{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T13:28:05Z","timestamp":1782221285085,"version":"3.54.5"},"reference-count":53,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,10,9]],"date-time":"2022-10-09T00:00:00Z","timestamp":1665273600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2023,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital nonsyndromic cleft lip and palate (NSCLP) is one of the most common malformations worldwide. DNA methylation has been implicated in many diseases. However, its involvement in lip tissue from NSCLP is not well understood. This study aimed to investigate the role of dysregulated DNA methylation in NSCLP. DNA methylation profile was determined in eight injured and five self\u2010normal lip tissue samples from children with NSCLP by whole\u2010genome bisulfite sequencing. A total of 2,711 differentially methylated regions (DMRs), corresponding to 1,231 genes were identified. Given the important role of promoter methylation in regulating gene expression, the promoter DMR\u2010related genes were considered. Bioinformatics analysis demonstrated that some of them showed potential associations with NSCLP. Therefore, the well\u2010known NSCLP susceptibility gene, GLI family zinc finger 2 (<jats:italic>GLI2<\/jats:italic>) with an unknown role in its DNA methylation in NSCLP, was selected for further analysis. The promoter hypomethylation and higher mRNA expression level of <jats:italic>GLI2<\/jats:italic> were observed in injured lip tissues by verification in additional samples. Moreover, dual luciferase reporter assay indicated that promoter hypermethylation of <jats:italic>GLI2<\/jats:italic> inhibited its transcription. Overall, this study suggested that abnormal DNA methylation in lip tissue may be correlated with the pathogenesis of congenital NSCLP.<\/jats:p>","DOI":"10.1002\/bdr2.2102","type":"journal-article","created":{"date-parts":[[2022,10,10]],"date-time":"2022-10-10T11:33:08Z","timestamp":1665401588000},"page":"205-217","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["<scp>DNA<\/scp> methylation profile of lip tissue from congenital nonsyndromic cleft lip and palate patients by whole\u2010genome bisulfite sequencing"],"prefix":"10.1002","volume":"115","author":[{"given":"Bowen","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Facial Plastic and Reconstructive Surgery Eye &amp; ENT Hospital, ENT Institute, Fudan University  Shanghai China"},{"name":"Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology School of Basic Medical 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