Carroll Shannon H, Schafer Sogand, Dalessandro Eileen, Ho Thach-Vu, Chai Yang, Liao Eric C
Center for Craniofacial Innovation, Children's Hospital of Philadelphia Research Institute, Children's Hospital of Philadelphia, PA, 19104, USA.
Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA, USA.
Dev Biol. 2025 Jun;522:106-115. doi: 10.1016/j.ydbio.2025.03.006. Epub 2025 Mar 18.
IRF6 is a key genetic determinant of cleft lip and palate. The ability to interrogate post-embryonic requirements of Irf6 has been hindered, as global Irf6 ablation in the mouse causes neonatal lethality. Prior work analyzing Irf6 in mice defined its role in the embryonic surface epithelium and periderm, where it regulates cell proliferation and differentiation. Several reports have also described Irf6 expression in other cell types, such as muscle, and neuroectoderm. However, analysis of a functional role in non-epithelial cells has been incomplete due to the severity and lethality of the Irf6 knockout model and the paucity of work with a conditional Irf6 allele. Here we describe the generation and characterization of a new Irf6 floxed mouse model and analysis of Irf6 ablation in periderm and neural crest lineages. This work found that loss of Irf6 in periderm recapitulates a mild Irf6 null phenotype, suggesting that Irf6-mediated signaling in periderm plays a crucial role in regulating embryonic development. Further, conditional ablation of Irf6 in neural crest cells resulted in an anterior neural tube defect of variable penetrance. The generation of this conditional Irf6 allele allows for new insights into craniofacial development and new exploration into the post-natal role of Irf6.
IRF6是唇腭裂的关键基因决定因素。由于小鼠中全局Irf6基因敲除会导致新生儿死亡,因此对Irf6胚胎后需求的研究能力受到了阻碍。先前在小鼠中分析Irf6的工作确定了其在胚胎表面上皮和周皮中的作用,它在其中调节细胞增殖和分化。一些报告还描述了Irf6在其他细胞类型中的表达,如肌肉和神经外胚层。然而,由于Irf6基因敲除模型的严重性和致死性以及条件性Irf6等位基因的研究工作较少,对非上皮细胞功能作用的分析并不完整。在这里,我们描述了一种新的Irf6基因敲除小鼠模型的构建和表征,以及对周皮和神经嵴谱系中Irf6基因敲除的分析。这项工作发现周皮中Irf6的缺失重现了轻度Irf6基因敲除表型,表明周皮中Irf6介导的信号传导在调节胚胎发育中起关键作用。此外,神经嵴细胞中Irf6的条件性敲除导致了不同程度的前神经管缺陷。这种条件性Irf6等位基因的产生为颅面发育提供了新的见解,并为Irf6的出生后作用提供了新的探索方向。