Department of Otolaryngology, Vanderbilt University School of Medicine, Nashville, TN, USA.
Mech Dev. 2010 May-Jun;127(5-6):292-300. doi: 10.1016/j.mod.2010.03.001. Epub 2010 Mar 7.
The transcription factor TBX1 is a key mediator of developmental abnormalities associated with DiGeorge/Velocardiofacial Syndrome. Studies in mice have demonstrated that decreased dosage of Tbx1 results in defects in pharyngeal arch, cardiovascular, and craniofacial development. The role of Tbx1 in cardiac development has been intensely studied; however, its role in palatal development is poorly understood. By studying the Tbx1-/- mice we found defects during the critical points of palate elongation and elevation. The intrinsic palate defects in the Tbx1-/- mice were determined by measuring changes in palate shelf length, proliferation, apoptosis, expression of relevant growth factors, and in palate fusion assays. Tbx1-/- embryos exhibit cleft palate with failed palate elevation in 100% and abnormal palatal-oral fusions in 50%. In the Tbx1-/- mice the palate shelf length was reduced and tongue height was greater, demonstrating a physical impediment to palate elevation and apposition. In vitro palate fusion assays demonstrate that Tbx1-/- palate shelves are capable of fusion but a roller culture assay showed that the null palatal shelves were unable to elongate. Diminished hyaluronic acid production in the Tbx1-/- palate shelves may explain failed palate shelf elevation. In addition, cell proliferation and apoptosis were perturbed in Tbx1-/- palates. A sharp decrease of Fgf8 expression was detected in the Tbx1-/- palate shelves, suggesting that Fgf8 is dependent on Tbx1 in the palate. Fgf10 is also up-regulated in the Tbx1-/- palate shelves and tongue. These data demonstrate that Tbx1 is a critical transcription factor that guides palatal elongation and elevation and that Fgf8 expression in the palate is Tbx1-dependent.
转录因子 TBX1 是与 DiGeorge/Velocardiofacial 综合征相关的发育异常的关键介质。在小鼠中的研究表明,Tbx1 剂量减少会导致咽弓、心血管和颅面发育缺陷。Tbx1 在心脏发育中的作用已得到深入研究;然而,其在腭发育中的作用知之甚少。通过研究 Tbx1-/- 小鼠,我们发现了腭伸长和升高过程中的缺陷。Tbx1-/- 小鼠的内在腭缺陷通过测量腭架长度、增殖、凋亡、相关生长因子的表达以及腭融合测定来确定。Tbx1-/- 胚胎表现出腭裂,腭升高失败的发生率为 100%,腭-口腔融合异常的发生率为 50%。在 Tbx1-/- 小鼠中,腭架长度缩短,舌高增加,表明腭升高和对位存在物理障碍。体外腭融合测定表明 Tbx1-/- 腭架能够融合,但辊式培养测定表明,缺失的腭架无法伸长。Tbx1-/- 腭架中透明质酸产生减少可能解释了腭架升高失败的原因。此外,Tbx1-/- 腭中的细胞增殖和凋亡受到干扰。在 Tbx1-/- 腭架中检测到 Fgf8 表达急剧下降,表明 Fgf8 在腭中依赖于 Tbx1。Tbx1-/- 腭架和舌中也上调了 Fgf10。这些数据表明 Tbx1 是指导腭伸长和升高的关键转录因子,并且 Fgf8 在腭中的表达依赖于 Tbx1。
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