GNAS Complex Locus
Reference work entry
First Online:
DOI: https://doi.org/10.1007/978-3-319-67199-4_101631
Synonyms
Historical Background
In 1942, Fuller Albright and his colleagues described a disease characterized by hypocalcemia and hyperphosphatemia, which appeared similar to hypoparathyroidism. However, injection of a parathyroid hormone (PTH) extract did not lead to increased urinary phosphate excretion or normalize serum calcium in the patients. Based on these findings, resistance to the actions of PTH was postulated, and the term pseudohypoparathyroidism (PHP) was coined (Albright et al. 1942). The patients additionally displayed a constellation of phenotypic features including short stature, obesity with round face, brachydactyly, subcutaneous ossifications, and cognitive impairment...
This is a preview of subscription content, log in to check access.
References
- Abramowitz J, Grenet D, Birnbaumer M, Torres HN, Birnbaumer L. XLalphas, the extra-long form of the alpha-subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex. Proc Natl Acad Sci USA. 2004;101(22):8366–71.PubMedPubMedCentralCrossRefGoogle Scholar
- Albright F, Butler AM, Hampton AO, Smith P. Syndrome characterised by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases. N Eng J Med. 1937;216:727–46.CrossRefGoogle Scholar
- Albright F, Burnett CH, Smith PH, Parson W. Pseudo-hypoparathyroidism – an example of ‘Seabright-Bantam syndrome’: report of three cases. Endocrinology. 1942;30:922–32.Google Scholar
- Albright F, Forbes AP, Henneman PH. Pseudo-pseudohypoparathyroidism. Trans Assoc Am Phys. 1952;65:337–50.PubMedGoogle Scholar
- Aldred MA, Trembath RC. Activating and inactivating mutations in the human GNAS1 gene. Hum Mutat. 2000;16(3):183–9.PubMedCrossRefGoogle Scholar
- Ashley PL, Ellison J, Sullivan KA, Bourne HR, Cox DR. Chromosomal assignment of the murine Gi and Gs genes. Am J Hum Genet. 1987;41:A155.Google Scholar
- Aydin C, Aytan N, Mahon MJ, Tawfeek HA, Kowall NW, Dedeoglu A, et al. Extralarge XL(alpha)s (XXL(alpha)s), a variant of stimulatory G protein alpha-subunit (Gs(alpha)), is a distinct, membrane-anchored GNAS product that can mimic Gs(alpha). Endocrinology. 2009;150(8):3567–75.PubMedPubMedCentralCrossRefGoogle Scholar
- Bastepe M, Lane AH, Jüppner H. Paternal uniparental isodisomy of chromosome 20q – and the resulting changes in GNAS1 methylation – as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet. 2001;68(5):1283–9.PubMedPubMedCentralCrossRefGoogle Scholar
- Bastepe M, Gunes Y, Perez-Villamil B, Hunzelman J, Weinstein LS, Jüppner H. Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit. Mol Endocrinol. 2002;16(8):1912–9.PubMedCrossRefGoogle Scholar
- Bastepe MFL, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Körkkö J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Jüppner H. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest. 2003;12(8):1255–63.CrossRefGoogle Scholar
- Bastepe MFL, Linglart A, Abu-Zah-ra HS, Tojo K, Ward LM, Jüppner H. Deletion of the NESP55 differentially methylated re- gion causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet. 2005;37:25–7.PubMedCrossRefGoogle Scholar
- Bauer RWC, Marksteiner J, Doblinger A, Fischer-Colbrie R, Laslop A. The new chromogranin-like protein NESP55 is preferentially localized in adrenaline-synthesizing cells of the bovine and rat adrenal medulla. Neurosci Lett. 1999;263(1):13–6.PubMedCrossRefGoogle Scholar
- Bourne HR, Sanders DA, McCormick F. The GTPase superfamily: conserved structure and molecular mechanism. Nature. 1991;349(6305):117–27.PubMedCrossRefGoogle Scholar
