Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction

Human Mutation

Volumn 32, Issue 6, 2011, Pages 653-660

  Thiele, Susanne ^a   de Sanctis, Luisa ^b   Werner, Ralf ^a   Grötzinger, Joachim ^c   Aydin, Cumhur ^d,e   Jüppner, Harald ^d   Bastepe, Murat ^d   Hiort, Olaf ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY OF TURIN   (Italy)

^c UNIVERSITY OF KIEL   (Germany)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e GULHANE SCHOOL OF MEDICINE   (Turkey)

Author keywords

Albright hereditary osteodystrophy; GNAS; Gsa; PHP; Pseudohypoparathyroidism

Indexed keywords

BETA 2 ADRENERGIC RECEPTOR; CALCIUM; CHOLERA TOXIN; CYCLIC AMP; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; PARATHYROID HORMONE; PHOSPHOROUS ACID; THYROTROPIN; THYROTROPIN RECEPTOR;

ADOLESCENT; ALBRIGHT SYNDROME; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE STUDY; FEMALE; FREE LIOTHYRONINE INDEX; FREE THYROXINE INDEX; GENE; GENE MUTATION; GENE VECTOR; GNAS GENE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN INTERACTION; PSEUDOHYPOPARATHYROIDISM; PSEUDOHYPOPARATHYROIDISM TYPE IA; PSEUDOHYPOPARATHYROIDISM TYPE IB; PSEUDOHYPOPARATHYROIDISM TYPE IC; SCHOOL CHILD;

ADOLESCENT; AMINO ACID SEQUENCE; CELL LINE; CHILD; CHILD, PRESCHOOL; CYCLIC AMP; FEMALE; FIBROUS DYSPLASIA, POLYOSTOTIC; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PSEUDOHYPOPARATHYROIDISM; RECEPTORS, G-PROTEIN-COUPLED; SIGNAL TRANSDUCTION;

EID: 79957622746     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21489     Document Type: Article

References (31)

