The D152H mutation found in growth hormone insensitivity syndrome impairs expression and function of human growth hormone receptor but is silent in rat receptor

Journal of Molecular Endocrinology

Volumn 21, Issue 1, 1998, Pages 61-72

  Esposito, N ^a   Wojcik, J ^a,b   Chomilier, J ^b   Martini, J F ^a   Kelly, P A ^a   Finidori, J ^a   Postel Vinay, M C ^a  

^a INSERM   (France)

^b UNIVERSITÉ PIERRE ET MARIE CURIE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE RECEPTOR;

ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CROSS LINKING; DRUG RECEPTOR BINDING; GENE EXPRESSION REGULATION; GENE MUTATION; GROWTH HORMONE DEFICIENCY; HORMONE BINDING; LARON SYNDROME; NONHUMAN; PRIORITY JOURNAL; RAT; RECEPTOR GENE; REPORTER GENE; SIGNAL TRANSDUCTION;

ANIMALS; BASE SEQUENCE; CELL LINE; CULTURE MEDIA, SERUM-FREE; DIMERIZATION; DNA PRIMERS; GROWTH DISORDERS; HUMANS; MODELS, MOLECULAR; MUTAGENESIS; MUTATION; RATS; RECEPTORS, SOMATOTROPIN;

EID: 0031877283     PISSN: 09525041     EISSN: None     Source Type: Journal    
DOI: 10.1677/jme.0.0210061     Document Type: Article

References (35)