- Cabrera-Vera TM, Vanhauwe J, Thomas TO, Medkova M, Preininger A, Mazzoni MR, et al. Insights into G protein structure, function, and regulation. Endocr Rev. 2003;24(6):765–81.PubMedCrossRefGoogle Scholar
- Cairns DM, Pignolo RJ, Uchimura T, Brennan TA, Lindborg CM, Xu M, et al. Somitic disruption of GNAS in chick embryos mimics progressive osseous heteroplasia. J Clin Invest. 2013;123(8):3624–33.PubMedPubMedCentralCrossRefGoogle Scholar
- Campbell R, Gosden CM, Bonthron DT. Parental origin of transcription from the human GNAS1 gene. J Med Genet. 1994;31(8):607–14.PubMedPubMedCentralCrossRefGoogle Scholar
- Chase LR, Aurbach GD. Renal adenyl cyclase: anatomically separate sites for parathyroid hormone and vasopressin. Science. 1968;159(3814):545–7.PubMedCrossRefGoogle Scholar
- Chase LR, Melson GL, Aurbach GD. Pseudohypoparathyroidism: defective excretion of 3′,5′-AMP in response to parathyroid hormone. J Clin Invest. 1969;48(10):1832–44.PubMedPubMedCentralCrossRefGoogle Scholar
- Chen M, Gavrilova O, Liu J, Xie T, Deng C, Nguyen AT, et al. Alternative Gnas gene products have opposite effects on glucose and lipid metabolism. Proc Natl Acad Sci USA. 2005;102(20):7386–91.PubMedPubMedCentralCrossRefGoogle Scholar
- Chillambhi S, Turan S, Hwang DY, Chen HC, Jüppner H, Bastepe M. Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis. J Clin Endocrinol Metab. 2010;95(8):3993–4002.PubMedPubMedCentralCrossRefGoogle Scholar
- Chotalia M, Smallwood SA, Ruf N, Dawson C, Lucifero D, Frontera M, et al. Transcription is required for establishment of germline methylation marks at imprinted genes. Genes Dev. 2009;23(1):105–17.PubMedPubMedCentralCrossRefGoogle Scholar
- Coombes C, Arnaud P, Gordon E, Dean W, Coar EA, Williamson CM, et al. Epigenetic properties and identification of an imprint mark in the Nesp-Gnasxl domain of the mouse Gnas imprinted locus. Mol Cell Biol. 2003;23(16):5475–88.PubMedPubMedCentralCrossRefGoogle Scholar
- Crawford JA, Mutchler KJ, Sullivan BE, Lanigan TM, Clark MS, Russo AF. Neural expression of a novel alternatively spliced and polyadenylated Gs alpha transcript. J Biol Chem. 1993;268(13):9879–85.PubMedGoogle Scholar
- Davies SJ, Hughes HE. Imprinting in Albright’s hereditary osteodystrophy. J Med Genet. 1993;30(2):101–3.PubMedPubMedCentralCrossRefGoogle Scholar
- Drezner M, Neelon FA, Lebovitz HE. Pseudohypoparathyroidism type II: a possible defect in the reception of the cyclic AMP signal. N Engl J Med. 1973;289(20):1056–60.PubMedCrossRefGoogle Scholar
- Eaton SA, Williamson CM, Ball ST, Beechey CV, Moir L, Edwards J, et al. New mutations at the imprinted Gnas cluster show gene dosage effects of Gsalpha in postnatal growth and implicate XLalphas in bone and fat metabolism but not in suckling. Mol Cell Biol. 2012;32(5):1017–29.PubMedPubMedCentralCrossRefGoogle Scholar
- Elli FM, de Santis L, Peverelli E. Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR. J Clin Endocrinol Metab. 2014;99:E724–8.PubMedCrossRefGoogle Scholar
- Frame B, Hanson CA, Frost HM, Block M, Arnstein AR. Renal resistance to parathyroid hormone with osteitis fibrosa: “pseudohypohyperparathyroidism”. Am J Med. 1972;52(3):311–21.PubMedCrossRefGoogle Scholar
- Freson K, Jaeken J, Van Helvoirt M, de Zegher F, Wittevrongel C, Thys C, et al. Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation. Hum Mol Genet. 2003;12(10):1121–30.PubMedCrossRefGoogle Scholar
