{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T19:19:13Z","timestamp":1770751153465,"version":"3.50.0"},"reference-count":68,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,11,25]],"date-time":"2015-11-25T00:00:00Z","timestamp":1448409600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Developmental Dynamics"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:p><jats:bold><jats:styled-content>Background:<\/jats:styled-content><\/jats:bold> Roberts syndrome (RBS) is a rare genetic disorder characterized by craniofacial abnormalities, limb malformation, and often severe mental retardation. RBS arises from mutations in <jats:italic>ESCO2<\/jats:italic> that encodes an acetyltransferase and modifies the cohesin subunit SMC3. Mutations in <jats:italic>SCC2\/NIPBL<\/jats:italic> (encodes a cohesin loader), <jats:italic>SMC3<\/jats:italic> or other cohesin genes (<jats:italic>SMC1, RAD21\/MCD1<\/jats:italic>) give rise to a related developmental malady termed Cornelia de Lange syndrome (CdLS). RBS and CdLS exhibit overlapping phenotypes, but RBS is thought to arise through mitotic failure and limited progenitor cell proliferation while CdLS arises through transcriptional dysregulation. Here, we use the zebrafish regenerating fin model to test the mechanism through which RBS\u2010type phenotypes arise. <jats:bold><jats:styled-content>Results<\/jats:styled-content><\/jats:bold>: <jats:italic>esco2<\/jats:italic> is up\u2010regulated during fin regeneration and specifically within the blastema. <jats:italic>esco2<\/jats:italic> knockdown adversely affects both tissue and bone growth in regenerating fins\u2014consistent with a role in skeletal morphogenesis. <jats:italic>esco2<\/jats:italic>\u2010knockdown significantly diminishes <jats:italic>cx43\/gja1<\/jats:italic> expression which encodes the gap junction connexin subunit required for cell\u2013cell communication. <jats:italic>cx43<\/jats:italic> mutations cause the <jats:italic>short fin<\/jats:italic> (<jats:italic>sof<\/jats:italic><jats:sup><jats:italic>b123<\/jats:italic><\/jats:sup>) phenotype in zebrafish and oculodentodigital dysplasia (ODDD) in humans. Importantly, miR\u2010133\u2010dependent <jats:italic>cx43<\/jats:italic> overexpression rescues <jats:italic>esco2<\/jats:italic>\u2010dependent growth defects. <jats:bold><jats:styled-content>Conclusions<\/jats:styled-content><\/jats:bold>: These results conceptually link ODDD to cohesinopathies and provide evidence that ESCO2 may play a transcriptional role critical for human development. <jats:italic>Developmental Dynamics 245:7\u201321, 2016<\/jats:italic>. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/dvdy.24354","type":"journal-article","created":{"date-parts":[[2015,10,5]],"date-time":"2015-10-05T05:14:46Z","timestamp":1444022086000},"page":"7-21","source":"Crossref","is-referenced-by-count":37,"title":["Esco2 regulates <i>cx43<\/i> expression during skeletal regeneration in the zebrafish fin"],"prefix":"10.1002","volume":"245","author":[{"given":"Rajeswari","family":"Banerji","sequence":"first","affiliation":[{"name":"Department of Biological Science Lehigh University Bethlehem Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diane M.","family":"Eble","sequence":"additional","affiliation":[{"name":"Department of Biological Science Lehigh University Bethlehem Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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