Intercellular Genetic Interaction Between Irf6 and Twist1 during Craniofacial Development.

ABSTRACT: Interferon Regulatory Factor 6 (IRF6) and TWIST1 are transcription factors necessary for craniofacial development. Human genetic studies showed that mutations in IRF6 lead to cleft lip and palate and mandibular abnormalities. In the mouse, we found that loss of Irf6 causes craniosynostosis and mandibular hypoplasia. Similarly, mutations in TWIST1 cause craniosynostosis, mandibular hypoplasia and cleft palate. Based on this phenotypic overlap, we asked if Irf6 and Twist1 interact genetically during craniofacial formation. While single heterozygous mice are normal, double heterozygous embryos (Irf6 ^+/- ; Twist1 ^+/- ) can have severe mandibular hypoplasia that leads to agnathia and cleft palate at birth. Analysis of spatiotemporal expression showed that Irf6 and Twist1 a

SUBMITTER: Fakhouri WD 

PROVIDER: S-EPMC5540929 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature