A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 10, 2009, Pages 3939-3947

  Godi, Michela ^a   Mellone, Simona ^a   Petri, Antonella ^a   Arrigo, Teresa ^b   Bardelli, Claudio ^a   Corrado, Lucia ^a   Bellone, Simonetta ^a   Prodam, Flavia ^a   Momigliano Richiardi, Patricia ^a   Bona, Gianni ^a   Giordano, Mara ^a  

^a UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^b UNIVERSITY OF MESSINA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE RELEASING FACTOR RECEPTOR; SIGNAL PEPTIDE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; ENVIRONMENTAL FACTOR; FEMALE; GENE MUTATION; GENOTYPE; GROWTH HORMONE DEFICIENCY; HEREDITY; HUMAN; IMMUNOLOCALIZATION; MAJOR CLINICAL STUDY; MALE; PEDIGREE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; STATISTICAL ANALYSIS; WESTERN BLOTTING; WILD TYPE;

EID: 70349923430     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0833     Document Type: Article

References (36)

1. Petersenn S, SchulteHM2000 Structure and function of the growth-hormone-releasing hormone receptor. Vitam Horm 59:35-69
2. Müller EE, Locatelli V, Cocchi D 1999 Neuroendocrine control of growth hormone secretion. Physiol Rev 79:511-607 (Pubitemid 29210930)
3. Mayo KE, Godfrey PA, Suhr ST, Kulik DJ, Rahal JO 1995 Growth hormone-releasing hormone: synthesis and signaling. Rec Prog Horm Res 50:35-73
4. Salvatori R, Fan X, Phillips 3rd JA, Espigares-Martin R, Martin De Lara I, Freeman KL, Plotnick L, Al-Ashwal A, Levine MA 2001 Three new mutations in the gene for growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type IB. J Clin Endocrinol Metab 86:273-279
5. Salvatori R, Fan X, Phillips 3rd JA, Prince M, Levine MA 2001 Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene. Clin Endocrinol (Oxf) 54:681-687 (Pubitemid 34211030)
6. Salvatori R, Aguiar-Oliveira MH, Monte LV, Hedges L, Santos NL, Pereira RM, Phillips JA 2002 Detection of a recurring mutation in the human growth hormone- releasing hormone receptor gene. Clin Endocrinol (Oxf) 57:77-80 (Pubitemid 34785887)
7. Carakushansky M, Whatmore AJ, Clayton PE, Shalet SM, Gleeson HK, Price DA, Levine MA, Salvatori R 2003 A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency. Eur J Endocrinol 148:25-30 (Pubitemid 36176001)
8. Haskin O, Lazar L, Jaber L, Salvatori R, Alba M, Kornreich L, Phillip M, Gat-Yablonski G 2006 A new mutation in the growth hormone-releasing hormone receptor gene in two Israeli Arab families. J Endocrinol Invest 29:122-130
9. Wajnrajch MP, Gertner JM, Harbison MD, Chua Jr SC, Leibel RL 1996 Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat Genet 12:88-90 (Pubitemid 26011326)
10. Salvatori R, Fan X, Veldhuis JD, Couch R 2002 Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor gene. Eur J Endocrinol 147:591-596 (Pubitemid 35414556)
11. Salvatori R, Fan X, Mullis PE, Haile A, Levine MA 2002 Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site. Mol Endocrinol 16:450-458 (Pubitemid 34214565)
12. Horikawa R 2002 Isolated GH deficiency due to inactivating mutation of GHRH receptor [Japanese]. Nippon Rinsho 60:297-305
13. Salvatori R, Hayashida CY, Aguiar-Oliveira MH, Phillips 3rd JA, Souza AH, Gondo RG, Toledo SP, Conceicão MM, Prince M, Maheshwari HG, Baumann G, Levine MA 1999 Familial Dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene. J Clin Endocrinol Metab 84:917-923
14. Alba M, Hall CM, Whatmore AJ, Clayton PE, Price DA, Salvatori R 2004 Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor gene. Clin Endocrinol (Oxf) 60:470-475 (Pubitemid 38482510)
15. Hilal L, Hajaji Y, Vie-Luton MP, Ajaltouni Z, Benazzouz B, Chana M, Chraïbi A, Kadiri A, Amselem S, Sobrier ML 2008 Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene. Mol Med 14:286-292 (Pubitemid 351785701)
16. Alba M, Salvatori R 2005 Naturally-occurring missense mutations in the human growth hormone-releasing hormone receptor alter ligand binding. J Endocrinol 186:515-521 (Pubitemid 41404070)
