Growth hormone (GH) insensitivity and insulin-like growth factor-I deficiency in inuit subjects and an Ecuadorian cohort: Functional studies of two codon 180 GH receptor gene mutations

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 3, 2008, Pages 1030-1037

  Fang, Peng ^a   Girgis, Rose ^b   Little, Brian M ^a   Pratt, Katherine L ^a   Guevara Aguirre, Jaime ^c   Hwa, Vivian ^a,f   Rosenfeld, Ron G ^a,d,e  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b UNIVERSITY OF ALBERTA   (Canada)

^c INSTITUTE OF ENDOCRINOLOGY   (Ecuador)

^d LUCILE PACKARD CHILDREN S HOSPITAL   (United States)

^e STANFORD UNIVERSITY   (United States)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; GROWTH HORMONE BINDING PROTEIN; GROWTH HORMONE RECEPTOR; SOMATOMEDIN BINDING PROTEIN 1; SOMATOMEDIN BINDING PROTEIN 3;

ARTICLE; CASE REPORT; CELL MIGRATION; CELL SURFACE; CODON; COHORT ANALYSIS; CONTROLLED STUDY; DIMERIZATION; ECUADOR; ESKIMO; FEMALE; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC TRANSCRIPTION; GROWTH HORMONE INSENSITIVITY; HORMONE BINDING; HORMONE BLOOD LEVEL; HORMONE DEFICIENCY; HORMONE RESISTANCE; HUMAN; HUMAN CELL; INFANT; INSULIN LIKE GROWTH FACTOR 1 INSUFFICIENCY; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

EID: 40849083518     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2007-2022     Document Type: Article

References (42)

