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Published on: March 24, 2017
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IRF6 expression in basal epithelium partially rescues Irf6 knockout mice
Youssef A Kousa1,2, Dina Moussa3, Brian C Schutte1,3,4
1Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, Michigan.
Summary
Targeted expression of IRF6 partially rescued developmental defects in mouse embryos, improving survival and reducing skin adhesions. However, full rescue of orofacial and esophageal development requires IRF6 in both basal and periderm cells.
Area of Science:
- Developmental Biology
- Genetics
- Molecular Biology
Background:
- Mutations in IRF6, CHUK (IKKA), and RIPK4 cause a spectrum of developmental malformations.
- Loss of these genes in mice results in perinatal lethality and severe defects.
- Previous studies demonstrated genetic rescue for Ikka and Ripk4 in mice.
Purpose of the Study:
- To investigate the effect of targeted IRF6 expression on developmental defects in mouse embryos.
- To determine the necessity of IRF6 in specific epithelial cell layers for proper development.
Main Methods:
- Utilized a KRT14 promoter to drive IRF6 expression in the basal epithelium of Irf6 knockout mouse embryos.
- Performed macroscopic examination of rescued embryos to assess phenotypic rescue.
- Analyzed orofacial and esophageal development in rescued embryos.
Main Results:
- Partial genetic rescue of Irf6 knockout embryos was achieved, leading to survival beyond the perinatal period.
- Rescue embryos showed reduced skin adhesions between the axial and appendicular skeleton.
- Orofacial clefting, palate-tongue adhesions, and persistent esophageal adhesions were not completely rescued, indicating a need for IRF6 in periderm.
Conclusions:
- Targeted IRF6 expression can significantly mitigate disease severity in developmental malformations.
- Adequate IRF6 levels in both basal epithelial and periderm cells are crucial for normal orofacial development.
- The study highlights conserved human and mouse phenotypes for IRF6, IKKA, and RIPK4, emphasizing the impact of IRF6 expression levels on developmental outcomes.
