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Molecular bases of growth hormone deficiency
Pilar Carvallo
Departamento de Bioquímica, Facultad de Medicina, Universidad de Chile, Casilla 70086, Santiago 7, Chile.
ABSTRACT
Keywords: growth hormone.
REFERENCES
Aguirre, E., Benitez, R., Youlton, R. and Carvallo, P. (1993). Molecular genetic analysis of the growth hormone locus in a Chilean family. Rev. Med. Chile 121: 982-986.
Bamberger, A.M., Bamberger, C.M., Pu, L.-P., Puy, L.A., Loh, P. and Asa, S.L. (1995). Expression pit-1 messenger ribonucleic acid and protein in the human placenta. J. Clin. Endocrinol. Metab. 80: 2021-2026.
Bichell, D.P., Kikuchi, K. and Rotwein, P. (1992). Growth hormone rapidly activates insulin-like growth factor I gene transcription in vivo. Mol. Endocrinol. 6: 1899-1908.
Bilezikjian, L. and Vale, W. (1983). Stimulation of 3'5'-monophosphate production by growth hormone releasing factor and its inhibition by somatostatin in anterior pituitary cells in vitro. Endocrinology 113: 1726-1731.
Binder, G. and Ranke, M.B. (1995). Screening for growth hormone (GH), gene splice site mutation in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis. J. Clin. Endocrinol. Metab. 80: 1247-1252.
Bowers, C.Y., Newell, D.C. and Alster, D.K. (1993). GHRP's small growth hormone releasing peptides. In: Progress in Endocrinology (Mornex, R., Jaffiol, C. and LeClere, J., eds.). Parthenon, New York, pp. 256-262.
Braga, S., Phillips III, J.A., Joss, E., Schwart, H. and Zuppinger, K. (1986). Familial growth hormone deficiency resulting from a 7.6 kb deletion within the growth hormone gene cluster. Am. J. Med. Genet. 25: 443-452.
Cao, Y., Wagner, J.K., Hindmarsh Eble, A. and Mullis, P.E. (1995). Isolated growth hormone deficiency: testing the little mouse hypothesis in man and exclusion of mutations within the extracellular domain of the growth hormone-releasing hormone receptor. Ped. Res. 38: 962-966.
Carter-Su, C., Schwartz, J. and Smit, L.S. (1996). Molecular mechanisms of growth hormone action. Ann. Rev. Physiol. 58: 187-207.
Casanueva, F.F. (1992). Physiology of growth hormone secretion and action. Endocrinol. Metab. Clin. North Am. 21: 483-517.
Chen, Y.E., Liao, Y., Smith, D.H., Barrera-Saldana, H.A., Gelinas, R.E. and Seeburg, P.H. (1989). The human growth hormone locus: Nucleotide sequence, biology, and evolution. Genomics 4: 479-497.
Cogan, J.D., Phillips III, J.A., Schenkman, R.D., Milner, R.D. and Sakatji, N. (1994). Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein J. Clin. Endocrinol. Metab. 79: 1261-1265.
Cogan, J.D., Ramel, B., Lehto, M., Phillips III, J.A., Blizzard, R.M., de Ravel, T.J., Brammert, M. and Groop, L. (1995). A recurrent dominant negative mutation causes autosomal dominant growth hormone deficiency: a clinical research study. J. Clin. Endocrinol. Metab. 80: 3591-3595.
Conley, M.E., Burks, A.W., Herrod, H.G. and Puck, J.M. (1991). Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency. J. Pediatr. 119: 392-397.
De Vos, A.M., Ultsch, M. and Kossiakoff, A.A. (1992). Human growth hormone and extracellular domain of its receptor: Crystal structure of the complex. Science 255: 306-312.
Dieguez, C., Mallo, F., Senaris, J., Pineda, J., Martul, P., Leal-Cerro, A., Pombo, M. and Casanueva, F.F. (1996). Role of glucocorticoids in the neuroregulation of growth hormone secretion J. Pediatr. Endocrinol. Metab. 9: 255-260.
Duriez, B., Duquesnoy, P., Dastot, F., Bougneres, F., Amselem, S. and Goosens, M. (1994). An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. FEBS Lett. 346: 165-170.
Gelato, M.C. and Merriam, C.R. (1986). Growth hormone releasing hormone. Ann. Rev. Physiol. 48: 569-591.
He, Y.A., Chen, S.S., Wang, Y.X., Lin, X.Y. and Wang, D.F. (1990). A familial growth hormone deficiency with a deletion of 7.1 kb of DNA. J. Med. Genet. 27: 151-154.
