Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature

Journal of Clinical Investigation

Volumn 116, Issue 3, 2006, Pages 760-768

  Pantel, Jacques ^a,b,d   Legendre, Marie ^a,b   Cabrol, Sylvie ^c,d,e   Hilal, Latifa ^f   Hajaji, Yassir ^f   Morisset, Séverine ^d,g   Nivot, Sylvie ^h   Vie Luton, Marie Pierre ^a,b   Grouselle, Dominique ^d,g   De Kerdanet, Marc ⁱ   Kadiri, Abdelkrim ^j   Epelbaum, Jacques ^d,g   Le Bouc, Yves ^c,d,e   Amselem, Serge ^a,b  

^a HENRI MONDOR HOSPITAL   (France)

^b FACULTÉ DE MÉDECINE   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d INSERM   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f IBN TOFAIL UNIVERSITY   (Morocco)

^g UNIVERSITÉ PARIS DESCARTES   (France)

^h CAEN UNIVERSITY HOSPITAL   (France)

ⁱ RENNES UNIVERSITY HOSPITAL   (France)

^j IBN SINA HOSPITAL   (Morocco)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CELL SURFACE RECEPTOR; GROWTH HORMONE SECRETAGOGUE RECEPTOR;

ADOLESCENT; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; EMBRYO; FAMILIAL DISEASE; FAMILY; GENE IDENTIFICATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BODY HEIGHT; CELL LINE; CHILD; FEMALE; GROWTH DISORDERS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PEPTIDE HORMONES; RECEPTORS, G-PROTEIN-COUPLED;

EID: 33644653308     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI25303     Document Type: Article

References (39)

