A novel Y332C missense mutation in the intracellular domain of the human growth hormone receptor does not alter STAT5b signaling: Redundancy of GHR intracellular tyrosines involved in STAT5b signaling

Hormone Research in Paediatrics

Volumn 75, Issue 3, 2011, Pages 187-199

  Derr, Michael A ^a   Fang, Peng ^a   Sinha, Sunil K ^b   Ten, Svetlana ^b   Hwa, Vivian ^a   Rosenfeld, Ron G ^a  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b SUNY DOWNSTATE MEDICAL CENTER   (United States)

Author keywords

Growth hormone receptor defect; Growth hormone receptor intracellular tyrosines; STAT5b

Indexed keywords

GROWTH HORMONE RECEPTOR; RECOMBINANT GROWTH HORMONE; STAT5B PROTEIN; TYROSINE;

ARTICLE; BODY HEIGHT; CASE REPORT; CELL ACTIVATION; CHILD; CONTROLLED STUDY; GROWTH HORMONE DEFICIENCY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; SIGNAL TRANSDUCTION;

ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; GENES, REPORTER; HEK293 CELLS; HUMANS; LARON SYNDROME; MALE; MUTAGENESIS, SITE-DIRECTED; MUTANT PROTEINS; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, SOMATOTROPIN; RECOMBINANT FUSION PROTEINS; SEQUENCE ALIGNMENT; SIGNAL TRANSDUCTION; STAT5 TRANSCRIPTION FACTOR; TYROSINE;

EID: 79952573494     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000320461     Document Type: Article

References (36)