Howard, A.D., Feighner, S.D, Cully, D.F., Arena, J.P., Liberator, P.A., Rosenblum, C.I., Hamelin, M., Hreniuk, D.L., Palyha, O.C., Anderson, J., Paress, P.S., Diaz, C., Chou, M., Liu, K.K., McKee, K.K., Pong, S.S., Chaung, L.H., Elbrecht, A., Dashkevicz, M., Heavens, R., Rigby, M., Sirinathsinghji, D.J.S., Dean, D.C., Melillo, D.G., Patchett, A.A., Nargund, R., Griffin, P.R., De Martino, J.A., Gupta, S.N., Schaeffer, J.M., Smith, R.J. and Van der Ploeg, L.H.T. (1996). A receptor in pituitary and hypothalamus that functions in growth hormone release. Science 273: 974-977. ,
Ingraham, H.A., Chen, R., Mangalam, H.J., Elsholtz, H.P., Flynn, S.E., Lin, C.R., Simmons, D.M., Swanson, L. and Rosenfeld, M.G. (1988). A tissue specific transcription factor containing a homeo domain specifies a pituitary phenotype. Cell 55: 519-529.
Jones, B.K., Monks, B.R., Liebhaber, S.A. and Cooke, N.E. (1995). The human growth hormone gene is regulated by a multicomponent locus control region. Mol. Cell. Biol. 15: 7010-7021.
Kamijo, T. and Phillips III, J.A. (1992). Detection of a molecular heterogeneity in GH-1 gene deletions by analysis of polymerase chain reaction amplification products. J. Clin. Endocrinol. Metab. 74: 786-789.
Kelly, P.A., Djiane, J., Postel-Vinay, M.-C. and Edery, M. (1991). The prolactin/growth hormone receptor family. Endocr. Rev. 3: 235-238.
Labrie, F., Gagne, B. and Lefevre, G. (1983). Growth hormone-releasing factor stimulates adenylate cyclase activity in the anterior pituitary gland. Life Sci. 33: 2229-2233.
Lefevre, C., Imagawa, M., Dana, S., Grindlay, J., Bodner, M. and Karin, M. (1987). Tissue-specific expression of the human growth hormone gene is conferred in part by the binding of a specific trans-acting factor. EMBO J. 6: 971981.
Lemaigre, F.P., Peers, B., Lafontaine, D.A., Mathy-Hartert, M., Rousseau, G.G., Belayew, A. and Martial, J.A. (1989). Pituitary-specific factor binding to the human prolactin, growth hormone, and placental lactogen genes. DNA 8: 149-159.
Lemaigre, F.P., Lafontaine, D.A., Courtois, S.J., Durviaux, S.M. and Rousseau, G.G. (1990). Sp1 can displace GHF-1 from its distal binding site and stimulate transcription from the growth hormone gene promoter. Mol. Cell. Biol. 10:1811-1814.
Leung, D., Spencer, S., Cachianes, G., Hammonds, R., Collins, C., Henzel, W., Barnard, R., Waters, M. and Wood, W. (1987). Growth hormone receptor and serum binding protein: purification, cloning, and expression. Nature 330: 537-543.
Mahoney, C.P. (1987). Evaluating the child with short stature. Pediatr. Clin. North. Am. 34: 825-849.
Mathews, L.S., Norstedt, G. and Palmiter, R.D. (1986). Regulation of insulin-like growth factor I gene expression by growth hormone. Proc. Natl. Acad. Sci. 83: 9343-9347.
Mayo, K.E. (1992). Molecular cloning and expression of a pituitary-specific receptor for the growth hormone-releasing hormone. Mol. Endocrinol. 6: 1734-1744.
Mericq, V., Cassorla, F., Garcia, H., Avila, A., Bowers, C. and Merriam, G. (1995). Growth hormone (GH) responses to GH-releasing peptide and to GH-releasing hormone in GH deficient children. J. Clin. Endocrinol. Metab. 80: 1681-1684.
Miller, T.L. and Mayo, K.E. (1997). Glucocorticoids regulate pituitary growth-hormone releasing hormone receptor messenger ribonucleic acid expression. Endocrinology 138: 2458-2465.
Missarelli, C., Herrera, L., Mericq, V. and Carvallo, P. Two different 5' splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency. Hum. Genet. (in press).
Mullis, P.E., Akinci, A., Kanaka, A., Eble, A. and Brook, C.G.D. (1992). Prevalence of human growth hormone-1 gene deletions among patients with isolated growth hormone deficiency from different populations. Pediatr. Res. 31: 532-534.
Nachtigal, M.W., Nickel, B.E. and Cattini, P.A. (1993). Pituitary-specific repression of placental members of the human growth hormone gene family. J. Biol. Chem. 268: 8473-8479.
Nelson, C.V., Albert, H.P., Elsholtz, W.P., Lu, L.E.-W. and Rosenfeld, M.G. (1988). Activation of cell specific expression of rat growth hormone and prolactin genes by a common transcription factor. Science 239: 1400-1405.
Nishi, Y., Aihara, K., Usui, T., Phillips III, J.A., Mallonee, R.L. and Migeon, C.J. (1984). Isolated growth hormone deficiency type 1A in a Japanese family. J. Pediatr. 104: 885-889.
Nogami, H., Inoue, K. and Kawamura, K. (1997). Involvement of glucocorticoid-induced factor(s) in the stimulation of growth hormone expression in the fetal rat pituitary gland in vitro. Endocrinology 138: 1810-1815.
