Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, Los Angeles, CA 90033, USA.
Development. 2014 Feb;141(4):909-17. doi: 10.1242/dev.103093.
Clefting of the soft palate occurs as a congenital defect in humans and adversely affects the physiological function of the palate. However, the molecular and cellular mechanism of clefting of the soft palate remains unclear because few animal models exhibit an isolated cleft in the soft palate. Using three-dimensional microCT images and histological reconstruction, we found that loss of TGFβ signaling in the palatal epithelium led to soft palate muscle defects in Tgfbr2(fl/fl);K14-Cre mice. Specifically, muscle mass was decreased in the soft palates of Tgfbr2 mutant mice, following defects in cell proliferation and differentiation. Gene expression of Dickkopf (Dkk1 and Dkk4), negative regulators of WNT-β-catenin signaling, is upregulated in the soft palate of Tgfbr2(fl/fl);K14-Cre mice, and WNT-β-catenin signaling is disrupted in the palatal mesenchyme. Importantly, blocking the function of DKK1 and DKK4 rescued the cell proliferation and differentiation defects in the soft palate of Tgfbr2(fl/fl);K14-Cre mice. Thus, our findings indicate that loss of TGFβ signaling in epithelial cells compromises activation of WNT signaling and proper muscle development in the soft palate through tissue-tissue interactions, resulting in a cleft soft palate. This information has important implications for prevention and non-surgical correction of cleft soft palate.
腭裂是人类的一种先天性缺陷,会对腭部的生理功能产生不利影响。然而,腭裂的分子和细胞机制尚不清楚,因为很少有动物模型表现出单纯的软腭裂。通过三维 microCT 图像和组织学重建,我们发现腭上皮细胞中 TGFβ 信号的缺失会导致 Tgfbr2(fl/fl);K14-Cre 小鼠的软腭裂肌肉缺陷。具体来说,Tgfbr2 突变小鼠的软腭裂中肌肉质量减少,这是由于细胞增殖和分化缺陷所致。Dickkopf(Dkk1 和 Dkk4)的基因表达,WNT-β-catenin 信号的负调控因子,在 Tgfbr2(fl/fl);K14-Cre 小鼠的软腭裂中上调,而 WNT-β-catenin 信号在腭中胚层中被破坏。重要的是,阻断 DKK1 和 DKK4 的功能可以挽救 Tgfbr2(fl/fl);K14-Cre 小鼠软腭裂中的细胞增殖和分化缺陷。因此,我们的研究结果表明,上皮细胞中 TGFβ 信号的缺失通过组织-组织相互作用损害了 WNT 信号的激活和软腭中的肌肉发育,导致软腭裂。这些信息对于预防和非手术矫正软腭裂具有重要意义。