Naturally-occurring missense mutations in the human growth hormone-releasing hormone receptor alter ligand binding

Journal of Endocrinology

Volumn 186, Issue 3, 2005, Pages 515-521

  Alba, Maria ^a   Salvatori, Roberto ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYCLIC AMP; GROWTH HORMONE RELEASING FACTOR RECEPTOR; IODINE 125; LIGAND;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELL MEMBRANE; CHO CELL; GROWTH HORMONE DEFICIENCY; HUMAN; IMMUNOFLUORESCENCE; IMMUNOPRECIPITATION; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEGRADATION; RECEPTOR BINDING; SIGNAL TRANSDUCTION;

ANALYSIS OF VARIANCE; ANIMALS; CELL LINE; CHO CELLS; CRICETINAE; CYCLIC AMP; DWARFISM, PITUITARY; GROWTH HORMONE-RELEASING HORMONE; HUMANS; IMMUNOPRECIPITATION; LIGANDS; MODELS, ANIMAL; MUTATION, MISSENSE; PITUITARY GLAND; PROTEIN BINDING; RECEPTORS, NEUROPEPTIDE; RECEPTORS, PITUITARY HORMONE-REGULATING HORMONE; TRANSFECTION;

EID: 26044437133     PISSN: 00220795     EISSN: None     Source Type: Journal    
DOI: 10.1677/joe.1.06213     Document Type: Article

References (24)

1. Alba M, Hall CM, Andrew J, Whatmore AJ, Clayton PE, Price DA & Salvatori R 2004 Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor gene. Clinical Endocrinology 60 470-475.
2. Carakushansky M, Whatmore AJ, Clayton PE, Shalet SN, Gleeson HK, Price DA, Levine MA & Salvatori R 2003 A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency. European Journal of Endocrinology 148 25-30.
3. DeAlmeida VI & Mayo KE 1998 Identification of binding domains of the growth hormone-releasing hormone recpetor by analysis of mutant and chimeric receptor proteins. Molecular Endocrinology 12 750-765.
4. Eicher EM & Beamer WG 1976 Inherited ateliotic dwarfism in mice. Characteristics in the mutation, little, on chromosome 6. Journal of Heredity 67 87-91.
5. Gaylinn BD, Lyons CE, Zysk JR, Clarke IJ & Thorner MO 1994 Photoaffinity cross-linking to the pituitary receptor for growth hormone releasing-factor. Endocrinology 135 950-955.
6. Gaylinn BD, DeAlmeida VI, Lyons CE, Wu KC, Mayo KE & Thorner MO 1999 The mutant growth hormone releasing hormone (GHRH) receptor of the little mouse does not bind GHRH. Endocrinology 140 5066-5074.
7. 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 Genetics 4 227-232.
8. Horikawa R 2002 Isolated GH deficiency due to inactivating mutation of GHRH receptor Nippon Rinsho 60 297-305.
9. Horikawa R, Gaylinn BD, Lyons Jr CE & Thorner MO 2001 Molecular cloning of ovine and bovine growth hormone releasing hormone receptor: the ovine receptor is C-terminally truncated. Endocrinology 142 2660-2668.
10. Kunkel TA 1985 Rapid and efficient site-specific mutagenesis without phenotypic selection. PNAS 82 488-492.
11. Levine MA, Eil C, Downs Jr RW & Spiegel AM 1983 Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypoparathyroidism type I. A cause of impaired synthesis of 3′, 5′-cyclic AMP by intact and broken cells. Journal of Clinical Investigation 72 316-324.
12. Lin SC, Lin CR, Gukovsky I, Lusis AJ, Sawchenko PE & Rosenfeld MG 1993 Molecular basis of the little mouse phenotype and implications for cell type-specific growth. Nature 364 208-213
13. Milligan G 2004 G protein-coupled receptor dimerization: function and ligand pharmacology. Molecular Pharmacology 66 1-7.
14. Muller EE, Locatelli V & Cocchi D 1999 Neuroendocrine control of growth hormone secretion. Physiology Reviews 79 511-607.
15. Pombo CM, Zalvide J & Gaylinn B 2000 Growth hormone-releasing hormone stimulates mitogen activated protein kinase. Endocrinology 141 2113-2119.
16. Roelfsema F, Biermasz NR, Veldman RG, Veldhuis JD, Frolich M, Stokvis-Brantsma WH & Wit JM 2001 Growth hormone (GH) secretion in patients with an inactivating defect of the GH-releasing hormone (GHRH) receptor is pulsatile: evidence for a role for non-GHRH inputs into the generation of GH pulses. Journal of Clinical Endocrinology and Metabolism 86 2459-2464.
17. Salvatori R, Hayashida CY, Aguilar-Oliveira MH, Phillips JA III, Souza AH, Gondo RG, Toledo SPA, Conceicao MM, Prince M, Baumann G, Maheshwari H & Levine MA 1999 Familial Dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene. Journal of Clinical Endocrinology and Metabolism 84 917-923.
18. Salvatori R, Fan X, Phillips JA III, Espigares R, Martin de Lara I, Freeman K, Plotnick L, Al-Shawl A & Levine MA 2001a Three new mutations in the gene for growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type IB. Journal of Clinical Endocrinology and Metabolism 86 273-279.
19. Salvatori R, Fan X, Phillips JA III, Prince M & Levine MA 2001b Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene. Clinical Endocrinology 54 681-687.
20. Salvatori R, Fan X, Mullis PE, Haile A & Levine MA 2002a Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site. Molecular Endocrinology 16 450-458.
21. Salvatori R, Aguiar-Oliveira MH, Monte LVB, Hedges L, Santos NL, Pereira RMC & Phillips III JA 2002b Detection of a recurring mutation in the human growth hormone- releasing hormone receptor gene. Clinical Endocrinology 57 77-80.
22. Salvatori R, Fan X, Veldhuis J & Couch R 2002c Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor gene. European Journal of Endocrinology 147 591-597.
23. Tarasova NI, Stauber RD & Wank SA 2000 Characterization of receptor trafficking with green fluorescent protein. In Regulation of G protein-coupled receptor function and expression. pp 253-272. Ed JL Benovic. New York: John Wiley and Sons.
24. Wajnrajch MP, Gertner JM, Harbison MD, Chua SC Jr & Leibel RL 1996 Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nature Genetics 12 88-90.