A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsα-L deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 92, Issue 5, 2007, Pages 1764-1768

  Thiele, Susanne ^a   Werner, Ralf ^a   Ahrens, Wiebke ^a   Hoppe, Ute ^a   Marschke, Christine ^a   Staedt, Pia ^a   Hiort, Olaf ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN GNAS; UNCLASSIFIED DRUG; CALCIUM; GNAS PROTEIN, HUMAN; MESSENGER RNA; PARATHYROID HORMONE; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ALBRIGHT SYNDROME; ARTICLE; CALCIUM BLOOD LEVEL; CASE REPORT; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPOTHYROIDISM; MENTAL DEFICIENCY; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; SCHOOL CHILD; STOP CODON; ALLELE; BIOSYNTHESIS; BLOOD; CHEMISTRY; ERYTHROCYTE MEMBRANE; GENETICS; IMMUNOBLOTTING; POINT MUTATION; PRESCHOOL CHILD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALLELES; CALCIUM; CHILD, PRESCHOOL; ERYTHROCYTE MEMBRANE; EXONS; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; HYPOTHYROIDISM; IMMUNOBLOTTING; MENTAL RETARDATION; PARATHYROID HORMONE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PSEUDOHYPOPARATHYROIDISM; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 34249862513     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-2122     Document Type: Article

References (38)