1. Savage MO, Attie KM, David A, Metherell LA, Clark AJ, Camacho-Hubner C: Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders. Nat Clin Pract Endocrinol Metab 2006;2:395-407. (Pubitemid 44050109)
2. Diniz ET, Jorge AA, Arnhold IJ, Rosenbloom AL, Bandeira F: Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome (in Portuguese). Arq Bras Endocrinol Metab 2008;52:1263-1270.
3. Woods KA, Camacho-Hubner C, Savage MO, Clark AJ: Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. New Engl J Med 1996;335:1363-1367. (Pubitemid 26360455)
4. Walenkamp MJE, Karperien M, Pereira AM, Hilhorst-Hofstee Y, van Doorn J, Chen JW, Mohan S, Denley A, Forbes BE, van Duyvenvoorde H, van Thiel SW, Sluimers CA, Bax JJ, de Laat JAPM, Breuning MB, Romijn JA, Wit JM: Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. J Clin Endocrinol Metab 2005;90:2855-2864. (Pubitemid 40686336)
5. Rosenfeld RG, Belgorosky A, Camacho-Hubner C, Savage MO, Wit JM, Hwa V: Defects in growth hormone receptor signaling. Trends Endocrinol Metab 2007;18:134-141. (Pubitemid 46629026)
6. Netchine I, Azzi S, Houang M, Seurin D, Perin L, Ricot J-M, Daubas C, Legay C, Mester J, Herich R, Godeau F, Le Bouc Y: Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF-1 mutation demonstrates its critical role in growth and brain development. J Clin Endocrinol Metab 2009;94:3913-3921.
7. Rosenfeld RG, Hwa V: New molecular mechanisms of growth hormone resistance. Eur J Endocrinol 2004;150:1-6.
8. Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Hubner C, Savage MO, Bidlingmaier CM, Clark AJL, Ross RJM, Webb SM: Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT5 signal transduction. J Clin Endocrinol Metab 2004;89:1259-1266. (Pubitemid 38368423)
9. Tiulpakov A, Rubtsov P, Peterkova V, Bezlepkina O, Chrousos GP, Hochberg Z: A novel C-terminal growth hormone receptor (GHR) mutation results in impaired GHR-STAT5 but normal STAT3 signaling. J Clin Endocrinol Metab 2005;90:542-547. (Pubitemid 40116706)
10. Brown RJ, Adams JJ, Pelekanos RA, Wan Y, Mckinstry WJ, Palethorpe K, Seeber RM, Monks TA, Eidne KA, Parker MW, Waters MJ: Model for growth hormone receptor activation based on subunit rotation within a receptor dimer. Nat Struct Mol Biol 2005;12:814-821. (Pubitemid 43086257)
11. Wang X, Darus CJ, Xu BC, Kopchick JJ: Identification of growth hormone receptor (GHR) tyrosine residues required for GHR phosphorylation and JAK2 and STAT5 activation. Mol Endocrinol 1996;10:1249-1260. (Pubitemid 26330957)
12. Uyttendaele I, Lemmens I, Verhee A, De Smet AS, Vanderkerckhove J, Lavens D, Peelman F, Tavernier J: Mammalian protein-protein interaction trap (MAPPIT) analysis of STAT5, CIS, and SOCS2 interactions with the growth hormone receptor. Mol Endocrinol 2007;21:2821-2831.
13. Vanderkuur JA, Wang X, Zhang L, Allevato G, Billestrup N, Carter-Su C: Growth hormone-dependent phosphorylation of tyrosine 333 and/or 338 of the growth hormone receptor. J Biol Chem 1995;270:21738-21744.
14. Flores-Morales A, Greenhalgh CJ, Norstedt G, Rico-Bautista E: Negative regulation of growth hormone receptor signaling. Mol Endocrinol 2006;20:241-253. (Pubitemid 43152501)
15. Stofega MR, Herrington J, Billestrup N, Carter-Su C: Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GH-promoted tyrosyl-phosphorylation of GH receptor, JAK2, and STAT5B. Mol Endocrinol 2000;14:1338-1350.
16. Herrington J, Smit LS, Schwartz J, Carter-Su C: The role of STAT proteins in growth hormone signaling. Oncogene 2000;19:2585-2597. (Pubitemid 30339214)
17. Metherell LA, Akker SA, Munroe PB, Rose SJ, Caulfield M, Savage MO, Chew SL, Clark AJ: Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity. Am J Hum Genet 2001;69:641-646. (Pubitemid 32777702)
18. Ross RJM, Esposito N, Shen XY, Von Laue S, Chew SL, Dobson PRM, Poster-Vinay M-C, Finidori J: 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 1997;11:265-273. (Pubitemid 27106322)
19. Fang P, Kofoed EM, Little BM, Wang X, Ross RJM, Frank SJ, Hwa V, Rosenfeld RG: A mutant signal transducer and activator of transcription 5B, associated with growth hormone insensitivity and insulin-like growth factor-I deficiency, cannot function as a signal transducer or transcription factor. J Clin Endocrinol Metab 2006;91:1526-1534.
