Achondroplasia and thanatophoric dysplasia are human chondrodysplasias caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. We have developed an immortalized human chondrocyte culture model to study the regulation of chondrocyte functions. One control and eight mutant chondrocytic lines expressing different FGFR3 heterozygous mutations were obtained. FGFR3 signaling pathways were modified in the mutant lines as revealed by the constitutive activation of the STAT pathway and an increased level of P21(WAF1/CIP1) protein. This model will be useful for the study of FGFR3 function in cartilage studies and future therapeutic approaches in chondrodysplasias.

译文

软骨发育不全和发育不良是由成纤维细胞生长因子受体3 (FGFR3) 基因突变引起的人类软骨发育不良。我们已经开发了一种永生化的人类软骨细胞培养模型,以研究软骨细胞功能的调节。获得了一个表达不同FGFR3杂合突变的对照和八个突变的软骨细胞系。通过STAT途径的组成型激活和P21(WAF1/CIP1) 蛋白水平的升高,揭示了突变株中FGFR3信号通路的修饰。该模型将有助于研究FGFR3在软骨研究中的功能以及软骨发育不良的未来治疗方法。

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