{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:54:43Z","timestamp":1791287683896,"version":"4.1.0"},"reference-count":33,"publisher":"National Academy of Sciences","issue":"15","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2005,4,12]]},"abstract":"<jats:p>\n                    <jats:italic>Gnas<\/jats:italic>\n                    is a complex gene with multiple imprinted promoters. The upstream\n                    <jats:italic>Nesp<\/jats:italic>\n                    and\n                    <jats:italic>Nespas<\/jats:italic>\n                    \/\n                    <jats:italic>Gnasxl<\/jats:italic>\n                    promoters are paternally and maternally methylated, respectively. The downstream promoter for the stimulatory G protein \u03b1-subunit (G\n                    <jats:sub>s<\/jats:sub>\n                    \u03b1) is unmethylated, although in some tissues (e.g., renal proximal tubules), G\n                    <jats:sub>s<\/jats:sub>\n                    \u03b1 is poorly expressed from the paternal allele. Just upstream of the G\n                    <jats:sub>s<\/jats:sub>\n                    \u03b1 promoter is a primary imprint mark (1A region) where maternal-specific methylation is established during oogenesis. Pseudohypoparathyroidism type 1B, a disorder of renal parathyroid hormone resistance, is associated with loss of 1A methylation. Analysis of embryos of\n                    <jats:italic>Dnmt3L<\/jats:italic>\n                    <jats:sup>\u2013\/\u2013<\/jats:sup>\n                    mothers (which cannot methylate maternal imprint marks) showed that\n                    <jats:italic>Nesp<\/jats:italic>\n                    ,\n                    <jats:italic>Nespas<\/jats:italic>\n                    \/\n                    <jats:italic>Gnasxl<\/jats:italic>\n                    , and 1A imprinting depend on one or more maternal primary imprint marks. We generated mice with deletion of the 1A differentially methylated region. These mice had normal\n                    <jats:italic>Nesp-Nespas<\/jats:italic>\n                    \/\n                    <jats:italic>Gnasxl<\/jats:italic>\n                    imprinting, indicating that the\n                    <jats:italic>Gnas<\/jats:italic>\n                    locus contains two independent imprinting domains (\n                    <jats:italic>Nespas-Nespas<\/jats:italic>\n                    \/\n                    <jats:italic>Gnasxl<\/jats:italic>\n                    and 1A-G\n                    <jats:sub>s<\/jats:sub>\n                    \u03b1) controlled by distinct maternal primary imprint marks. Paternal, but not maternal, 1A deletion resulted in G\n                    <jats:sub>s<\/jats:sub>\n                    \u03b1 overexpression in proximal tubules and evidence for increased parathyroid hormone sensitivity but had no effect on G\n                    <jats:sub>s<\/jats:sub>\n                    \u03b1 expression in other tissues where G\n                    <jats:sub>s<\/jats:sub>\n                    \u03b1 is normally not imprinted. The 1A region is a maternal imprint mark that contains one or more methylation-sensitive cis-acting elements that suppress G\n                    <jats:sub>s<\/jats:sub>\n                    \u03b1 expression from the paternal allele in a tissue-specific manner.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0408262102","type":"journal-article","created":{"date-parts":[[2005,4,6]],"date-time":"2005-04-06T09:32:58Z","timestamp":1112779978000},"page":"5513-5518","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":89,"title":["Identification of the control region for tissue-specific imprinting of the stimulatory G protein \u03b1-subunit"],"prefix":"10.1073","volume":"102","author":[{"given":"Jie","family":"Liu","sequence":"first","affiliation":[{"name":"Metabolic Diseases Branch and Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892; and Department of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY 10032"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Chen","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Branch and Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892; and Department of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY 10032"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuxia","family":"Deng","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Branch and Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892; and Department of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY 10032"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D\u00e9borah","family":"Bourc'his","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Branch and Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892; and Department of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY 10032"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie G.","family":"Nealon","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Branch and Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892; and Department of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY 10032"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beth","family":"Erlichman","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Branch and Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892; and Department of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY 10032"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy H.","family":"Bestor","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Branch and Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892; and Department of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY 10032"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee S.","family":"Weinstein","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Branch and Genetics of Development and Disease Branch, National Institute of Diabetes, Digestive, and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892; and Department of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY 10032"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2005,4,5]]},"reference":[{"key":"e_1_3_1_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/35047554"},{"key":"e_1_3_1_2_2","doi-asserted-by":"publisher","DOI":"10.1210\/edrv.22.5.0439"},{"key":"e_1_3_1_3_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.6022"},{"key":"e_1_3_1_4_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.7.3830"},{"key":"e_1_3_1_5_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.26.15475"},{"key":"e_1_3_1_6_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.16.5808-5817.2000"},{"key":"e_1_3_1_7_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.7.3342"},{"key":"e_1_3_1_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.5.835"},{"key":"e_1_3_1_9_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030393"},{"key":"e_1_3_1_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.15.8715"},{"key":"e_1_3_1_11_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-020183"},{"key":"e_1_3_1_12_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI11892"},{"key":"e_1_3_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(02)00833-1"},{"key":"e_1_3_1_14_2","first-page":"819","volume":"15","year":"2004","unstructured":"Sakamoto, A., Liu, J., Greene, A., Chen, M. & Weinstein, L. S. (2004) Hum. Mol. Genet. 15, 819\u2013828.","journal-title":"Hum. Mol. Genet."},{"key":"e_1_3_1_15_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI10431"},{"key":"e_1_3_1_16_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.7.3667"},{"key":"e_1_3_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81069-7"},{"key":"e_1_3_1_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/gene.1025"},{"key":"e_1_3_1_19_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1065848"},{"key":"e_1_3_1_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(89)80622-2"},{"key":"e_1_3_1_21_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0016672398003528"},{"key":"e_1_3_1_22_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6842"},{"key":"e_1_3_1_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/416539a"},{"key":"e_1_3_1_24_2","first-page":"2","volume":"4","year":"2002","unstructured":"Hayward, B. E., De Vos, M., Judon, H., Hodge, D., Huntriss, J., Picton, H. M., Sheridan, E. & Bonthron, D. T. (2002) BMC Genet. 4, 2.","journal-title":"BMC Genet."},{"key":"e_1_3_1_25_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi009"},{"key":"e_1_3_1_26_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1398"},{"key":"e_1_3_1_27_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI19159"},{"key":"e_1_3_1_28_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.16.5475-5488.2003"},{"key":"e_1_3_1_29_2","first-page":"745","volume":"389","year":"1998","unstructured":"Wutz, A. & Barlow, D. P. (1998) Nature 389, 745\u2013749.","journal-title":"Nature"},{"key":"e_1_3_1_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/35013100"},{"key":"e_1_3_1_31_2","doi-asserted-by":"publisher","DOI":"10.1038\/35013106"},{"key":"e_1_3_1_32_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1065982"},{"key":"e_1_3_1_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(00)00817-4"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.0408262102","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T13:30:14Z","timestamp":1649770214000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.0408262102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,4,5]]},"references-count":33,"journal-issue":{"issue":"15","published-print":{"date-parts":[[2005,4,12]]}},"alternative-id":["10.1073\/pnas.0408262102"],"URL":"https:\/\/doi.org\/10.1073\/pnas.0408262102","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,4,5]]},"assertion":[{"value":"2004-11-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2005-04-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}