Department of Cell Biology, University of Virginia, Charlottesville, VA 22908, USA.
Dev Biol. 2012 Feb 15;362(2):172-86. doi: 10.1016/j.ydbio.2011.12.008. Epub 2011 Dec 11.
Development of the mammalian inner ear requires coordination of cell proliferation, cell fate determination and morphogenetic movements. While significant progress has been made in identifying developmental signals required for inner ear formation, less is known about how distinct signals are coordinated by their downstream mediators. Members of the Rac family of small GTPases are known regulators of cytoskeletal remodeling and numerous other cellular processes. However, the function of Rac GTPases in otic development is largely unexplored. Here, we show that Rac1 and Rac3 redundantly regulate many aspects of inner ear morphogenesis. While no morphological defects were observed in Rac3(-/-) mice, Rac1(CKO); Rac3(-/-) double mutants displayed enhanced vestibular and cochlear malformations compared to Rac1(CKO) single mutants. Moreover, in Rac1(CKO); Rac3(-/-) mutants, we observed compromised E-cadherin-mediated cell adhesion, reduced cell proliferation and increased cell death in the early developing otocyst, leading to a decreased size and malformation of the membranous labyrinth. Finally, cochlear extension was severely disrupted in Rac1(CKO); Rac3(-/-) mutants, accompanied by a loss of epithelial cohesion and formation of ectopic sensory patches underneath the cochlear duct. The compartmentalized expression of otic patterning genes within the Rac1(CKO); Rac3(-/-) mutant otocyst was largely normal, however, indicating that Rac proteins regulate inner ear morphogenesis without affecting cell fate specification. Taken together, our results reveal an essential role for Rac GTPases in coordinating cell adhesion, cell proliferation, cell death and cell movements during otic development.
哺乳动物内耳的发育需要细胞增殖、细胞命运决定和形态发生运动的协调。虽然已经在确定内耳形成所需的发育信号方面取得了重大进展,但对于不同信号如何通过其下游介质进行协调知之甚少。Rac 家族的小 GTPases 是细胞骨架重塑和许多其他细胞过程的已知调节剂。然而,Rac GTPases 在耳发育中的功能在很大程度上尚未得到探索。在这里,我们表明 Rac1 和 Rac3 冗余地调节内耳形态发生的许多方面。虽然在 Rac3(-/-) 小鼠中没有观察到形态缺陷,但与 Rac1(CKO) 单突变体相比,Rac1(CKO); Rac3(-/-) 双突变体显示出增强的前庭和耳蜗畸形。此外,在 Rac1(CKO); Rac3(-/-) 突变体中,我们观察到早期发育的耳泡中 E-钙粘蛋白介导的细胞黏附受损、细胞增殖减少和细胞死亡增加,导致膜迷路的体积减小和畸形。最后,在 Rac1(CKO); Rac3(-/-) 突变体中,耳蜗延伸严重受损,伴随着上皮细胞黏附丧失和耳蜗管下方形成异位感觉斑块。然而,在 Rac1(CKO); Rac3(-/-) 突变体的耳泡中,耳形态发生基因的分区表达基本正常,这表明 Rac 蛋白在不影响细胞命运特化的情况下调节内耳形态发生。总之,我们的结果揭示了 Rac GTPases 在协调耳发育过程中的细胞黏附、细胞增殖、细胞死亡和细胞运动中的重要作用。