- Gejman PV, Weinstein LS, Martinez M, Spiegel AM, Cao Q, Hsieh WT, Hoehe MR, Gershon ES. Genetic mapping of the Gs-alpha subunit gene (GNAS1) to the distal long arm of chromosome 20 using a polymorphism detected by denaturing gradient gel electrophoresis. Genomics. 1991;9:782–3.PubMedCrossRefGoogle Scholar
- Germain-Lee EL, Schwindinger W, Crane JL, Zewdu R, Zweifel LS, Wand G, et al. A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene. Endocrinology. 2005;146(11):4697–709.PubMedCrossRefGoogle Scholar
- Gopal Rao VVN, Schnittger S, Hansmann I. G protein Gs-alpha (GNAS1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2. Genomics. 1991;10:257–61.CrossRefGoogle Scholar
- Happle R. The McCune-Albright syndrome: a lethal gene surviving by mosaicism. Clin Genet. 1986;29(4):321–4.PubMedCrossRefGoogle Scholar
- Hayward BE, Bonthron DT. An imprinted antisense transcript at the human GNAS1 locus. Hum Mol Genet. 2000;9(5):835–41.PubMedCrossRefGoogle Scholar
- Hayward BE, Kamiya M, Strain L, Moran V, Campbell R, Hayashizaki Y, et al. The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc Natl Acad Sci USA. 1998a;95(17):10038–43.PubMedPubMedCentralCrossRefGoogle Scholar
- Hayward BE, Moran V, Strain L, Bonthron DT. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci USA. 1998b;95(26):15475–80.PubMedPubMedCentralCrossRefGoogle Scholar
- Hayward BE, Barlier A, Korbonits M, Grossman AB, Jacquet P, Enjalbert A, et al. Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest. 2001;107(6):R31–6.PubMedPubMedCentralCrossRefGoogle Scholar
- He Q, Zhu Y, Corbin BA, Plagge A, Bastepe M. The G protein alpha subunit variant XLalphas promotes inositol 1,4,5-trisphosphate signaling and mediates the renal actions of parathyroid hormone in vivo. Sci Signal. 2015;8(391):ra84.PubMedPubMedCentralCrossRefGoogle Scholar
- Iiri THP, Nakamoto JM, van Dop C, Bourne HR. Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function. Nature. 1994;371(6493):164–8.PubMedCrossRefGoogle Scholar
- Ishikawa Y, Bianchi C, Nadal-Ginard B, Homcy CJ. Alternative promoter and 5′ exon generate a novel Gs alpha mRNA. J Biol Chem. 1990;265(15):8458–62.PubMedGoogle Scholar
- Linglart ABM, Jüppner H. Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epi-genetic changes at the GNAS locus. Clin Endocrinol. 2007;67(6):822–31.CrossRefGoogle Scholar
- Kaplan FS, Shore EM. Progressive osseous heteroplasia. J Bone Miner Res Off J Am Soc Bone Miner Res. 2000;15(11):2084–94.CrossRefGoogle Scholar
- Kehlenbach RHMJ, Huttner WB. XL alpha s is a new type of G protein. Nature. 1994;372(6508):804–9.PubMedCrossRefGoogle Scholar
- Kim SJGD, Hanna GL, Leventhal BL, Cook Jr EH. Deletion polymorphism in the coding region of the human NESP55 alternative transcript of GNAS1. Mol Cell Probes. 2000;14(4):191–4.PubMedCrossRefGoogle Scholar
- Klemke M, Pasolli HA, Kehlenbach RH, Offermanns S, Schultz G, Huttner WB. Characterization of the extra-large G protein alpha-subunit XLalphas. II. Signal transduction properties. J Biol Chem. 2000;275(43):33633–40.PubMedCrossRefGoogle Scholar
- Klemke M, Kehlenbach RH, Huttner WB. Two overlapping reading frames in a single exon encode interacting proteins – a novel way of gene usage. EMBO J. 2001;20(14):3849–60.PubMedPubMedCentralCrossRefGoogle Scholar
- Kozasa T, Itoh H, Tsukamoto T, Kaziro Y. Isolation and characterization of the human Gs alpha gene. Proc Natl Acad Sci USA. 1988;85(7):2081–5.PubMedPubMedCentralCrossRefGoogle Scholar
- Krechowec SO, Burton KL, Newlaczyl AU, Nunn N, Vlatkovic N, Plagge A. Postnatal changes in the expression pattern of the imprinted signalling protein XLalphas underlie the changing phenotype of deficient mice. PLoS One. 2012;7(1):e29753.PubMedPubMedCentralCrossRefGoogle Scholar