17. Growth Hormone Research Society 2000 Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. GH Research Society. J Clin Endocrinol Metab 85:3990-3993
18. Ghigo E, Bellone J, Aimaretti G, Bellone S, Loche S, Cappa M, Bartolotta E, Dammacco F, Camanni F 1996 Reliability of provocative tests to assess growth hormone secretory status. Study in 472 normally growing children. J Clin Endocrinol Metab 81:3323-3327 (Pubitemid 26296210)
19. Tanner JM, Whitehouse RH, Cameron N, Marshall WA, Healy WA, Goldstein H 1988 Assessment of skeletal maturity and prediction of adult height (TW2 method). San Diego: Academic Press
20. Jones AC, Austin J, Hansen N, Hoogendoorn B, Oefner PJ, Cheadle JP, O'Donovan MC 1999 Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clin Chem 45:1133-1140 (Pubitemid 29424249)
21. Martoglio B, Dobberstein B 1998 Signal sequences: more than just greasy peptides. Trends Cell Biol 8:410-1405 (Pubitemid 28458707)
22. Nothwehr SF, Gordon JI 1990 Structural features in the NH2-terminal region of a model eukaryotic signal peptide influence the site of its cleavage by signal peptidase. J Biol Chem 265:17202-17208 (Pubitemid 20334266)
23. Nagai K, Oubridge C, Kuglstatter A, Menichelli E, Isel C, Jovine L 2003 Structure, function and evolution of the signal recognition particle. EMBO J 22:3479-3485 (Pubitemid 36898325)
24. Kyte J, Doolittle RF 1982 A simple method for displaying the hydropathic character of a protein. J Mol Biol 157:105-132
25. Zanen G, Houben EN, Meima R, Tjalsma H, Jongbloed JD, Westers H, Oudega B, Luirink J, van Dijl JM, Quax WJ 2005 Signal peptide hydrophobicity is critical for early stages in protein export by Bacillus subtilis. FEBS J 272:4617-4630 (Pubitemid 41366986)
26. Taylor WR 1986 The classification of amino acid conservation. J Theor Biol 119:205-218
27. Cornette JL, Cease KB, Margalit H, Spouge JL, Berzofsky JA, DeLisi C 1987 Hydrophobicity scales and computational techniques for detecting amphipathic structures in proteins. J Mol Biol 195:659-685
28. Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM 1990 Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J Clin Invest 86:1084-1087 (Pubitemid 20370411)
29. Green PM, Mitchell VE, McGraw A, Goldman E, Giannelli F 1993 Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX. Hum Mutat 2:103-107 (Pubitemid 23170968)
30. Pidasheva S, Canaff L, Simonds WF, Marx SJ, Hendy GN 2005 Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia. Hum Mol Genet 14:1679-1690 (Pubitemid 40895520)
31. Lanza F, De La Salle C, Baas MJ, Schwartz A, Boval B, Cazenave JP, Caen JP 2002 A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP) IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex. Br J Haematol 118:260-266 (Pubitemid 34779547)
32. Király O, Boulling A, Witt H, Le Maréchal C, Chen JM, Rosendahl J, Battaggia C, Wartmann T, Sahin-Tóth M, Férec C 2007 Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis. Hum Mutat 28:469-476 (Pubitemid 46668605)
33. Beuret N, Rutishauser J, Bider MD, Spiess M 1999 Mechanism of endoplasmic reticulum retention of mutant vasopressin precursor caused by a signal peptide truncation associated with diabetes insipidus. J Biol Chem 274:18965-18972 (Pubitemid 129519314)
34. Chan D, Ho MS, Cheah KS 2001 Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia. Implications for the molecular basis of the disease. J Biol Chem 276:7992-7997 (Pubitemid 37385599)
35. Maheshwari HG, Silverman BL, Dupuis J, Baumann G 1998 Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh. J Clin Endocrinol Metab 83:4065-4074 (Pubitemid 28513597)
36. de Graaff LC, Argente J, Veenma DC, Herrebout MA, Friesema EC, Uitterlinden AG, Drent ML, Campos-Barros A, Hokken-Koelega AC 2009 Genetic screening of a Dutch population with isolated growth hormone deficiency. Clin Endocrinol (Oxf) 70:742-750