20. Hwa V, Little B, Kofoed EM, Rosenfeld RG: Transcriptional regulation of insulin-like growth factor-I by interferon-gamma requires STAT-5b. J Biol Chem 2004;279:2728-2736. (Pubitemid 38114262)
21. Bakker B, Frane J, Anhalt H, Lippe B, Rosenfeld RG: Height velocity targets from the national cooperative growth survey for firstyear growth hormone responses in short children. J Clin Endocrinol Metab 2008;93:352-357. (Pubitemid 351240802)
22. Harding PA, Wang XZ, Kelder B, Souza S, Okada S, Kopchick JJ: In vitro mutagenesis of growth hormone receptor Asn-linked glycosylation sites. Mol Cell Endocrinol 1994;106:171-180.
23. van den Eijnden MJ, Lahaye LL, Strous GJ: Disulfide bonds determine growth hormone receptor folding, dimerisation and ligand binding. J Cell Sci 2006;119:3078-3086. (Pubitemid 44322122)
24. Hansen LH, Wang X, Kopchick JJ, Bouchelouche P, Nielsen JH, Galsgaard ED, Billestrup N: Identification of tyrosine residues in the intracellular domain of the growth hormone receptor required for transcriptional signaling and STAT5 activation. J Biol Chem 1996;271:12669-12673. (Pubitemid 26160943)
25. Smit LS, Meyer DJ, Billestrup N, Norstedt G, Schwartz J, Carter-Su C: The role of the growth hormone (GH) receptor and JAK1 and JAK2 kinases in the activation of STATs 1, 3, and 5 by GH. Mol Endocrinol 1996;10:519-533.
26. Rowland JE, Lichanska AM, Kerr LM, White M, d'Aniello EM, Maher SL, Brown R, Teasdale RD, Noakes PG, Waters MJ: In vivo analysis of growth hormone receptor signaling domains and their associated transcripts. Mol Cell Biol 2005;25:66-77.
27. Aisenberg J, Auyeung V, Pedro JF, Sugalski R, Chartoff A, Rothenberg R, Derr MA, Hwa V, Rosenfeld RG: Atypical growth hormone insensitivity syndrome (GHIS) and severe insulin-like growth factor-I deficiency (IGFD) resulting from compound heterozygous mutations of the GH receptor (GHR), including a novel frameshift mutation affecting the intracellular domain. Horm Res 2010, in press
28. Kou K, Lajara R, Rotwein P: Amino acid substitutions in the intracellular part of the growth hormone receptor in a patient with the Laron syndrome. J Clin Endocrinol Metab 1993;76:54-59. (Pubitemid 23027552)
29. Goddard AD, Dowd P, Chernausek S, Geffner M, Gertner J, Hintz R, Hopwood N, Kaplan S, Plotnick L, Rogol A, Rosenfeld R, Saenger P, Mauras N, Hershkopf R, Angulo M, Attie K: Partial growth-hormone insensitivity: the role of growth-hormone receptor mutations in idiopathic short stature. J Pediatr 1997;131:S51-S55. (Pubitemid 27505699)
30. Baumbach L, Schiavi A, Bartlett R, Perera E, Day J, Brown MR, Stein S, Eidson M, Parks JS, Cleveland W: Clinical, biochemical, and molecular investigations of a genetic isolate of growth hormone insensitivity (Laron's syndrome). J Clin Endocrinol Metab 1997;82:444-451. (Pubitemid 27068609)
31. 31Iida K, Takahashi Y, Kaji H, Onodera N, Takahashi MO, Okimura Y, Abe H, Chihara K: The C422F mutation of the growth hormone receptor gene is not responsible for short stature. J Clin Endocrinol Metab 1999;84:4214-4219. (Pubitemid 30644220)
32. Chujo S, Kaji H, Takahashi Y, Okimura Y, Abe H, Chihara K: No correlation of growth hormone receptor gene mutation P561T with body height. Eur J Endocrinol 1996;134:560-562. (Pubitemid 26189097)
33. Fang P, Riedl S, Amselem S, Pratt KL, Little BM, Haeusler G, Hwa V, Frisch H, Rosenfeld RG: Primary growth hormone (GH) insensitivity 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 state. J Clin Endocrinol Metab 2007;92:2223-2231. (Pubitemid 46997127)
34. Rowlinson SW, Yoshizato H, Barclary JL, Brooks AJ, Behncken SN, Kerr LM, Millard K, Palethorpe K, Nielsen K, Clyde-Smith J, Hancock JF, Waters MJ: An agonist-induced conformational change in the growth hormone receptor determines the choice of signalling pathway. Nat Cell Biology 2008;10:740-747. (Pubitemid 351780137)
35. Barclary JL, Kerr LM, Arthur L, Rowland JC, Nelson CN, Ishikawa M, d'Aniello EM, White M, Noakes PG, Waters MJ: In vivo targeting of the growth hormone receptor (GHR) Box1 sequence demonstrates that the GHR does not signal exclusively through JAK2. Mol Endocrinol 2010;24:204-217.
36. Jin H, Lanning NJ, Carter-Su C: JAK2, but not Src family kinases, is required for STAT, ERK, and Akt signaling in response to growth hormone in preadipocytes and hepatoma cells. Mol Endocrinol 2008;22:1825-1841.