- Landis CA, Masters SB, Spada A, Pace AM, Bourne HR, Vallar L. GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature. 1989;340(6236):692–6.PubMedCrossRefGoogle Scholar
- Landis CA, Harsh G, Lyons J, Davis RL, McCormick F, Bourne HR. Clinical characteristics of acromegalic patients whose pituitary tumors contain mutant Gs protein. J Clin Endocrinol Metab. 1990;71(6):1416–20.PubMedCrossRefGoogle Scholar
- Levine MA, Jap TS, Mauseth RS, Downs RW, Spiegel AM. Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright’s hereditary osteodystrophy in six kindreds. J Clin Endocrinol Metab. 1986;62(3):497–502.PubMedCrossRefGoogle Scholar
- Levine MA, Ahn TG, Klupt SF, Kaufman KD, Smallwood PM, Bourne HR, et al. 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. 1988;85(2):617–21.PubMedPubMedCentralCrossRefGoogle Scholar
- Levine MA, Modi WS, O’Brien SJ. Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2-q13.3 in human by in situ hybridization. Genomics. 1991;11:478–9.PubMedCrossRefGoogle Scholar
- Linglart A, Gensure RC, Olney RC, Jüppner H, Bastepe M. A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. Am J Hum Genet. 2005;76(5):804–14.PubMedPubMedCentralCrossRefGoogle Scholar
- Linglart A, Mahon MJ, Kerachian MA, Berlach DM, Hendy GN, Jüppner H, et al. Coding GNAS mutations leading to hormone resistance impair in vitro agonist- and cholera toxin-induced adenosine cyclic 3′,5′-monophosphate formation mediated by human XLalphas. Endocrinology. 2006;147(5):2253–62.PubMedCrossRefGoogle Scholar
- Liu JNJ, Weinstein LS. Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Hum Mol Genet. 2005;14:95–102.PubMedCrossRefGoogle Scholar
- Liu J, Litman D, Rosenberg MJ, Yu S, Biesecker LG, Weinstein LS. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest. 2000;106(9):1167–74.PubMedPubMedCentralCrossRefGoogle Scholar
- Liu Z, Turan S, Wehbi VL, Vilardaga JP, Bastepe M. Extra-long Galphas variant XLalphas protein escapes activation-induced subcellular redistribution and is able to provide sustained signaling. J Biol Chem. 2011a;286(44):38558–69.PubMedPubMedCentralCrossRefGoogle Scholar
- Liu Z, Segawa H, Aydin C, Reyes M, Erben RG, Weinstein LS, et al. Transgenic overexpression of the extra-large Gsalpha variant XLalphas enhances Gsalpha-mediated responses in the mouse renal proximal tubule in vivo. Endocrinology. 2011b;152(4):1222–33.PubMedPubMedCentralCrossRefGoogle Scholar
- Lumbroso S, Paris F, Sultan C, European CS. Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome – a European Collaborative Study. J Clin Endocrinol Metab. 2004;89(5):2107–13.PubMedCrossRefGoogle Scholar
- Lyons J, Landis CA, Harsh G, Vallar L, Grunewald K, Feichtinger H, et al. Two G protein oncogenes in human endocrine tumors. Science. 1990;249(4969):655–9.PubMedCrossRefGoogle Scholar
- Makita N, Sato J, Rondard P, Fukamachi H, Yuasa Y, Aldred MA, Hashimoto M, Fujita T, Iiri T. Human G(S-alpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle. Proc Natl Acad Sci. 2007;104:17424–9.PubMedPubMedCentralCrossRefGoogle Scholar
- Mantovani G, Ballare E, Giammona E, Beck-Peccoz P, Spada A. The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab. 2002;87(10):4736–40.PubMedCrossRefGoogle Scholar
- Mariot V, Wu JY, Aydin C, Mantovani G, Mahon MJ, Linglart A, et al. Potent constitutive cyclic AMP-generating activity of XLalphas implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone. Bone. 2011;48(2):312–20.PubMedCrossRefGoogle Scholar