1. Cabrera-Vera TM, Vanhauwe J, Thomas TO, Medkowa M, Preininger M, Mazzoni MR Hamm HE 2003 Insights into G protein structure, function and regulation. Endocr Rev 24:765-781
2. Weinstein LS, Liu J, Sakamoto A, Xie T, Chen M 2004 GNAS: normal and abnormal functions. Endocrinology 145:5459-5464
3. Kozasa T, Itoh H, Tsukamoto T, Kaziro Y1988 Isolation and characterization of the human Gsα gene. Proc Natl Acad Sci USA 85:2081-2085
4. Bray P, Carter A, Simons C, Guo V, Puckett C, Kamholz J, Spiegel A 1986 Human cDNA clones for four species of Gαs signal transduction protein. Proc Natl Acad Sci USA 83:8893-8897
5. Ishikawa Y, Bianchi C, Nadal-Ginard B, Homcy CJ 1990 Alternative promoter and 5́ exon generate a novel Gsα mRNA. J Biol Chem 265:8458-8462
6. Kehlenbach RH, Matthey J, Huttner B 1994 XLαs is a new type of G protein. Nature 372:804-809
7. Ischia R, Lovisetti-Scamihorn P, Hogue-Angeletti R, Wolkersdorfer M, Winkler H, Fischer-Colbrie R 1997 Molecular cloning and characterisation of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT 1b receptor antagonist activity. J Biol Chem 272:11657-11662
8. Hayard BE, Bonthron DT 2000 An imprinted antisense transcript at the human GNAS1 locus. Hum Mol Genet 9:835-841
9. Robishaw JD, Smigel MD, Gilman AG 1986 Molecular basis for two forms of the G protein that stimulates adenylate cyclase. J Biol Chem 261:9587-9590
10. Graziano MP, Casey PJ, Gilman AG 1987 Expression of cDNAs for G proteins in Escherichia coli. Two forms of Gsα stimulate adenylate cyclase. J Biol Chem 262:11375-11381
11. Mattera R, Graziano MP, Yatani A, Zhou Z, Graf R, Codina J, Birnbaumer L, Gilman AG, Brown AM 1989 Splice variants of the α subunit of the G protein Gs activate both adenylyl cyclase and calcium channels. Science 243:804-807
12. Hayward BE, Kamiya M, Strain L, Moran V, Campbell R, Hayashizaki Y, Bonthron DT 1998 The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc Natl Acad Sci USA 95:10038-10434
13. Weiss U, Ischia R, Eder S, Lovisetti-Scamihorn P, Bauer R, Fischer-Colbrie R 2000 Neuroendocrine secretory protein 55 (NESP55): alternative splicing onto transcripts of the GNAS gene and posttranslational processing of a maternally expressed protein. Neuroendocrinology 71:177-186
14. Swaroop A, Agarwl N, Gruen JR, Bick D, Weissman SM 1991 Differential expression of novel Gsα signal transduction protein cDNA species. Nucleic Acids Res 19:4725-4729
15. Mantovani G, Bondioni S, Locatelli M, Pedroni C, Lania AG, Ferrante E, Filopanti M, Beck-Peccoz P, Spada A 2004 Biallelic expression of the Gsα gene in human bone and adipose tissue. J Clin Endocrinol Metab 89:6316-6319
16. Wettschureck N, Offermanns S 2005 Mammalian G proteins and their cell type specific functions. Physiol Rev 85:1159-1204
17. Bastepe M, Weinstein LS, Ogata N, Kawaguchi H, Jüppner H, Kronenberg HM, Chung U 2004 Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo. Proc Natl Acad Sci USA 101:14794-14799
18. Farfel Z, Friedmann E 1986 Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency. Ann Intern Med 105:197-199
19. Albright F, Burnett CH, Smith PH, Parson W 1942 Pseudohypoparathyroidism - an example of Seabright-Bantam syndrome. Endocrinology 30:922-932
20. Bastepe M, Jüppner H 2005 GNAS locus and pseudohypoparathyroidism. Horm Res 63:65-74
21. Hayward BE, Barlier A, Korbonits M, Grossman AB, Jacquet P, Enjalbert A, Bonthron DT 2001 Imprinting of the G(s)-α gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest 107:R31-R36
22. Liu J, Erlichman B, Weinstein LS 2003 The stimulatory G protein α-subunit Gs-α is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab 88:4336-4341
23. Aldred MA, Trembath RC 2000 Activating and inactivating mutations in the human GNAS1 gene. Hum Mutat 16:183-189
24. Ahrens W, Hiort O, Staedt P, Kirschner T, Marschke C, Kruse K 2001 Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 86:4630-4634
25. De Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, Scire G, Crino A, Baroncelli GI, Salerno M, Di Maio S, Cappa M, Grosso S, Rigon F, Lala R, De Sanctis C, Danzani I 2003 Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. Pediatr Res 53:749-755
26. Spada A, Mantovani G, Lania A 2005 Inactivating and activating mutations of the Gsα gene. Ann Endocrinol (Paris) 66:258-263
27. Levine MA, Downs RW, Singer M, Marx SJ, Aurbach GD, Spiegel AM 1980 Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism syndrome. Biochem Biophys Res Commun 94:1319-1324
28. Marguet C, Mallet E, Basuyau JP, Martin D, Leroy M, Brunelle PH 1997 Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome. Horm Res 48:120-130
29. Campbell R, Gosden CM, Bonthron DT 1994 Parental origin of transcription from the human GNAS1 gene. J Med Genet 31:607-614
30. Hentze MW, Kulozik AE 1999 A perfect message: RNA surveillance and nonsense-mediated decay. Cell 96:307
31. Novotny J, Svobada P 1998 The long (Gsα-L) and short (Gsα-S) variants of the stimulatory guanine nucleotide-binding protein. Do they behave in an identical way? J Mol Endocrinol 20:163-173
32. Jones DT, Masters SB, Bourne HR, Reed RR 1990 Biochemical characterization of three stimulatory GTP-binding proteins. The large and small forms of Gs and the olfactory-specific G-protein, Golf. J Biol Chem 265:2671-2676
33. Zheng ZM 2004 Regulation of alternative RNA splicing by exon definition and exon sequences in viral and mammalian gene expression. J Biomed Sci 11:278-294
34. Mattera R, Codina J, Crozat A, Kidd V, Woo SLC, Birnbaumer L 1986 Identification by molecular cloning of two forms of the α-subunit of the human liver stimulatory (GS) regulatory component of adenylyl cyclase. FEBS Lett 206:36-42
35. Seifert R, Wenzel-Seifert K 2002 Review: constitutive activity of G-protein-coupled receptors: cause of disease and common property of wild-type receptors. Naunyn Schmiedebergs Arch Pharmacol 366:381-416
36. 2-adrenoreceptor-mediated signaling. J Biol Chem 273:5109-5116
37. Graziano MP, Freissmuth M, Gilman AG 1989 Expression of Gsα in Escherichia coli. Purification and properties of two forms of the protein. J Biol Chem 264:409-418
38. Wenzel-Seifert K, Liu HY, Seifert R 2002 Similarities and differences in the coupling of human β1 and β2-adrenoceptors to Gsα splice variants. Biochem Pharmacol 64:9-20