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Mutations in the binding sites of several transcription factors are involved in <jats:italic>H19<\/jats:italic>-ICR GOM and BWS. However, the responsible sequence(s) for <jats:italic>H19<\/jats:italic>-ICR GOM with BWS-like overgrowth has not been identified in mice. Here, we report that a mutation in the SOX-OCT binding site (SOBS) causes partial <jats:italic>H19<\/jats:italic>-ICR GOM, which does not extend beyond CTCF binding site 3 (CTS3). Moreover, simultaneously mutating both SOBS and CTS3 causes complete GOM of the entire <jats:italic>H19<\/jats:italic>-ICR, leading to the misexpression of the imprinted genes, and frequent BWS-like overgrowth. In addition, CTS3 is critical for CTCF\/cohesin-mediated chromatin conformation. These results indicate that SOBS and CTS3 are the sequences in which mutations cause <jats:italic>H19<\/jats:italic>-ICR GOM leading to BWS-like overgrowth and are essential for maintaining the unmethylated state of maternal <jats:italic>H19<\/jats:italic>-ICR.<\/jats:p>","DOI":"10.1038\/s42003-024-07323-x","type":"journal-article","created":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T21:37:12Z","timestamp":1733175432000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Identification of responsible sequences which mutations cause maternal H19-ICR hypermethylation with Beckwith\u2013Wiedemann syndrome-like overgrowth"],"prefix":"10.1038","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-7499-4773","authenticated-orcid":false,"given":"Satoshi","family":"Hara","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumikazu","family":"Matsuhisa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuji","family":"Kitajima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitomi","family":"Yatsuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Musashi","family":"Kubiura-Ichimaru","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Higashimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5076-6563","authenticated-orcid":false,"given":"Hidenobu","family":"Soejima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,12,2]]},"reference":[{"key":"7323_CR1","doi-asserted-by":"publisher","first-page":"952","DOI":"10.1016\/j.cell.2019.01.043","volume":"176","author":"V Tucci","year":"2019","unstructured":"Tucci, V., Isles, A. 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