{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:00:58Z","timestamp":1790974858171,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,11,23]],"date-time":"2011-11-23T00:00:00Z","timestamp":1322006400000},"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":[[2012,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:styled-content>Background:<\/jats:styled-content> DNA variation in Interferon Regulatory Factor 6 (<jats:italic>IRF6<\/jats:italic>) contributes risk for orofacial clefting, including a common DNA variant rs642961. This DNA variant is located in a multi\u2010species conserved sequence that is 9.7 kb upstream from the <jats:italic>IRF6<\/jats:italic> transcriptional start site (<jats:italic>MCS9.7<\/jats:italic>). The <jats:italic>MCS9.7<\/jats:italic> element was shown to possess enhancer activity that mimicked the expression of endogenous <jats:italic>Irf6<\/jats:italic> at embryonic day 11.5 in transient transgenic embryos, and also contains a p63 binding site that transactivates <jats:italic>IRF6<\/jats:italic> expression. To analyze whether the <jats:italic>MCS9.7<\/jats:italic> enhancer is sufficient to drive <jats:italic>IRF6<\/jats:italic> expression, we generated stable transgenic murine lines that carry a <jats:italic>MCS9.7\u2010lacZ<\/jats:italic> transgene. We hypothesized that <jats:italic>MCS9.7<\/jats:italic> was sufficient to recapitulate the endogenous expression of <jats:italic>Irf6<\/jats:italic> at other time\u2010points during embryonic development. <jats:styled-content>Results:<\/jats:styled-content> We observed that <jats:italic>MCS9.7<\/jats:italic> activity recapitulated endogenous <jats:italic>Irf6<\/jats:italic> expression in most tissues, but not in the medial edge epithelium (MEE) at E14.5, when Irf6 expression was high during secondary palatal fusion. Also, while <jats:italic>MCS9.7<\/jats:italic> activity and Irf6 expression were associated with p63 expression, we observed <jats:italic>MCS9.7<\/jats:italic> activity and Irf6 expression in periderm, although p63 was absent. <jats:styled-content>Conclusion:<\/jats:styled-content> These data suggest that <jats:italic>MCS9.7<\/jats:italic> enhancer activity is not sufficient to recapitulate <jats:italic>IRF6<\/jats:italic> expression, and that p63 expression is not always necessary nor sufficient for transactivation of <jats:italic>IRF6<\/jats:italic>. Developmental Dynamics 241:340\u2013349, 2012. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/dvdy.22786","type":"journal-article","created":{"date-parts":[[2011,11,4]],"date-time":"2011-11-04T09:35:40Z","timestamp":1320399340000},"page":"340-349","source":"Crossref","is-referenced-by-count":42,"title":["<i>MCS9.7<\/i> enhancer activity is highly, but not completely, associated with expression of Irf6 and p63"],"prefix":"10.1002","volume":"241","author":[{"given":"Walid 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