{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T04:58:34Z","timestamp":1789534714790,"version":"build-2803163510"},"reference-count":47,"publisher":"The Endocrine Society","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2003,9,1]]},"abstract":"<jats:p>The stimulatory G protein \u03b1-subunit Gs\u03b1 couples receptors to adenylyl cyclase and is required for hormone-stimulated cAMP generation. In Albright hereditary osteodystrophy, heterozygous Gs\u03b1 null mutations only lead to PTH, TSH, and gonadotropin resistance when inherited maternally [pseudohypoparathyroidism type 1A; (PHP1A)]. Maternal-specific expression of Gs\u03b1 in specific hormone targets could explain this observation. Using hot-stop PCR analysis on total RNA from six normal human thyroid specimens, we showed that the majority of the Gs\u03b1 mRNA (72 \u00b1 3%) was derived from the maternal allele. This is consistent with the presence of TSH resistance in patients with maternal Gs\u03b1 null mutations (PHP1A) and the absence of TSH resistance in patients with paternal Gs\u03b1 mutations (pseudopseudohypoparathyroidism). Patients with PTH resistance in the absence of Albright hereditary osteodystrophy (PHP1B) have an imprinting defect of the Gs\u03b1 gene resulting in both alleles having a paternal epigenotype, which would lead to a more moderate level of thyroid-specific Gs\u03b1 deficiency. We found evidence of borderline TSH resistance in 10 of 22 PHP1B patients. This study provides further evidence for tissue-specific imprinting of Gs\u03b1 in humans and provides a potential mechanism for mild to moderate TSH resistance in PHP1A and borderline resistance in some patients with PHP1B.<\/jats:p>","DOI":"10.1210\/jc.2003-030393","type":"journal-article","created":{"date-parts":[[2003,9,12]],"date-time":"2003-09-12T01:04:09Z","timestamp":1063328649000},"page":"4336-4341","source":"Crossref","is-referenced-by-count":163,"title":["The Stimulatory G Protein \u03b1-Subunit Gs\u03b1 Is Imprinted in Human Thyroid Glands: Implications for Thyroid Function in Pseudohypoparathyroidism Types 1A and 1B"],"prefix":"10.1210","volume":"88","author":[{"given":"Jie","family":"Liu","sequence":"first","affiliation":[{"name":"Metabolic Diseases Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth","family":"Erlichman","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee S.","family":"Weinstein","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071617572096600_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":"2020071617572096600_R2","first-page":"4205","article-title":"Pseudohypoparathyroidism","author":"Spiegel","year":"2001","journal-title":"In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. 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