1. Argetsinger LS, Campbell GS, Yang X, Witthuhn BA, Silvennoinen O, Ihle JN & Carter-Su C 1993 Identification of Jak2 as a growth hormone receptor-associated tyrosine kinase. Cell 74 237-244.
2. Baumann G, Stolar MW, Amburn K, Barsano CP & DeVries BC 1986 A specific growth hormone-binding protein in human plasma: initial characterization. Journal of Clinical Endocrinology and Metabolism 62 134-141.
3. Baumbach WR, Horner DL & Logan JS 1989 The growth hormone-binding protein in rat serum is an alternatively spliced form of the rat growth hormone receptor. Genes and Development 3 1199-1205.
4. Bazan JF 1990 Haemopoietic receptors and helical cytokines. Immunology Today 11 350-354.
5. Berg MA, Argente J, Chernausek S, Gracia R, Guevara-Aguirre J, Hopp M, Perez-Juardo L, Rodenbloom A, Toledo SPA & Francke U 1993 Diverse growth hormone receptor gene mutations in Laron syndrome. American Journal of Human Genetics 52 998-1005.
6. Bernstein FC, Koetzle TF, Williams GJB, Meyer EF, Brice MD, Rodgers JR, Kennard O, Shinamouchi T & Tasumi M 1977 The protein data bank: a computer based archival file for macromolecular structures. Journal of Molecular Biology 112 535-542.
7. Brooks B, Bruccoleri R, Olafson B, States D, Swaminathan S & Karplus M 1996 CHARMM: a program for macromolecular energy, minimization, and molecular dynamics calculations. Journal of Computational Chemistry 4 187-217.
8. Brünger AT, Karplus M & Petsko GA 1989 Crystallographic refinement by stimulated annealing: application to crambin. Acta Crystallographica A 45 50-61.
9. Buchanan CR, Maheshwari HG, Norman MR, Morell DJ & Preece MA 1991 Laron-type dwarfism with apparently normal high affinity serum growth hormone-binding protein. Clinical Endocrinology 35 179-185.
10. Cunningham BC, Ultsch M, De Vos AM, Mulkerrin MG, Clauser KR & Wells JA 1991 Dimerization of the extracellular domain of the human growth hormone receptor by a single hormone molecule. Science 254 821-825.
11. Daughaday WH & Trivedi B 1987 Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism). Proceedings of the National Academy of Sciences of the USA 84 4636-4640.
12. Delehaye-Zervas MC, Mertani H, Martini JF, Nihoul-Fekete C, Morel G & Postel-Vinay M-C 1994 Growth hormone receptor gene expression in human digestive tissues. Journal of Clinical Endocrinology and Metabolism 78 1473-1480.
13. De Vos AM, Ultsch M & Kossiakoff AA 1991 Human growth hormone and extracellular domain of its receptor: crystal structure of the complex. Science 255 306-312.
14. Dinerstein H, Lago F, Goujon L, Ferrag F, Esposito N, Finidori J, Kelly PA & Postel-Vinay M-C 1995 The proline-rich region of the growth hormone receptor is essential for Jak2 phosphorylation, activation of cell proliferation and gene transcription. Molecular Endocrinology 9 1701-1707.
15. Duquesnoy P, Sobrier ML, Duriez B, Dastot F, Buchanan CR, Savage MO, Preece MA, Craescu CT, Blouquit Y, Goossens M & Amselem S 1994 A single amino acid substitution in the exoplasmic domain of human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization. EMBO Journal 13 1386-1395.
16. Fuh G, Cunningham BC, Fukunaga R, Nagata S, Goeddel DV & Wells JA 1992 Rational design of potent antagonists to the human growth hormone receptor. Science 256 1677-1679.
17. Goujon L, Allevato G, Simonin G, Paquereau L, Le Cam A, Clark J, Nielsen JH, Djiane J, Postel-Vinay M-C, Edery M & Kelly PA 1994 Cytoplasmic domains of the growth hormone receptor necessary for signal transduction. Proceedings of the National Academy of Sciences of the USA 91 957-961.
18. Heldin CH 1995 Dimerization of cell surface receptors in signal transduction. Cell 80 213-223.
19. Hocquette JF, Postel-Vinay MC, Kayser C, de Hemptinne B & Amar-Costesec A 1989 The human liver growth hormone receptor. Endocrinology 125 2167-2173.
20. Ilondo MM, Damholt AB, Cunningham BC, Wells JA, De Meyts P & Shymko RM 1994 Receptor dimerization determines the effect of growth hormone in primary rat adipocytes and cultured human IM-9 lymphocytes. Endocrinology 134 2397-2403.
21. Ishizaka-Ikeda E, Fukunaga R, Wood WI, Goeddel DV & Nagata S 1993 Signal transduction mediated by growth hormone receptor and its chimeric molecules with the granulocyte colony-stimulating factor receptor. Proceedings of the National Academy of Sciences of the USA 90 123-127.
22. Laron Z, Pertzerlan A & Mannerheimer S 1966 Genetic pituitary dwarfism with high serum concentration of growth hormone - a new inborn error of metabolism? Israel Journal of Medical Sciences 2 152-155.
23. Leung DW, Spencer SA, Cachianes G, Hammonds RG, Collins C, Henzel WJ, Barnard R, Waters MJ & Wood WI 1987 Growth hormone receptor and serum binding protein: purification, cloning, and expression. Nature 330 537-543.
24. Munson PJ & Rodbard O 1980 Ligand: a versatile computerized approach for characterization of ligand binding systems. Analytical Biochemistry 107 220-239.
25. Peeters S & Friesen HG 1977 A growth hormone binding factor in the serum of pregnant mice. Endocrinology 101 1164-1174.
26. Peitsch MC 1995 Protein modeling by E-mail. Biotechnology 13 658-660.
27. Richmond TJ & Richards FM 1978 Packing of α-helices: geometrical constraints and contact areas. Journal of Molecular Biology 119 537-555.
28. Savage MO, Blum WF, Ranke MB, Postel-Vinay M-C, Cotterill AM, Hall K, Chatelain PG, Preece MA & Rosenfeld RG 1993 Clinical features and endocrine status in patients with GH insensitivity (Laron syndrome). Journal of Clinical Endocrinology and Metabolism 77 1465-1471.
29. Smith WC, Kuniyoshi J & Talamantes F 1989 Mouse serum growth hormone (GH) binding protein has GH receptor extracellular and substituted transmembrane domains. Molecular Endocrinology 3 984-990.
30. Sotiropoulos A, Goujon L, Simonin G, Kelly PA, Postel-Vinay M-C & Finidori J 1993 Evidence for generation of the growth hormone-binding protein through proteolysas of the growth hormone membrane receptor. Endocrinology 132 1863-1865.
31. Sotiropoulos A, Perrot-Applanat M, Dinerstein H, Pallier A, Postel-Vinay M-C, Finidori J & Kelly PA 1994 Distinct cytoplasmic regions of the growth hormone receptor are required for activation of Jak2, mitogen-activated protein kinase, and transcription. Endocrinology 135 1292-1298.
32. Spencer SA, Hammonds RG, Henzel WJ, Rodriguez H, Waters MJ & Wood WI 1988 Rabbit liver growth hormone receptor and serum binding protein: purification, characterization and sequence. Journal of Biological Chemistry 263 7862-7867.
33. Tar A, Hocquette JF, Souberbielle JC, Clot JP, Brauner R & Postel-Vinay M-C 1990 Evaluation of the growth hormone-binding proteins in human plasma using HPLC-gel filtration. Journal of Clinical Endocrinology and Metabolism 71 1202-1207.
34. Wood TJJ, Sliva D, Lobie PE, Pircher T, Gouilleux F, Wakao H, Gustafsson JA, Groner B, Norstedt G & Haldosen LA 1995 Mediation of growth hormone-dependent transcriptional activation by mammary gland factor/Stat5. Journal of Biological Chemistry 270 9448-9453.
35. Ymer SI & Herington AC 1985 Evidence for specific binding of growth hormone to a receptor like-protein in rabbit serum. Molecular and Cellular Endocrinology 41 153-161.