Isolated growth hormone deficiency and the GH-1 gene: Update 2002

Hormone Research

Volumn 58, Issue SUPPL. 3, 2002, Pages 2-6

  Binder, Gerhard ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

GH promotor; GH 1 gene; Growth hormone; IGHD

Indexed keywords

CIS ACTING ELEMENT; GROWTH HORMONE; GROWTH HORMONE 1; GROWTH HORMONE RELEASING FACTOR; GROWTH HORMONE RELEASING FACTOR RECEPTOR; RNA POLYMERASE; TRANS ACTING FACTOR; TRANSCRIPTION FACTOR PIT 1; UNCLASSIFIED DRUG; HUMAN GROWTH HORMONE; TRANSACTIVATOR PROTEIN;

ALLELE; CHROMOSOME 17Q; CYCLIC AMP RESPONSIVE ELEMENT; DNA FLANKING REGION; DOMINANT INHERITANCE; GENE CLUSTER; GENE EXPRESSION; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GROWTH HORMONE DEFICIENCY; HUMAN; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; RECESSIVE INHERITANCE; REVIEW; TRANSGENIC MOUSE; GENETIC TRANSCRIPTION; GENETICS; MUTATION; PROTEIN CONFORMATION;

HUMAN GROWTH HORMONE; HUMANS; MUTATION; PROTEIN CONFORMATION; TRANS-ACTIVATORS; TRANSCRIPTION, GENETIC;

EID: 0036438718     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (38)

