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Clinical studies have associated CTCF mutations with congenital developmental abnormalities, including congenital cardiomyopathy. In this study, we investigated the impact of the homozygous CTCF\u2010R567W (<jats:italic>Ctcf<\/jats:italic>\n<jats:sup>\n<jats:italic>R567W\/R567W<\/jats:italic>\n<\/jats:sup>) mutation on cardiac tissue morphogenesis during mouse embryonic development. Our results reveal significant impairments in heart development, characterised by ventricular muscle trabecular hyperplasia and reduced ventricular cavity sizes. We also observe a marked downregulation of genes involved in sarcomere assembly, calcium ion transport, and mitochondrial function in heart tissues from homozygous mice. Furthermore, the <jats:italic>Ctcf<\/jats:italic>\n<jats:sup>\n<jats:italic>R567W\/R567W<\/jats:italic>\n<\/jats:sup> mutation disrupts CTCF's interaction with chromatin, resulting in alterations to topologically associating domain (TAD) structure within specific genomic regions and diminishing crucial promoter\u2010enhancer interactions necessary for cardiac development. Additionally, we find that the heterozygous CTCF\u2010R567W (<jats:italic>Ctcf<\/jats:italic>\n<jats:sup>\n<jats:italic>+\/R567W<\/jats:italic>\n<\/jats:sup>) mutation significantly compromises cardiac contractility in 8\u2010week\u2010old mice. This study elucidates the mechanism by which the CTCF\u2010R567W mutation hampers cardiac development, underscoring the essential role of CTCF\u2010R567 in embryonic heart development and maturation.<\/jats:p>","DOI":"10.1111\/cpr.13783","type":"journal-article","created":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T05:39:35Z","timestamp":1734413975000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<scp>CTCF<\/scp> Point Mutation at <scp>R567<\/scp> Disrupts Mouse Heart Development via <scp>3D<\/scp> Genome Rearrangement and Transcription Dysregulation"],"prefix":"10.1111","volume":"58","author":[{"given":"Huawei","family":"Ren","sequence":"first","affiliation":[{"name":"College of Veterinary Medicine Shanxi Agricultural University  Jinzhong China"},{"name":"State Key Laboratory of Respiratory Disease Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences  Guangzhou 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