- McCune DJ, Bruch H. Progress in pediatrics: osteodystrophia fibrosa. Am J Dis Child. 1937;54:806–48.CrossRefGoogle Scholar
- Michienzi S, Cherman N, Holmbeck K, Funari A, Collins MT, Bianco P, et al. GNAS transcripts in skeletal progenitors: evidence for random asymmetric allelic expression of Gs alpha. Hum Mol Genet. 2007;16(16):1921–30.PubMedCrossRefGoogle Scholar
- Nakamoto JM, Zimmerman D, Jones EA, Loke KY, Siddiq K, Donlan MA, et al. Concurrent hormone resistance (pseudohypoparathyroidism type Ia) and hormone independence (testotoxicosis) caused by a unique mutation in the G alpha s gene. Biochem Mol Med. 1996;58(1):18–24.PubMedCrossRefGoogle Scholar
- Northup JK, Sternweis PC, Smigel MD, Schleifer LS, Ross EM, Gilman AG. Purification of the regulatory component of adenylate cyclase. Proc Natl Acad Sci USA. 1980;77(11):6516–20.PubMedPubMedCentralCrossRefGoogle Scholar
- Novotny J, Svoboda P. The long (Gs(alpha)-L) and short (Gs(alpha)-S) variants of the stimulatory guanine nucleotide-binding protein. Do they behave in an identical way? J Mol Endocrinol. 1998;20(2):163–73.PubMedCrossRefGoogle Scholar
- Pasolli HA, Huttner WB. Expression of the extra-large G protein alpha-subunit XLalphas in neuroepithelial cells and young neurons during development of the rat nervous system. Neurosci Lett. 2001;301(2):119–22.PubMedCrossRefGoogle Scholar
- Pasolli HA, Klemke M, Kehlenbach RH, Wang Y, Huttner WB. Characterization of the extra-large G protein alpha-subunit XLalphas. I. Tissue distribution and subcellular localization. J Biol Chem. 2000;275(43):33622–32.PubMedCrossRefGoogle Scholar
- Patten JL, Levine MA. Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright’s hereditary osteodystrophy. J Clin Endocrinol Metab. 1990;71(5):1208–14.PubMedCrossRefGoogle Scholar
- Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G, et al. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright’s hereditary osteodystrophy. N Engl J Med. 1990;322(20):1412–9.PubMedCrossRefGoogle Scholar
- Plagge A, Gordon E, Dean W, Boiani R, Cinti S, Peters J, et al. The imprinted signaling protein XL alpha s is required for postnatal adaptation to feeding. Nat Genet. 2004;36(8):818–26.PubMedCrossRefGoogle Scholar
- Plagge A, Isles AR, Gordon E, Humby T, Dean W, Gritsch S, et al. Imprinted Nesp55 influences behavioral reactivity to novel environments. Mol Cell Biol. 2005;25(8):3019–26.PubMedPubMedCentralCrossRefGoogle Scholar
- Pohl SL, Birnbaumer L, Rodbell M. The glucagon-sensitive adenyl cyclase system in plasma membranes of rat liver. I. Properties. J Biol Chem. 1971;246(6):1849–56.PubMedGoogle Scholar
- Puzhko SGC, Kerachian MA, Canaff L, Misra M, Jüppner H, Bastepe M, Hendy GN. Parathyroid hormone signaling via Gαs is selectively inhibited by an NH(2)-terminally truncated Gαs: implications for pseudohypoparathyroidism. J Bone Miner Res Off J Am Soc Bone Miner Res. 2011;26(10):2473–85.CrossRefGoogle Scholar
- Richard N, Abeguile G, Coudray N, Mittre H, Gruchy N, Andrieux J, Cathebras P, Kottler ML. A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab. 2012;97:E863–7.CrossRefGoogle Scholar
- Rodbell M, Krans HM, Pohl SL, Birnbaumer L. The glucagon-sensitive adenyl cyclase system in plasma membranes of rat liver. 3. Binding of glucagon: method of assay and specificity. J Biol Chem. 1971;246(6):1861–71.PubMedGoogle Scholar
- Sakamoto A, Liu J, Greene A, Chen M, Weinstein LS. Tissue-specific imprinting of the G protein Gsalpha is associated with tissue-specific differences in histone methylation. Hum Mol Genet. 2004;13(8):819–28.PubMedCrossRefGoogle Scholar