1. Vimpani GV, Vimpani AF, Lidgard GP, Cameron EH, Farquhar JW: Prevalence of severe growth hormone deficiency. Br Med J 1977;2:427-430.
2. Tanner JM: Human growth hormone. Nature 1972;237:433-439.
3. Phillips JA III, Cogan JD: Genetic basis of endocrine disease 6: Molecular basis of familial human growth hormone deficiency. J Clin Endocrinol Metab 1994;78:11-16.
4. Hirt H, Kimelman J, Birnbaum MJ, Chen EY, Seeburg PH, Eberhardt NL, Barta A: The human growth hormone gene locus: Structure, evolution and allelic variations. DNA 1987;6:59-70.
5. Chen EY, Liao YC, Smith DH, Barrera-Saldana HA, Gelinas RE, Seeburg PH: The human growth hormone locus: Nucleotide sequence, biology and evolution. Genomics 1989;4:479-497.
6. MacLeod JN, Worsley I, Ray J, Friesen HG, Liebhaber SA, Cooke NE: Human growth hormone variant is a biologically active somatogen and lactogen. Endocrinology 1991;128:1298-1302.
7. Baumann G: Growth hormone heterogeneity: Genes, isohormones, variants and binding proteins. Endocr Rev 1991;12:424-449.
8. Binder G, Ranke MB: Screening for growth hormone (GH) gene splice site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis. J Clin Endocrinol Metab 1995;81:1247-1252.
9. Tsunekawa B, Wada M, Ikeda M, Banba S, Kamachi H, Tanaka E, Honjo M: The binding between the stem regions of human growth hormone (GH) receptor compensates for the weaker site 1 binding of 20 kDa human GH (hGH) than that of 22 kDa hGH. J Biol Chem 2000;275:15652-15656.
10. Phillips JA III, Hjelle B, Seeburg PH, Zachmann M: Molecular basis for familial isolated growth hormone deficiency. Proc Natl Acad Sci USA 1981;78:6372-6375.
11. Akinci A, Kanaka C, Eble A, Akar N, Vidinlisan S, Mullis PE: Isolated growth hormone (GH) deficiency type IA associated with a 45-kilobase gene deletion within the human GH gene cluster. J Clin Endocrinol Metab 1992;75:437-441.
12. Illig R, Prader A, Ferrandez A, Zachmann M: Hereditary prenatal growth hormone deficiency with increased tendency to growth hormone antibody formation ('A type' isolated growth hormone deficiency). Acta Paediatr Scand 1971;60(suppl):607.
13. Procter AM, Phillips JA III, Cooper DN: The molecular genetics of growth hormone deficiency. Hum Genet 1998;103:255-272.
14. Mori K: Tripartite management of unfolded proteins in the endoplasmatic reticulum. Cell 2000;101:451-454.
15. Wagner JK, Eble A, Hindmarsh PC, Mullis PE: Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency. Pediatr Res 1998;43:105-110.
16. Binder G, Keller E, Mix M, Massa GG, Stokvis-Brantsma WH, Wit JM, Ranke MB: Isolated growth hormone deficiency with dominant inheritance (IGHD II): New mutations, new insights. J Clin Endocrinol Metab 2001;86:3877-3881.
17. Binder G, Brown M, Parks JS: Mechanisms responsible for dominant expression of human growth hormone gene mutations. J Clin Endocrinol Metab 1996;81:4047-4050.
18. Hayashi Y, Yamamoto M, Ohmori S, Kamijo T, Ogawa M, Seo H: Inhibition of growth hormone (GH) secretion by a mutant GH-1 gene product in neuroendocrine cells containing secretory granules: An implication for isolated GH deficiency inherited in an autosomal dominant manner. J Clin Endocrinol Metab 1999;84:2134-2139.
19. Lee MS, Wajnrajch MP, Kim SS, Plotnick LP, Wang J, Gertner JM, Leibel RL, Dannies PS: Autosomal dominant growth hormone (GH) deficiency type II: The del32-71-GH deletion mutant suppresses secretion of wild-type GH. Endocrinology 2000;141:883-890.
20. Gertner JM, Wajnrajch MP, Leibel RL: Genetic defects in the control of growth hormone secretion. Horm Res 1998;49(suppl 1):9-14.
21. Duquesnoy P, Simon D, Netchine I, Dastot F, Sobrier ML, Goosens M, Czernichow P, Amselem S: Familial isolated growth hormone deficiency with slight height reduction due to a heterozygote mutation in GH gene (abstract). Proc 80th Annual Meeting of the Endocrine Society, 1998, P02-202.
22. Takahashi Y, Kaji Y, Okimura H, Goji H, Abe H, Chihara K: Short stature caused by a mutant growth hormone. N Engl J Med 1996;312:214-217.
23. Takahashi Y, Shirono H, Arisaka O, Takahashi K, Yagi T, Koga J, Kaji H, Okimura Y, Abe H, Tanaka T, Chihara K: Biologically inactive growth hormone caused by an amino acid substitution. J Clin Invest 1997;100:1159-1165.
24. Theill LE, Karin M: Transcriptional control of GH expression and anterior pituitary development. Endocr Rev 1993;14:670-689.
25. Shepard AR, Zhang W, Eberhardt NL: Two CGTCA motifs and a GHF1/Pit1 binding site mediate cAMP-dependent protein kinase A regulation of human growth hormone gene expression in rat anterior pituitary GC cells. J Biol Chem 1994;269:1804-1814.
26. Lipkin SM, Näär AM, Kalla KA, Sack RA, Rosenfeld MG: Identification of a novel zinc finger protein binding a conserved element critical for Pit-1-dependent growth hormone gene expression. Genes Dev 1993;7:1674-1687.
27. Wagner JK, Eble A, Cogan JD, Prince MA, Phillips JA III, Mullis PE: Allelic variations in the human growth hormone-1 gene promotor of growth hormone-deficient patients and normal controls. Eur J Endocrinol 1997;137:474-481.
28. Binder G, Kampouridis L, Benz M, Ranke MB: Growth hormone gene promotor polymorphisms in idiopathic short stature (abstract). Horm Res 1997;48:93.
29. Giordano M, Marchetti C, Chiorboli E, Bona G, Richiardi PM: Evidence for gene conversion in the generation of extensive polymorphism in the promotor of the growth hormone gene. Hum Genet 1997;100:249-255.
30. Jones BK, Monks BR, Liebhaber SA, Cooke NE: The human growth hormone gene is regulated by a multicomponent locus control region. Mol Cell Biol 1995;15:7010-7021.
31. Jin Y, Surabhi RM, Fresnoza A, Lytras A, Cattini PA: A role for A/T-rich sequences and Pit-1/GHF-1 in a distal enhancer located in the human growth hormone locus control region with preferential pituitary activity in culture and transgenic mice. Mol Endocrinol 1999;13:1249-1266.
32. Parks JS, Brown MR, Hurley DL, Phelps CJ, Wajnrajch MP: Heritable disorders of pituitary development. J Clin Endocrinol Metab 1999;84:4362-4370.
33. Lira SA, Kalla KA, Glass CK, Drolet DW, Rosenfeld MG: Synergistic interactions between Pit-1 and other elements are required for effective somatotroph rat growth hormone gene expression in transgenic mice. Mol Endocrinol 1993;7:694-701.
34. Pfäffle RW, Kim C, Otten B, Wit JM, Eiholzer U, Heimann G, Parks J: Pit-1: Clinical aspects. Horm Res 1996;45(suppl):25-28.
35. Mayo KE, Godfrey PA, Suhr ST, Kulik DJ, Rahal JO: Growth hormone-releasing hormone: Synthesis and signaling. Recent Prog Horm Res 1995;50:35-73.
36. Wajnrajch MP, Gertner JM, Harbison MD, Chua SC Jr, Leibel RL: Nonsense mutation in the growth hormone-releasing hormone receptor causes growth failure analogous to the little mouse. Nat Genet 1996;12:88-90.
37. Landis CA, Masters SB, Spada A: GTPase-inhibiting mutations activate the αchain of Gs and stimulate adenyl cyclase in human pituitary tumors. Nature 1989;340:692-696.
38. Cohen LE, Hashimoto Y, Zanger K, Wondisford F, Radovick S: CREB-independent regulation by CBP is a novel mechanism of human growth hormone gene expression. J Clin Invest 1999;104:1123-1130.