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Applying Chromatin Immunoprecipitation (ChIP), Electrophoretic mobility shift and super-shift assays, we found that the mutant G allele recruited more STAT1 and STAT3, and increased the expression of TAF11. RNA sequencing, GO and KEGG pathway enrichment, ChIP and dual-luciferase reporter assays revealed that TAF11 downregulated CDH1 and CTNND1 in the cell adhesion pathway by binding to their promoter regions and inhibiting transcriptional activities. Alcian blue staining, time-lapse photography, whole-mount in situ hybridization, phospho-Histone H3 immunofluorescence and TUNEL assays indicated that TAF11 and taf11 overexpression (TAF11OE and taf11OE, respectively) contributed to disturbed migration of cranial neural crest cells and abnormal craniofacial development, as well as increased death and deformity rates in zebrafish. In conclusion, a functionally relevant TAF11 variant, affecting cell migration via modulating CDH1 and CTNND1, was associated with etiology of NSCLO.<\/jats:p>","DOI":"10.1093\/hmg\/ddae188","type":"journal-article","created":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T11:12:44Z","timestamp":1735297964000},"page":"392-401","source":"Crossref","is-referenced-by-count":2,"title":["A <i>TAF11<\/i> variant contributes to non-syndromic cleft lip only through modulating neural crest cell migration"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8644-0127","authenticated-orcid":false,"given":"Dandan","family":"Li","sequence":"first","affiliation":[{"name":"Department of Orthodontics , The Affiliated Stomatological Hospital of Nanjing Medical University, No. 1 Shanghai Road, Gulou District, Nanjing 210029 ,","place":["China"]},{"name":"State Key Laboratory Cultivation Base of Research , Prevention and Treatment for Oral Diseases, , No. 136 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