- Shore EM, Ahn J, Jan de Beur S, Li M, Xu M, Gardiner RJM, Zasloff MA, Whyte MP, Levine MA, Kaplan FS. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Eng J Med. 2002;346:99–106.CrossRefGoogle Scholar
- Sparkes RS, Cohn VH, Mohandas T, Zollman S, Cire-Eversole P, Amatruda TT, Reed RR, Lochrie MA, Simon MI. Mapping of genes encoding the subunits of guanine nucleotide-binding protein (G-proteins) in humans. Cytogenet Cell Genet. 1987;46:696.Google Scholar
- Sternweis PC, Northup JK, Smigel MD, Gilman AG. The regulatory component of adenylate cyclase. Purification and properties. J Biol Chem. 1981;256(22):11517–26.PubMedGoogle Scholar
- Swaroop A, Agarwal N, Gruen JR, Bick D, Weissman SM. Differential expression of novel Gs alpha signal transduction protein cDNA species. Nucleic Acids Res. 1991;19(17):4725–9.PubMedPubMedCentralCrossRefGoogle Scholar
- Syrovatkina V, Alegre KO, Dey R, Huang XY. Regulation, signaling, and physiological functions of G-proteins. J Mol Biol. 2016;428(19):3850–68.PubMedPubMedCentralCrossRefGoogle Scholar
- Turan S, Bastepe M. GNAS spectrum of disorders. Curr Osteoporos Rep. 2015;13(3):146–58.PubMedPubMedCentralCrossRefGoogle Scholar
- Walseth TF, Zhang HJ, Olson LK, Schroeder WA, Robertson RP. Increase in Gs and cyclic AMP generation in HIT cells. Evidence that the 45-kDa alpha-subunit of Gs has greater functional activity than the 52-kDa alpha-subunit. J Biol Chem. 1989;264(35):21106–11.PubMedGoogle Scholar
- Weinstein LS, Gejman PV, Friedman E, Kadowaki T, Collins RM, Gershon ES, et al. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA. 1990;87(21):8287–90.PubMedPubMedCentralCrossRefGoogle Scholar
- Weinstein LS, Yu S, Warner DR, Liu J. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev. 2001;22(5):675–705.PubMedGoogle Scholar
- Weinstein LS, Liu J, Sakamoto A, Xie T, Chen M. Minireview: GNAS: normal and abnormal functions. Endocrinology. 2004;145(12):5459–64.PubMedCrossRefGoogle Scholar
- Weiss UIR, Eder S, Lovisetti-Scamihorn P, Bauer R, Fischer-Colbrie R. Neuroendocrine secretory protein 55 (NESP55): alternative splicing onto transcripts of the GNAS gene and posttranslational processing of a maternally expressed protein. Neuroendocrinology. 2000;71(3):177–86.PubMedCrossRefGoogle Scholar
- Williamson CM, Ball ST, Nottingham WT, Skinner JA, Plagge A, Turner MD, et al. A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas. Nat Genet. 2004;36(8):894–9.PubMedCrossRefGoogle Scholar
- Williamson CM, Turner MD, Ball ST, Nottingham WT, Glenister P, Fray M, et al. Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster. Nat Genet. 2006;38(3):350–5.PubMedCrossRefGoogle Scholar
- Williamson CM, Ball ST, Dawson C, Mehta S, Beechey CV, Fray M, et al. Uncoupling antisense-mediated silencing and DNA methylation in the imprinted Gnas cluster. PLoS Genet. 2011;7(3):e1001347.PubMedPubMedCentralCrossRefGoogle Scholar
- Wroe SFKG, Skinner JA, Bodle D, Ball ST, Beechey CV, Peters J, Williamson CM. An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus. Proc Natl Acad Sci USA. 2000;97(7):3342–6.PubMedPubMedCentralCrossRefGoogle Scholar
- Yang I, Park S, Ryu M, Woo J, Kim S, Kim J, et al. Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients. Eur J Endocrinol. 1996;134(6):720–6.PubMedCrossRefGoogle Scholar
- Yu S, Yu D, Lee E, Eckhaus M, Lee R, Corria Z, et al. Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene. Proc Natl Acad Sci USA. 1998;95(15):8715–20.PubMedPubMedCentralCrossRefGoogle Scholar
Copyright information
© Springer International Publishing AG 2018