759-766.
8. Feldman RD, Tan CM, Chorazyczewski J. 1995 G protein alterations in hypertension and aging. Hypertension. 26:725-732.
9. Sung C-H, Davenport CM, Nathans J. 1993 Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa: clustering of functional classes along the polypeptide chain. J Biol Chem. 268:26645-26649.
10. Shenker A. 1995 G protein-coupled receptor structure and function: the impact of disease-causing mutations. Bailliere Clin Endocrinol Metab. 9:427-451.
11. Spiegel AM. 1995 Defects in G protein-coupled signal transduction in human disease. Annu Rev Physiol. 58:143-170.
12. Tsigos C, Arai K, Hung W, Chrousos GP. 1993 Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest. 92:2458-2461.
13. Weber A, Toppari J, Harvey RD, et al. 1995 Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. J Clin Endocrinol Metab. 80:65-71.
14. Mountjoy KG, Robbins LS, Mortrud MT, Cone RD. 1992 The cloning of a family of genes that encode the melanocortin receptors. Science. 257:1248-1251.
15. Tsigos C, Arai K, Latronico AC, DiGeorge AM, Rapaport R, Chrousos GP. 1995 A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome. J Clin Endocrinol Metab. 80:2186-2189.
16. Stein SA, Oates EL, Hall CR, et al. 1994 Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse. Mol Endocrinol. 8:129-138.
17. Sunthornthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S. 1995 Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med. 332:155-160.
18. Godfrey P, Rahal JO, Beamer WG, Copeland NG, Jenkins NA, Mayo KE. 1993 GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function. Nature Genet. 4:227-232.
19. Wajnrajch MP, Gertner JM, Harbison MD, Chua Jr SC, Leibel RL. 1996 Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little mouse. Nature Genet. 12:88-90.
20. Aittomäki K, Lucena JLD, Pakarinen P, el al. 1995 Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 82:959-968.
21. Kremer H, Kraaij R, Toledo SPA, et al. 1995 Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nature Genet. 9:160-164.
22. Fujiwara TM, Morgan K, Bichet DG. 1995 Molecular biology of diabetes insipidus. Annu Rev Med. 46:331-343.
23. Moses AM, Sangani G, Miller JL. 1995 Proposed cause of marked vasopressin resistance in a female with an X-linked recessive V2 receptor abnormality. J Clin Endocrinol Metab. 80:1184-1186.
24. 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 75:1297-1303.
25. Trump D, Whyte MP, Wooding C, et al. 1995 Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH. Hum Genet. 96:183-187.
26. Heath H, Jackson CE, Otterud B, Leppert MF. 1993 Genetic linkage analysis in familial benign (hypocalciuric) hyperealeemia: evidence for locus heterogeneity. Am J Hum Genet. 53:193-200.
27. 2+-sensing receptor from bovine parathyroid. Nature. 366:575-580.
28. Brown EM, Pollak M, Seidman CE, et al. 1995 Calcium-ion-scnsing cell-surface receptors, N Engl J Med. 333:234-240.
29. Pollak MR, Wu Chou Y-H, Marx SJ, et al. 1994 Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism: effects of mutant gene dosage on phenorype. J Clin Invest. 93:1108-1112.
30. Janicic N, Pausova Z, Cole DC, Hendy GN. 1995 Insertion of an Alu sequence in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am J Hum Genet. 56:880-886.
31. Ho C, Conner DA, Pollak MR, et al. 1995 A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nature Genet. 11:389-394.
32. Pearce SHS, Trump D, Wooding C, et al. 1995 Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest. 96:2683-2692.
33. 2+-sensing receptor gene. J Clin Endocrinol Metab. 80:2594-2598.
34. 2+-sensing receptor gene in human parathyroid tumors. J Clin Endocrinol Metab. 80:3107-3110.
35. Lefkowitz RJ, Cotecchia S, Samama P, Costa T. 1994 Constitutive activity of receptors coupled to guanine nucleotide regulatory proteins. Trends Pharmacol Sci. 14:303-307.
36. Shenker A, Laue L, Kosugi S, Merendino Jr JJ, Minegishi T, Cutler Jr GB. 1993 A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature. 365:652-654.
37. Parma J, Duprez L, Van Sande J, et al. 1993 Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature. 365:649-651.
38. Yano K, Hidaka A, Saji M, et al. 1994 A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases. J Clin Endocrinol Metab. 79:1818-1823.
39. Laue L, Chan WY, Hsueh AJW, et al. 1995 Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc Natl Acad Sci USA. 92:1906-1910.
40. Duprez L, Parma J, Van Sande J, et al. 1994 Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nature Genet. 7:396-401.
41. Kopp P, Van Sande J, Parma J, et al. 1995 Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receplor gene. N Engl J Med. 3.32:150-154.
42. Van Sande J, Parma J, Tonacchera M, Swillens S, Dumont J, Vassart G. 1995 Somatic and germline mutations of the TSH receptor gene in thyroid diseases. J Clin Endocrinol Metab. 80:2577-2585.
43. Russo D, Arturi F, Schlumberger M, et al. 1995 Activating mutations of the TSH receptor in differentiated thyroid carcinomas. Oncogene 11:1907-1911.