1. 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.
2. Aldred MA. 2006. Genetics of pseudohypoparathyroidism types Ia and Ic. J Pediatr Endocrinol Metab 19:635-640.
3. Bastepe M. 2008. The GNAS locus and pseudohypoparathyroidism. Adv Exp Med Biol 626:27-40.
4. Bastepe M, Gunes Y, Perez-Villamil B, Hunzelman J, Weinstein LS, Jüppner H. 2002. Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit. Mol Endocrinol 16:1912-1919.
5. Bastepe M, Jüppner H. 2005. GNAS locus and pseudohypoparathyroidism. Horm Res 63:65-74.
6. Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Jüppner H. 2001. Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus. Hum Mol Genet 10:1231-1241.
7. de Nanclares GP, Fernández-Rebollo E, Santin I, García-Cuartero B, Gaztambide S, Menéndez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Jüppner H, Hiort O, Castaño L, Bastepe M. 2007. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's herediatary osteodystrophy. J Clin Endocrinol Metab 92:2370-2373.
8. De Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, Soire G, Crino A, Baroncelli GI, Salerno M, Di Maio S, Cappa M, Grosso S, Rigon F, Lala R, De Sanctis C, Dianzani I. 2003. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. Pediatr Res 53:749-755.
9. Farfel Z, Brothers VM, Brickman AS, Conte F, Neer R, Bourne H. 1981. Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity. Pro Natl Acad Sci USA 78:3098-3102.
10. Hamm HE, Deretic A, Arendt A, Hargrave PA, Koenig B, Hofmann KP. 1998. Site of G protein binding to rhodopsin mapped with synthetic peptides from the alpha subunit. Science 241:832-835.
11. Jüppner H, Linglart A, Fröhlich LF, Bastepe M. 2006. Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus. Ann N Y Acad Sci 1068:250-255.
12. Jüppner H, Schipani E, Bastepe M, Cole DE, Lawson ML, Mannstadt M, Hendy GN, Plotkin H, Koshiyama H, Koh T, Crawford JD, Olsen BR, Vikkula M. 1998. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc Natl Acad Sci USA 95:11798-11803.
13. Kozasa T, Itoh H, Tsukamoto T, Kaziro Y. 1988, Isolation and characterization of the human Gs alpha gene. Proc Natl Acad Sci USA 85:2081-2085
14. Kraulis PJ. 1991. MOLSCRIPT: a program to produce both detailed and schematic plots of protein structures. J Appl Crystallogr 24:946-950.
15. Lania A, Mantovani G, Spada A. 2001. G protein mutations in endocrine diseases. Eur J Endocrinol 145:543-559.
16. Levine MA, Ahn TG, Klupt SF, Kaufman KD, Smallwood PM, Bourne HR, Sullivan KA, Van Dop C. 1988. Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy. Proc Natl Acad Sci USA 85:617-621.
17. Levine MA, Downs Jr RW, Singer M, Marx SJ, Aurbach GD, Spiegel AM. 1980. Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem Biophys Res Commun 94:1319-1324.
18. Linglart A, Carel JC, Garabedian M, Le T, Mallet E, Kottler ML. 2002. GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metab 87:189-197.
19. Linglart A, Mahon MJ, Kerachian MA, Berlach DM, Hendy GN, Jüppner H, Bastepe M. 2006. Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced cAMP formation mediated by human XL{alpha}s. Endocrinology 147:2253-2262.
20. Mantovani G, de Sanctis L, Barbieri AM, Elli FM, Bollati V, Vaira V, Labarile P, Bondioni S, Peverelli S, Lania AG, Beck-Peccoz P, Spada A. 2010. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients. J Clin Endocrinol Metab 95:651-658.
21. Mantovani G, Spada A. 2006. Mutations in the Gs alpha gene causing hormone resistance. Best Pract Res Clin Endocrinol Metab 20:501-513.
22. Masters SB, Sullivan KA, Miller RT, Beiderman B, Lopez NG, Ramachandran J, Bourne HR. 1988. Carboxyl terminal domain of Gs alpha specifies coupling of receptors to stimulation of adenylyl cyclase. Science 241:448-451.
23. Pantaloni C, Audigier Y. 1993. Functional domains of the Gs alpha subunit: role of the C-terminus in the receptor-dependent and receptor-independent activation. J Recept Res 13:591-608.
24. Rasenick MM, Watanabe M, Lazarevic MB, Hatta S, Hamm HE. 1994. Synthetic peptides as probes for G protein function. Carboxyl-terminal G alpha s peptides mimic Gs and evoke high affinity agonist binding to beta-adrenergic receptors. J Biol Chem 269:21519-21525.
25. Schwindinger WF, Miric A, Zimmerman D, Levine MA. 1994. A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase. J Biol Chem 269:25387-25391.
26. Spiegel AM, Simonds WF, Jones TL, Goldsmith PK, Unson CG. 1990. Antibodies against synthetic peptides as probes of G protein structure and function. Soc Gen Physiol Ser 45:185-195.
27. Sullivan KA, Miller RT, Masters SB, Beiderman B, Heideman W, Bourne HR. 1987. Identification of receptor contact site involved in receptor-G protein coupling. Nature 330:758-760.
28. Sunahara RK, Tesmer JJG, Gilman AG, Sprang SR. 1997. Crystal structure of the adenylyl cyclase activator Gsα. Science 278:1943-1947.
29. Weinstein LS. 1998. Albright hereditary Osteodystrophy, pseudohypoparathyroidism and Gs deficiency. In: Spiegel AM, editor. G proteins, receptors, and desease. Clifton, NJ: Humana Press. p 23-56.
30. Weinstein LS, Chen M, Liu J. 2002. Gs(alpha) mutations and imprinting defects in human disease. Ann N Y Acad Sci 968:173-197.
31. Zhang L, Bastepe M, Jüppner H, Ruan KH. 2006. Characterization of the molecular mechanisms of the coupling between intracellular loops of prostacyclin receptor with the C-terminal domain of the Gαs protein in human coronary artery smooth muscle cells. Arch Biochem Biophys 454:80-88.