{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:27:03Z","timestamp":1791286023012,"version":"4.1.0"},"reference-count":78,"publisher":"The Endocrine Society","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2004,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>GNAS is a complex imprinted gene that uses multiple promoters to generate several gene products, including the G protein \u03b1-subunit (Gs\u03b1) that couples seven-transmembrane receptors to the cAMP-generating enzyme adenylyl cyclase. Somatic activating Gs\u03b1 mutations, which alter key residues required for the GTPase turn-off reaction, are present in various endocrine tumors and fibrous dysplasia of bone, and in a more widespread distribution in patients with McCune- Albright syndrome. Heterozygous inactivating Gs\u03b1 mutations lead to Albright hereditary osteodystrophy. Gs\u03b1 is imprinted in a tissue-specific manner, being primarily expressed from the maternal allele in renal proximal tubules, thyroid, pituitary, and ovary. Maternally inherited mutations lead to Albright hereditary osteodystrophy (AHO) plus PTH, TSH, and gonadotropin resistance (pseudohypoparathyroidism type 1A), whereas paternally inherited mutations lead to AHO alone. Pseudohypoparathyroidism type 1B, in which patients develop PTH resistance without AHO, is almost always associated with a GNAS imprinting defect in which both alleles have a paternal-specific imprinting pattern on both parental alleles. Familial forms of the disease are associated with a mutation within a closely linked gene that deletes a region that is presumably required for establishing the maternal imprint, and therefore maternal inheritance of the mutation results in the GNAS imprinting defect. Imprinting of one differentially methylated region within GNAS is virtually always lost in pseudohypoparathyroidism type 1B, and this region is probably responsible for tissue-specific Gs\u03b1 imprinting. Mouse knockout models show that Gs\u03b1 and the alternative Gs\u03b1 isoform XL\u03b1s that is expressed from the paternal GNAS allele may have opposite effects on energy metabolism in mice.<\/jats:p>","DOI":"10.1210\/en.2004-0865","type":"journal-article","created":{"date-parts":[[2004,8,26]],"date-time":"2004-08-26T20:23:11Z","timestamp":1093551791000},"page":"5459-5464","source":"Crossref","is-referenced-by-count":285,"title":["Minireview: GNAS: Normal and Abnormal Functions"],"prefix":"10.1210","volume":"145","author":[{"given":"Lee S.","family":"Weinstein","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akio","family":"Sakamoto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Xie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071612471762300_R1","first-page":"675","article-title":"Endocrine manifestations of stimulatory G protein \u03b1-subunit mutations and the role of genomic imprinting.","volume":"22","author":"Weinstein","year":"2001","journal-title":"Endocr Rev"},{"key":"2020071612471762300_R2","first-page":"849","author":"Weinstein","year":"2004"},{"key":"2020071612471762300_R3","doi-asserted-by":"crossref","first-page":"11657","DOI":"10.1074\/jbc.272.17.11657","article-title":"Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity.","volume":"272","author":"Ischia","year":"1997","journal-title":"J Biol Chem"},{"key":"2020071612471762300_R4","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1159\/000054535","article-title":"Neuroendocrine secretory protein 55 (NESP55): alternative splicing onto transcripts of the GNAS gene and posttranslational processing of a maternally expressed protein.","volume":"71","author":"Weiss","year":"2000","journal-title":"Neuroendocrinology"},{"key":"2020071612471762300_R5","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1038\/372804a0","article-title":"XL\u03b1s is a new type of G protein.","volume":"372","author":"Kehlenbach","year":"1994","journal-title":"Nature"},{"key":"2020071612471762300_R6","doi-asserted-by":"crossref","first-page":"15475","DOI":"10.1073\/pnas.95.26.15475","article-title":"Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.","volume":"95","author":"Hayward","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"2020071612471762300_R7","doi-asserted-by":"crossref","first-page":"10038","DOI":"10.1073\/pnas.95.17.10038","article-title":"The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.","volume":"95","author":"Hayward","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"2020071612471762300_R8","doi-asserted-by":"crossref","first-page":"3830","DOI":"10.1073\/pnas.96.7.3830","article-title":"A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2.","volume":"96","author":"Peters","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"2020071612471762300_R9","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S0925-4773(00)00490-1","article-title":"The spatial and temporal expression pattern of Nesp and its antisense Nespas, in mid-gestation mouse embryos.","volume":"100","author":"Ball","year":"2001","journal-title":"Mech Dev"},{"key":"2020071612471762300_R10","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0304-3940(99)00091-9","article-title":"The new chromogranin-like protein NESP55 is preferentially localized in adrenaline-synthesizing cells of the bovine and rat adrenal medulla.","volume":"263","author":"Bauer","year":"1999","journal-title":"Neurosci Lett"},{"key":"2020071612471762300_R11","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/S0006-8993(99)01345-1","article-title":"Relative amounts and molecular forms of NESP55 in various bovine tissues.","volume":"829","author":"Lovisetti-Scamiform","year":"1999","journal-title":"Brain Res"},{"key":"2020071612471762300_R12","doi-asserted-by":"crossref","first-page":"33622","DOI":"10.1074\/jbc.M001335200","article-title":"Characterization of the extra-large G protein \u03b1-subunit XL\u03b1s. 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