44. Pollak MR, Brown EM, Estep HL, et al. 1994 Autosomal dominant hypocalcemia caused by a calcium-sensing receptor gene mutation. Nature Genet. 8:303-307.
45. Perry YM, Finegold DN, Armitage MM, Ferrell RE. 1994 A missense mutation in the Ca-sensing receptor causes familial autosomal dominant hypoparathyroidism [Abstract]. Am J Hum Genet. 55:A17.
46. Schipani E, Kruse K, Juppner H. 1995 A constitutively activa mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science. 268:98-100.
47. Schipani E, Weinstein LS, Bergwitz C, et al. 1995 Pseudohypoparathyroidism type lb 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.
48. Suarez F, Lebrun JJ, Lecossier D, Escoubet B, Coureau C, Silvc C. 1995 Expression and modulation of the parathyroid hormone (PTH)/PTH-related peptide receptor messenger ribonucleic acid in skin fibroblasts from patients with type lb pseudohypoparathyroidism. J Clin Endocrinol Metab. 80:965-970.
49. sα in patients with gain and loss of endocrine function. Nature. 371:164-168.
50. Lyons J, Landis CA, Harsh G, et al. 1990 Two G protein oncogenes in human endocrine tumors. Science. 249:655-659.
51. Spada A, Vallar L, Faglia G. 1992 G protein oncogenes in pituitary tumors. Trends Endocrinol Metab. 3:355-360.
52. Russo D, Arturi F, Wicker R, et al. 1995 Genetic alterations in thyroid hyperfunctioning adenomas. J Clin Endocrinol Metab. 80:1347-1351.
53. Reincke M, Karl M, Travis W, Chrousos GP. 1993 No evidence for oncogenic mutations in guanine nucleotide-binding proteins of human adrenocortical neoplasms. J Clin Endocrinol Metab. 77:1419-1422.
54. Dumont JE, Jauniaux J-C, Roger PP. 1989 The cyclic AMP-mediated stimulation of cell proliferation. Trends Biochem Sci. 14:67-71.
55. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM. 1991 Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med. 325:1688-1695.
56. sα mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. J Clin Endocrinol Metab. 79:750-755.
57. Shenker A, Weinstein LS, Moran A, et al. 1993 Severe endocrine and non-endocrine manifestations of the McCune-Albright syndrome associated with activating mutations of the stimulatory C protein, Gs. J Pediatr. 123:509-518
58. Dhanasekaran N, Heasley LE, Johnson GL. 1995 G Protein-coupled receptor systems involved in cell growth and oncogenesis. Endocr Rev. 16:259-270.
59. Latronico AC, Reincke M, Mendonca BB, et al. 1995 No evidence for oncogenic mutations in the adrenocorticotropin receptor gene in human adrenocortical neoplasma. J Clin Endocrinol Metab. 80:875-877.
60. Dong Q, Brucker-Davis F, Weintraub BD, et al. 1996 Screening of candidate oncogenes in human thyrotroph tumors: absence of activating mutations of the Gαq, Gα11, Gαs, or thyrotropin-releasing hormone receptor genes. J Clin Endocrinol Metab. 81:1134-1140.
61. Friedman E, Adams EF, Hoog A, et al. 1994 Normal structural dopamine type 2 receptor gene in prolactin-secreting and other pituitary tumors. J Clin Endocrinol Metab. 78:568-574.
62. Puffenberger EG, Hosoda K, Washington SS, et al. 1994 A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell. 79:1257-1266.
63. Robbins LS, Nadeau JH, Johnson KR, et al. 1993 Pigmentation phenotypes of variant extension locus alleles result from point mutations which alter MSH receptor function. Cell. 72:827-834.
64. Hosoda K, Hammer RE, Richardson JA, et al. 1994 Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell. 79:1267-1276.
65. Susulic VS, Frederich RC, Lawitts J, et al. 1995 Targeted disruption of the beta 3-adrenergic receptor gene. J Biol Chem. 270:29483-29492.
66. Rudolph U, Finegold MJ, Rich SS, et al. 1995 Ulcerative colitis and adenocarcinoma of the colon in Galpha-i2-deficient mice. Nature Genet. 10:143-150.
67. Hager J, Hansen L, Vaisse C, et al. 1995 A missense mutation in the glucagon receptor gene is associated with non-insulin-dependent diabetes mellitus. Nature Genet. 9:299-304.
68. Walston J, Silver K, Bogardus C, et al. 1995 Time of onset of non-insulin-dependent diabetes mellitus and genetic variation in the beta 3-adrenergic-receptor gene. N Engl J Med. 333:343-347.
69. Koch WJ, Rockman HA, Samama P, et al. 1995 Cardiac function in mice overexpressing the beta-adrenergic receptor kinase or a beta ARK inhibitor. Science. 268:1350-1353.
70. Adams EF, Lei T, Buchfelder M, Petersen B, Fahlbusch R. 1995 Biochemical characteristics of human pituitary somatotropinomas with and without gsp mutations: in vitro cell culture studies. J Clin Endocrinol Metab. 80:2077-2081.
71. Feuillan PP, Jones J, Ross JL. 1995 Growth hormone hypersecretion in a girl with McCune-Albright syndrome: comparison with controls and response to a dose of long-acting somatostatin analog. J Clin Endocrinol Metab. 80:1357-1360.