{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T09:12:18Z","timestamp":1791364338444,"version":"4.3.1"},"reference-count":45,"publisher":"National Academy of Sciences","issue":"22","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2015,6,2]]},"abstract":"<jats:p>Clusters of imprinted genes are often controlled by an imprinting center that is necessary for allele-specific gene expression and to reprogram parent-of-origin information between generations. An imprinted domain at 15q11\u2013q13 is responsible for both Angelman syndrome (AS) and Prader\u2013Willi syndrome (PWS), two clinically distinct neurodevelopmental disorders. Angelman syndrome arises from the lack of maternal contribution from the locus, whereas Prader\u2013Willi syndrome results from the absence of paternally expressed genes. In some rare cases of PWS and AS, small deletions may lead to incorrect parent-of-origin allele identity. DNA sequences common to these deletions define a bipartite imprinting center for the AS\u2013PWS locus. The PWS\u2013smallest region of deletion overlap (SRO) element of the imprinting center activates expression of genes from the paternal allele. The AS\u2013SRO element generates maternal allele identity by epigenetically inactivating the PWS\u2013SRO in oocytes so that paternal genes are silenced on the future maternal allele. Here we have investigated functional activities of the AS\u2013SRO, the element necessary for maternal allele identity. We find that, in humans, the AS\u2013SRO is an oocyte-specific promoter that generates transcripts that transit the PWS\u2013SRO. Similar upstream promoters were detected in bovine oocytes. This result is consistent with a model in which imprinting centers become DNA methylated and acquire maternal allele identity in oocytes in response to transiting transcription.<\/jats:p>","DOI":"10.1073\/pnas.1411261111","type":"journal-article","created":{"date-parts":[[2014,11,7]],"date-time":"2014-11-07T03:42:58Z","timestamp":1415331778000},"page":"6871-6875","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":37,"title":["Angelman syndrome imprinting center encodes a transcriptional promoter"],"prefix":"10.1073","volume":"112","author":[{"given":"Michael W.","family":"Lewis","sequence":"first","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, FL 32610-0266;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason O.","family":"Brant","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, FL 32610-0245;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph M.","family":"Kramer","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University of Florida College of Medicine, Gainesville, FL 32610-0294; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James I.","family":"Moss","sequence":"additional","affiliation":[{"name":"Department of Animal Sciences, University of Florida, Gainesville, FL 32611-0910"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas P.","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, University of Florida College of Medicine, Gainesville, FL 32610-0245;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J.","family":"Hansen","sequence":"additional","affiliation":[{"name":"Department of Animal Sciences, University of Florida, Gainesville, FL 32611-0910"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Stan","family":"Williams","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University of Florida College of Medicine, Gainesville, FL 32610-0294; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James L.","family":"Resnick","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, FL 32610-0266;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2014,11,5]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-70"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-74"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e31822bead0"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2776"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32364"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/302233"},{"key":"e_1_3_3_7_2","first-page":"665","article-title":"A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp","volume":"105","author":"Buiting K","year":"1999","unstructured":"K Buiting, C Lich, S Cottrell, A Barnicoat, B Horsthemke, A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. 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