Gene expression profiling of the tongue in Tgfbr2 mutant mouse models

The overall goal of this project is to investigate the role of TGF-beta signaling in tongue development in order to study the contribution of cranial neural crest (CNC) cells towards the patterning of cranial mesoderm for proper tongue formation. Here, we conducted gene expression profiling of embryonic tongue tissue from wild type mice as well as those with a neural crest specific conditional inactivation of the Tgfbr2 gene. The latter mice provide a model of microglossia, a common congenital birth defect which is frequently observed with several syndromic conditions. To investigate the mechanism of microglossia resulting from dysfunctional TGF-Beta signaling during muscle development, we analyzed neural crest specific conditional inactivation of Tgfbr2 in mice (Tgfbr2fl/fl;Wnt1-Cre). We performed microarray analyses of tongue tissue of Tgfbr2fl/fl;Wnt1-Cre mutant mice and Tgfbr2fl/fl control mice at embryonic day E14.5 (n=3 per genotype) to examine the genes regulated by Tgf-beta during tongue muscle development.本研究的核心目标为探究转化生长因子-β（TGF-beta）信号通路在舌发育中的作用，以期阐明颅神经嵴（cranial neural crest, CNC）细胞对颅中胚层模式形成的贡献，进而保障舌的正常发育。本研究对野生型小鼠，以及携带神经嵴特异性转化生长因子β受体2（Tgfbr2）基因条件性失活的小鼠的胚胎舌组织开展了基因表达谱分析。其中，后者可作为小舌畸形（microglossia）的疾病模型——小舌畸形是一种常见的先天性出生缺陷，常与多种综合征伴随出现。为探究肌肉发育过程中TGF-beta信号通路功能异常引发小舌畸形的分子机制，本研究针对携带神经嵴特异性Tgfbr2基因条件性失活的小鼠（Tgfbr2fl/fl;Wnt1-Cre）展开分析。我们对胚胎发育第14.5天（E14.5）的Tgfbr2fl/fl;Wnt1-Cre突变小鼠与Tgfbr2fl/fl对照小鼠的舌组织进行了微阵列分析，每个基因型组的样本量均为3，以此筛选舌肌肉发育过程中受TGF-beta调控的基因。