Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: An in vitro model to study chondrodysplasias

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• 作者：Catherine Benoist-Lasselin ; Linda Gibbs ; Solange Heuertz ; Thierry Odent ; Arnold Munnich ; Laurence Legeai-Mallet
• 关键词：FGFR3 mutations ; Human immortalized chondrocytes ; Chondrodysplasias
• 刊名：FEBS Letters
• 出版年：2007
• 期刊代码：70_00145793
• 类别：bio
• 出版时间：12 June 2007
• 卷：581
• 期：14
• 页码：2593-2598
• 文件大小：588 K

摘要

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.