1. de Vos AM, Ultsch M, Kossiakoff AA 1992 Human growth hormone and extracellular domain of its receptor: crystal structure of the complex. Science 255:306-312
2. Behncken SN, Waters MJ 1999 Molecular recognition events involved in the activation of the growth hormone receptor by growth hormone. J Mol Recognit 12:355-362
3. Brown RJ, Adams JJ, Pelekanos RA, Wan Y, McKinstry WJ, Palethorpe K, Seeber RM, Monks TA, Eidne KA, Parker MW, Waters MJ 2005 Model for growth hormone receptor activation based on subunit rotation within a receptor dimer. Nat Struct Mol Biol 12:814-821
4. Yang N, Wang X, Jiang J, Frank SJ 2007 Role of the growth hormone (GH) receptor transmembrane domain in receptor predimerization and GH-induced activation. Mol Endocrinol 21:1642-1655
5. Rosenfeld R, Rosenbloom A, Guevara-Aguirre J 1994 Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev 15:369-390
6. Laron Z 2004 Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003. J Clin Endocrinol Metab 89:1031-1044
7. Savage MO, Attie KM, David A, Metherell LA, Clark AJ, Camacho-Hubner C 2006 Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders. Nat Clin Pract Endocrinol Metab 2:395-407
8. Berg MA, Guevara-Aguirre J, Rosenbloom AL, Rosenfeld RG, Francke U 1992 Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorian patients with Laron syndrome. Hum Mutat 1:24-32
9. Sobrier ML, Dastot F, Duquesnoy P, Kandemir N, Yordam N, Goossens M, Amselem S 1997 Nine novel growth hormone receptor gene mutations in patients with Laron syndrome. J Clin Endocrinol Metab 82:435-437
10. Baumbach L, Schiavi A, Bartlett R, Perera E, Day J, Brown MR, Stein S, Eidson M, Parks JS, Cleveland W 1997 Clinical, biochemical, and molecular investigations of a genetic isolate of growth hormone insensitivity (Laron's syndrome). J Clin Endocrinol Metab 82:444-451
11. Amselem S, Duquesnoy P, Duriez B, Dastot F, Sobrier ML, Valleix S, Goossens M 1993 Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome. Hum Mol Genet 2:355-359
12. Otsuka T, Iwatani N, Kodama M, Sakakida M, Shichiri M, Jinno Y, Niikawa N, Miike T 1997 The growth hormone receptor gene mutation of a Japanese patient with Laron syndrome. Jpn J Hum Genet 42:323-329
13. Berg MA, Argente J, Chernausek S, Gracia R, Guevara-Aguirre J, Hopp M, Perez-Jurado L, Rosenbloom A, Toledo SP, Francke U 1993 Diverse growth hormone receptor gene mutations in Laron syndrome. Am J Hum Genet 52:998-1005
14. Silbergeld A, Dastot F, Klinger B, Kanety H, Eshet R, Amselem S, Laron Z 1997 Intronic mutation in the growth hormone (GH) receptor gene from a girl with Laron syndrome and extremely high serum GH binding protein: extended phenotypic study in a very large pedigree. J Pediatr Endocrinol Metab 10:265-274
15. Woods KA, Fraser NC, Postel-Vinay MC, Savage MO, Clark AJ 1996 A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein. J Clin Endocrinol Metab 81:1686-1690
16. Ayling RM, Ross R, Towner P, Von Laue S, Finidori J, Moutoussamy S, Buchanan CR, Clayton PE, Norman MR 1997 A dominant-negative mutation of the growth hormone receptor causes familial short stature. Nat Genet 16:13-14
17. Iida K, Takahashi Y, Kaji H, Nose O, Okimura Y, Abe H, Chihara K 1998 Growth hormone (GH) insensitivity syndrome with high serum GH-binding protein levels caused by a heterozygous splice site mutation of the GH receptor gene producing a lack of intracellular domain. J Clin Endocrinol Metab 83:531-537
18. Metherell LA, Akker SA, Munroe PB, Rose SJ, Caulfield M, Savage MO, Chew SL, Clark AJ 2001 Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity. Am J Hum Genet 69:641-646
19. David A, Camacho-Hubner C, Bhangoo A, Rose SJ, Miraki-Moud F, Akker SA, Butler GE, Ten S, Clayton PE, Clark AJ, Savage MO, Metherell LA 2007 Anintronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes. J Clin Endocrinol Metab 92:655-659
20. Rosenbloom AL, Guevara Aguirre J, Rosenfeld RG, Fielder PJ 1990 The little women of Loja - growth hormone-receptor deficiency in an inbred population of southern Ecuador. N Engl J Med 323:1367-1374
21. Fang P, Riedl S, Amselem S, Pratt KL, Little BM, Haeusler G, Hwa V, Frisch H, Rosenfeld RG 2007 Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: genetic and functional studies of simple and compound heterozygous states. J Clin Endocrinol Metab 92:2223-2231
22. Ross RJ, Esposito N, Shen XY, Von Laue S, Chew SL, Dobson PR, Postel-Vinay MC, Finidori J 1997 A short isoform of the human growth hormone receptor functions as a dominant negative inhibitor of the full-length receptor and generates large amounts of binding protein. Mol Endocrinol 11:265-273
23. Maamra M, Milward A, Esfahani HZ, Abbott LP, Metherell LA, Savage MO, Clark AJ, Ross RJ 2006 A 36 residues insertion in the dimerization domain of the growth hormone receptor results in defective trafficking rather than impaired signaling. J Endocrinol 188:251-261
24. Zhang Y, Guan R, Jiang J, Kopchick JJ, Black RA, Baumann G, Frank SJ 2001 Growth hormone (GH)-induced dimerization inhibits phorbol ester-stimulated GH receptor proteolysis. J Biol Chem 276:24565-24573
25. Jiang J, Wang X, He K, Li X, Chen C, Sayeski PP, Waters MJ, Frank SJ 2004 A conformationally sensitive GHR [growth hormone (GH) receptor] antibody: impact on GH signaling and GHR proteolysis. Mol Endocrinol 18:2981-2996
26. Harding PA, Wang XZ, Kelder B, Souza S, Okada S, Kopchick JJ 1994 In vitro mutagenesis of growth hormone receptor Asn-linked glycosylation sites. Mol Cell Endocrinol 106:171-180
27. van den Eijnden MJ, Lahaye LL, Strous GJ 2006 Disulfide bonds determine growth hormone receptor folding, dimerisation and ligand binding. J Cell Sci 119:3078-3086
28. Rosenbloom AL, Guevara-Aguirre J, Rosenfeld RG, Francke U 1999 Growth hormone receptor deficiency in Ecuador. J Clin Endocrinol Metab 84:4436-4443
29. Clackson T, Ultsch MH, Wells JA, de Vos AM 1998 Structural and functional analysis of the 1:1 growth hormone:receptor complex reveals the molecular basis for receptor affinity. J Mol Biol 277:1111-1128
30. Waters MJ 1999 The growth hormone receptor. In: Goodman M, ed. Handbook of physiology - section 7: the endocrine system. Vol. 5. New York: Oxford University Press; 445-480
31. Bass SH, Mulkerrin MG, Wells JA 1991 A systematic mutational analysis of hormone-binding determinants in the human growth hormone receptor. Proc Natl Acad Sci USA 88:4498-4502
32. Gent J, van Kerkhof P, Roza M, Bu G, Strous GJ 2002 Ligand-independent growth hormone receptor dimerization occurs in the endoplasmic reticulum and is required for ubiquitin system-dependent endocytosis. Proc Natl Acad Sci USA 99:9858-9863
33. Gent J, Van Den Eijnden M, Van Kerkhof P, Strous GJ 2003 Dimerization and signal transduction of the growth hormone receptor. Mol Endocrinol 17:967-975
34. Ellgaard L, Molinari M, Helenius A 1999 Setting the standards: quality control in the secretory pathway. Science 286:1882-1888
35. Trombetta ES, Parodi AJ 2003 Quality control and protein folding in the secretory pathway. Annu Rev Cell Dev Biol 19:649-676
36. Davidson HW, Balch WE 1993 Differential inhibition of multiple vesicular transport steps between the endoplasmic reticulum and trans Golgi network. J Biol Chem 268:4216-4226
37. Helenius A, Aebi M 2004 Roles of N-linked glycans in the endoplasmic reticulum. Annu Rev Biochem 73:1019-1049
38. Amselem S, Duquesnoy P, Attree O, Novelli G, Bousnina S, Postel-Vinay MC, Goossens M 1989 Laron dwarfism and mutations of the growth hormone-receptor gene. N Engl J Med 321:989-995
39. Duquesnoy P, Sobrier ML, Amselem S, Goossens M 1991 Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome. Proc Natl Acad Sci USA 88:10272-10276
40. Wojcik J, Berg MA, Esposito N, Geffner ME, Sakati N, Reiter EO, Dower S, Francke U, Postel-Vinay MC, Finidori J 1998 Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor. J Clin Endocrinol Metab 83:4481-4489
41. Guevara-Aguirre J, Rosenbloom AL, Fielder PJ, Diamond Jr FB, Rosenfeld RG 1993 Growth hormone receptor deficiency in Ecuador: clinical and biochemical phenotype in two populations. J Clin Endocrinol Metab 76:417-423
42. Fassone L, Corneli G, Bellone S, Camacho-Hubner C, Aimaretti G, Cappa M, Ubertini G, Bona G 2007 Growth hormone receptor gene mutations in two Italian patients with Laron Syndrome. J Endocrinol Invest 30:417-420