1. Howard, A.D., et al. 1996. A receptor in pituitary and hypothalamus that functions in growth hormone release. Science. 273:974-977.
2. Smith, R.G., et al. 1997. Peptidomimetic regulation of growth hormone secretion. Endocr. Rev. 18:621-645.
3. Kojima, M., et al. 1999. Ghrelin is a growth-hormone-releasing acylated peptide from stomach. Nature. 402:656-660.
4. Cummings, D.E., et al. 2001. A preprandial rise in plasma ghrelin levels suggests a role in meal initiation in humans. Diabetes. 50:1714-1719.
5. Takaya, K., et al. 2000. Ghrelin strongly stimulates growth hormone release in humans. J. Clin. Endocrinol. Metab. 85:4908-4911.
6. Arvat, E., et al. 2001. Endocrine activities of ghrelin, a natural growth hormone secretagogue (GHS), in humans: comparison and interactions with hexarelin, a nonnatural peptidyl GHS, and GH-releasing hormone. J. Clin. Endocrinol. Metab. 86:1169-1174.
7. Tschop, M., Smiley, D.L., and Heiman, M.L. 2000. Ghrelin induces adiposity in rodents. Nature. 407:908-913.
8. Wren, A.M., et al. 2000. The novel hypothalamic peptide ghrelin stimulates food intake and growth hormone secretion. Endocrinology. 141:4325-4328.
9. Nakazato, M., et al. 2001. A role for ghrelin in the central regulation of feeding. Nature. 409:194-198.
10. Wren, A.M., et al. 2001. Ghrelin enhances appetite and increases food intake in humans. J. Clin. Endocrinol. Metab. 86:5992-5995.
11. Shuto, Y., et al. 2002. Hypothalamic growth hormone secretagogue receptor regulates growth hormone secretion, feeding, and adiposity. J. Clin. Invest. 109:1429-1436. doi:10.1172/JCI200213300.
12. Sun, Y., Ahmed, S., and Smith, R.G. 2003. Deletion of ghrelin impairs neither growth nor appetite. Mol. Cell. Biol. 23:7973-7981.
13. Sun, Y., Wang, P., Zheng, H., and Smith, R.G. 2004. Ghrelin stimulation of growth hormone release and appetite is mediated through the growth hormone secretagogue receptor. Proc. Natl. Acad. Sci. U. S. A.101:4679-4684.
14. Wortley, K.E., et al. 2004. Genetic deletion of ghrelin does not decrease food intake but influences metabolic fuel preference. Proc. Natl. Acad. Sci. U. S. A. 101:8227-8232.
15. Holst, B., Cygankiewicz, A., Jensen, T.H., Ankersen, M., and Schwartz, T.W. 2003. High constitutive signaling of the ghrelin receptor: identification of a potent inverse agonist. Mol. Endocrinol. 17:2201-2210.
16. Garcia, A., Alvarez, C.V., Smith, R.G., and Dieguez, C. 2001. Regulation of Pit-1 expression by ghrelin and GHRP-6 through the GH secretagogue receptor. Mol. Endocrinol. 15:1484-1495.
17. Holst, B., et al. 2004. Common structural basis for constitutive activity of the ghrelin receptor family. J. Biol. Chem. 279:53806-53817.
18. Ranke, M.B., and Haber, P. 1996. Growth hormone stimulation tests. In Diagnostics of endocrine function in children and adolescents. M.B. Ranke and N. Albers, editors. Johann Ambrosius Barth Verlag. Heidelberg, Germany. 134-148.
19. Cappiello, V., et al. 2002. Circulating ghrelin levels in basal conditions and during glucose tolerance test in acromegalic patients. Eur. J. Endocrinol. 147:189-194.
20. Freda, P.U., Reyes, C.M., Conwell, I.M., Sundeen, R.E., and Wardlaw, S.L. 2003. Serum ghrelin levels in acromegaly: effects of surgical and long-acting octreotide therapy. J. Clin. Endocrinol. Metab.88:2037-2044.
21. Eden Engstrom, B., Burman, P., Holdstock, C., and Karlsson, F.A. 2003. Effects of growth hormone (GH) on ghrelin, leptin, and adiponectin in GH-deficient patients. J. Clin. Endocrinol. Metab. 88:5193-5198.
22. Morisset, S., et al. 2000. High constitutive activity of native H3 receptors regulates histamine neurons in brain. Nature. 408:860-864.
23. Seifert, R., and Wenzel-Seifert, K. 2002. Constitutive activity of G-protein-coupled receptors: cause of disease and common property of wild-type receptors. Naunyn Schmiedebergs Arch. Pharmacol. 366:381-416.
24. Feighner, S.D., et al. 1998. Structural requirements for the activation of the human growth hormone secretagogue receptor by peptide and nonpeptide secretagogues. Mol. Endocrinol. 12:137-145.
25. Parnot, C., Miserey-Lenkei, S., Bardin, S., Corvol, P., and Clauser, E. 2002. Lessons from constitutively active mutants of G protein-coupled receptors. Trends Endocrinol. Metab. 13:336-343.
26. Sunthornthepvarakui, T., Gottschalk, M.E., Hayashi, Y., and Refetoff, S. 1995. Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N. Engl. J. Med. 332:155-160.
27. Kremer, H., et al. 1995. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat. Genet. 9:160-164.
28. Aittomaki, K., et al. 1995. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 82:959-968.
29. Vaisse, C., et al. 2000. Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J. Clin. Invest. 106:253-262.
30. Farooqi, I.S., et al. 2000. Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. J. Clin. Invest.106:271-279.
31. Srinivasan, S., et al. 2004. Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans. J. Clin. Invest. 114:1158-1164. doi:10.1172/JCI200421927.
32. Wang, H.J., et al. 2004. Ghrelin receptor gene: identification of several sequence variants in extremely obese children and adolescents, healthy normal-weight and underweight students, and children with short normal stature. J. Clin. Endocrinol. Metab. 89:157-162.
33. Holst, B., and Schwartz, T.W. 2004. Constitutive ghrelin receptor activity as a signaling set-point in appetite regulation. Trends Pharmacol. Sci. 25:113-117.
34. Barsh, G.S., Farooqi, I.S., and O'Rahilly, S. 2000. Genetics of body-weight regulation. Nature.404:644-651.
35. Cummings, D.E., and Schwartz, M.W. 2003. Genetics and pathophysiology of human obesity. Annu. Rev. Med. 54:453-471.
36. Baessler, A., et al. 2005. Genetic linkage and association of the growth hormone secretagogue receptor (ghrelin receptor) gene in human obesity. Diabetes. 54:259-267.
37. Ranke, M.B. 1996. Towards a consensus on the definition of idiopathic short stature. Horm. Res. 45(Suppl. 2):64-66.
38. Sempé, M., Pedron, G., and Roy-Pernot, M.-P. 1979. Auxologie: methode et séquences. Laboratoire Theraplix. Paris, France. 205 pp.
39. Cole, T.J., Bellizzi, M.C., Flegal, K.M., and Dietz, W.H. 2000. Establishing a standard definition for child overweight and obesity worldwide: international survey. BMJ. 320:1240-1243.