{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:54:31Z","timestamp":1791287671375,"version":"4.1.0"},"reference-count":76,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2013,8,17]],"date-time":"2013-08-17T00:00:00Z","timestamp":1376697600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,3,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>\u2003<\/jats:title>\n                  <jats:p>Pseudohypoparathyroidism type-Ia (PHP-Ia), characterized by renal proximal tubular resistance to parathyroid hormone (PTH), results from maternal mutations of GNAS that lead to loss of \u03b1-subunit of the stimulatory G protein (G\u03b1s) activity. G\u03b1s expression is paternally silenced in the renal proximal tubule, and this genomic event is critical for the development of PTH resistance, as patients display impaired hormone action only if the mutation is inherited maternally. The primary clinical finding of PHP-Ia is hypocalcemia, which can lead to various neuromuscular defects including seizures. PHP-Ia patients frequently do not present with hypocalcemia until after infancy, but it has remained uncertain whether PTH resistance occurs in a delayed fashion. Analyzing reported cases of PHP-Ia with documented GNAS mutations and mice heterozygous for disruption of Gnas, we herein determined that the manifestation of PTH resistance caused by the maternal loss of G\u03b1s, ie, hypocalcemia and elevated serum PTH, occurs after early postnatal life. To investigate whether this delay could reflect gradual development of paternal G\u03b1s silencing, we then analyzed renal proximal tubules isolated by laser capture microdissection from mice with either maternal or paternal disruption of Gnas. Our results revealed that, whereas expression of G\u03b1s mRNA in this tissue is predominantly from the maternal Gnas allele at weaning (3 weeks postnatal) and in adulthood, the contributions of the maternal and paternal Gnas alleles to G\u03b1s mRNA expression are equal at postnatal day 3. In contrast, we found that paternal G\u03b1s expression is already markedly repressed in brown adipose tissue at birth. Thus, the mechanisms silencing the paternal G\u03b1s allele in renal proximal tubules are not operational during early postnatal development, and this finding correlates well with the latency of PTH resistance in patients with PHP-Ia. \u00a9 2014 American Society for Bone and Mineral Research.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1002\/jbmr.2070","type":"journal-article","created":{"date-parts":[[2013,8,17]],"date-time":"2013-08-17T05:12:58Z","timestamp":1376716378000},"page":"749-760","source":"Crossref","is-referenced-by-count":71,"title":["Postnatal Establishment of Allelic G\u03b1s Silencing as a Plausible Explanation for Delayed Onset of Parathyroid Hormone Resistance Owing to Heterozygous G\u03b1s Disruption"],"prefix":"10.1093","volume":"29","author":[{"given":"Serap","family":"Turan","sequence":"first","affiliation":[{"name":"Pediatric EndocrinologyMarmara University School of Medicine HospitalIstanbulTurkey"},{"name":"Endocrine UnitDepartment of MedicineMassachusetts General Hospital and Harvard Medical SchoolBostonMAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Fernandez-Rebollo","sequence":"additional","affiliation":[{"name":"Diabetes and Obesity LaboratoryEndocrinology and Nutrition UnitInstitut d'Investigations Biomediques August Pi i Sunyer (IDIBAPS)Hospital Clinic de BarcelonaBarcelonaSpain"},{"name":"Endocrine UnitDepartment of MedicineMassachusetts General Hospital and Harvard Medical SchoolBostonMAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cumhur","family":"Aydin","sequence":"additional","affiliation":[{"name":"Department of EndodonticsCenter for Dental SciencesGulhane School of MedicineAnkaraTurkey"},{"name":"Endocrine UnitDepartment of MedicineMassachusetts General Hospital and Harvard Medical SchoolBostonMAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teuta","family":"Zoto","sequence":"additional","affiliation":[{"name":"Endocrine UnitDepartment of MedicineMassachusetts General Hospital and Harvard Medical SchoolBostonMAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Reyes","sequence":"additional","affiliation":[{"name":"Endocrine UnitDepartment of MedicineMassachusetts General Hospital and Harvard Medical SchoolBostonMAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Bounoutas","sequence":"additional","affiliation":[{"name":"Endocrine UnitDepartment of MedicineMassachusetts General Hospital and Harvard Medical SchoolBostonMAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Chen","sequence":"additional","affiliation":[{"name":"Metabolic Diseases BranchNational Institute of Diabetes, and Digestive and Kidney DiseasesNational Institutes of HealthBethesdaMDUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee S","family":"Weinstein","sequence":"additional","affiliation":[{"name":"Metabolic Diseases BranchNational Institute of Diabetes, and Digestive and Kidney DiseasesNational Institutes of HealthBethesdaMDUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reinhold G","family":"Erben","sequence":"additional","affiliation":[{"name":"Department of Biomedical SciencesUniversity of Veterinary MedicineViennaAustria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir","family":"Marshansky","sequence":"additional","affiliation":[{"name":"Center for Systems BiologyProgram in Membrane Biology and Division of NephrologyMassachusetts General Hospital and Harvard Medical SchoolBostonMAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Bastepe","sequence":"additional","affiliation":[{"name":"Endocrine UnitDepartment of MedicineMassachusetts General Hospital and Harvard Medical SchoolBostonMAUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,8,17]]},"reference":[{"issue":"1","key":"2024020318554980200_jbmr2070-bib-0001","first-page":"187","article-title":"Genomic imprinting and human disease","volume":"48","author":"Hirasawa","year":"2011","journal-title":"Essays Biochem."},{"key":"2024020318554980200_jbmr2070-bib-0002","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1146\/annurev-genet-110410-132459","article-title":"Genomic imprinting: a mammalian epigenetic discovery model","volume":"45","author":"Barlow","year":"2011","journal-title":"Annu Rev Genet."},{"key":"2024020318554980200_jbmr2070-bib-0003","doi-asserted-by":"crossref","first-page":"2081","DOI":"10.1073\/pnas.85.7.2081","article-title":"Isolation and characterization of the human Gsa gene","volume":"85","author":"Kozasa","year":"1988","journal-title":"Proc Natl Acad Sci USA."},{"issue":"12","key":"2024020318554980200_jbmr2070-bib-0004","doi-asserted-by":"crossref","first-page":"5459","DOI":"10.1210\/en.2004-0865","article-title":"Minireview: GNAS: normal and abnormal functions","volume":"145","author":"Weinstein","year":"2004","journal-title":"Endocrinology."},{"key":"2024020318554980200_jbmr2070-bib-0005","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":"2024020318554980200_jbmr2070-bib-0006","doi-asserted-by":"crossref","first-page":"5808","DOI":"10.1128\/MCB.20.16.5808-5817.2000","article-title":"Identification of a methylation imprint mark within the mouse gnas locus","volume":"20","author":"Liu","year":"2000","journal-title":"Mol Cell 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