ArticleDevelopmental dynamics : an official publication of the American Association of Anatomists2017
IRF6 expression in basal epithelium partially rescues Irf6 knockout mice.
Article in Developmental dynamics : an official publication of the American Association of Anatomists, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Interferon regulatory factor 6 (IRF6) determines intestinal epithelial cell development and immunity.Mucosal immunology · 2024Article
- Simultaneous Occurrence of Hypospadias and Bilateral Cleft Lip and Jaw in a Crossbred Calf: Clinical, Computer Tomographic, and Genomic Characterization.Animals : an open access journal from MDPI · 2023Article
- Mouse models in palate development and orofacial cleft research: Understanding the crucial role and regulation of epithelial integrity in facial and palate morphogenesis.Current topics in developmental biology · 2022Article
- MicroRNA miR-330-3p suppresses the progression of ovarian cancer by targeting RIPK4.Bioengineered · 2021Article
- Lack of IRF6 Disrupts Human Epithelial Homeostasis by Altering Colony Morphology, Migration Pattern, and Differentiation Potential of Keratinocytes.Frontiers in cell and developmental biology · 2021Article
- AnDevelopment (Cambridge, England) · 2020Article
- SPECC1L regulates palate development downstream of IRF6.Human molecular genetics · 2020Article
- The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function.Nature · 2019Article
- The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.Human molecular genetics · 2019Article
- A cleft lip and palate gene, Irf6, is involved in osteoblast differentiation of craniofacial bone.Developmental dynamics : an official publication of the American Association of Anatomists · 2019Article
- IRF6 and AP2A Interaction Regulates Epidermal Development.The Journal of investigative dermatology · 2018Article
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3 authors.
Funding
Abstract
backgroundMutations in IRF6, CHUK (IKKA), and RIPK4 can lead to a disease spectrum that includes cutaneous, limb, and craniofacial malformations. Loss of these alleles in the mouse leads to perinatal lethality and severe cutaneous, limb, and craniofacial defects also. Genetic rescue in the mouse has been shown for Ikka and Ripk4.
resultsHere, we show partial genetic rescue of Irf6 knockout embryos using the KRT14 promoter to drive Irf6 expression in the basal epithelium. In contrast to Irf6 knockout embryos, rescue embryos survive the immediate perinatal period. Macroscopic examination reveals rescue of skin adhesions between the axial and appendicular skeleton. Unexpectedly, KRT14-driven Irf6 expression does not completely rescue orofacial clefting and adhesions between the palate and tongue, suggesting the importance of cell-autonomous IRF6 expression in periderm. Like knockout embryos, Irf6 rescue embryos also have persistent esophageal adhesions, which likely contribute to postnatal demise.
conclusionsTogether, these data suggest that targeted expression of IRF6 can significantly reduce disease severity, but that a minimum level of Irf6 in both periderm and basal epithelial cells is necessary for orofacial development. Therefore, homologous human and mouse phenotypes are observed for IRF6, IKKA, and RIPK4. In this work, we show that altering the expression level of IRF6 dramatically modified this phenotype in utero. Developmental Dynamics 246:670-681, 2017. © 2017 Wiley Periodicals, Inc.
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