Nyborg, J.K., Nguyen, A.P. and Spindler, S.R. (1984). Relationship between thyroid and glucocorticoid hormone receptor occupancy, growth hormone, gene transcription and mRNA accumulation. J. Biol. Chem. 259:12377-12381.
Ogata, T., Petit, C., Rappold, G., Matsuo, N., Matsumoto, T. and Goodfellow, P. (1992). Chromosomal localization of a pseudoautosomal growth gene(s). J. Med. Genet. 29: 624-628.
Perez Jurado, L.A., Phillips III, J.A. and Francke, U. (1994). Exclusion of growth hormone (GH) releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysis. J. Clin. Endocrinol. Metab. 78: 622-628.
Phillips III, J.A. (1983). The growth hormone genes (hGH) and human disease. In: Recombinant DNA: Application to Human Disease (Caskey, C.T. and White, R., eds.). Banbury report 14, Cold Sprig Harbor, NY, pp. 305-315.
Phillips III, J.A. and Cogan, J.D. (1994). Genetic basis of endocrine disease, molecular basis of familial human growth hormone deficiency. J. Clin. Endocrinol. Metab. 78: 11-16.
Phillips III, J.A., Hjelle, B.L., Seeburg, P.H. and Zachmann, M. (1981). Molecular basis for familial isolated growth hormone deficiency. Proc. Natl. Acad. Sci. LISA 78: 6372-6375.
Phillips III, J.A., Ferrandez, A., Frisch, H., Illig, R. and Zuppinger, K. (1986). Defects of growth hormone genes: clinical syndromes. In: Disorders of Human Growth, Advances in Research and Treatment (Grave, G.D. and Cassorla, F.G., eds.). Plenum Press, NY, pp. 211-226.
Rivarola, M.A., Phillips III, J.A., Migeon, C.L., Heinrich, J.J. and Hjelle, B. (1984). Phenotypic heterogeneity in familial isolated growth hormone deficiency. J. Clin. Endocrinol. Metab. 59: 34-40.
Thakore, J.H. and Dinan, T.G. (1994). Growth hormone secretion: The role of glucocorticoids. Life Sci. 55: 1083-1099.
Trippel, S.B., Corvol, M.T., Dumontier, M.F., Rappaport, R., Hung, H.H. and Mankin, H.J. (1989). Effect of somatomedin C/insulin like growth factor I and growth hormone on cultured growth plate and articular chondrocytes. Pediatric. Res. 25: 76-82.
Ullrich, A., Gray, A., Tam, A., Yang-Feng, T., Tsubokawa, M., Collins, C., Henzel, W., LeRon, T., Kathuria, S., Chen, E., Jacobs, S., Francke, U., Ramachandran, J. and Fujita-Yamaguchi, Y. (1986). Insulin-like growth factor I receptor primary structure: comparison with insulin receptor suggests structural determinants that define functional specificity. EMBO J. 5: 2503-2512.
Velicelebi, G., Patthi, S., Provow, S. and Akong, M. (1986). Covalent cross-linking of growth hormone-releasing factor to pituitary receptors. Endocrinology 118: 1278-1283.
Vnencak-Jones, C.L., Phillips III, J.A. and De-Fen, W. (1990). Use of polymerase chain reaction in detection of growth hormone gene deletions. J. Clin. Endocrinol. Metab. 70: 1550-1153.
Wajnrajch, M.P., Gertner, J.M., Harbison, M.D., Chua, S.C. and Leibel, R.L. (1996). Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the litlle (lit). mouse. Nat. Genet. 12: 88-90.
Walker, W.H., Fitzpatrick, S.L. and Saunders, G.F. (1990). Sequences responsible for human placental lactogen enhancer activity and binding of placental specific nuclear proteins. J. Biol. Chem. 265: 12940-12948.
Williams, T., Maxon, H., Thorner, M.O. and Frohman, L.A. (1985). Blunted growth hormone (GH) response to GH-releasing hormone in hypothyroidism resolves in the euthyroid state. J. Clin. Endocrinol. Metab. 61: 454-456.
Xu, W., Gorman, P.A., Rider, S.H., Hedge, P.J., Moore, G., Prichard, C., Sheer, D. and Solomon, E. (1988). Construction of a genetic map of human chromosome 17 by use of chromosome-mediated gene transfer. Proc. Natl. Acad. Sci. USA 85: 8563-8567.
Yamada, Y., Post, S., Wang, K., Tager, H., Bell, G. and Seino, S. (1992). Cloning and functional characterization of a family of human and mouse somatostatin receptors expressed in brain, gastrointestinal tract, and kidney. Proc. Natl. Acad. Sci. USA 89: 251-255.
Yokoyama, Y., Narahara, K., Tsuji, K., Moriwake, T., Kanzaki, S., Murakami, M., Namba, H., Ninomiya, S., Higuchi, J. and Seino, Y. (1992). Growth hormone deficiency and empty sella syndrome in a boy with dup(X) (q13.3-q21.2). Am. J. Med. Genet. 42: 660-664.