Differentiation Factors in Cartilage and Bone Formation and Regeneration

在我们发现 软骨衍生的形态发生蛋白-1（CCR 1 -1）导致 临床严重疾病，Grebe型软骨发育不良（OMIM 编号200700），我们已经从一个 更多的家庭。然而，尽管进行了广泛的分析， 能够检测到基因编码区的突变。是 因此，很有可能突变可能存在于其中一个 监管区域。考虑到这一点，我们已经开始确定 功能调节元件的位置。此外如 CCL 1是第一个在推定关节中表达的特异性标志物 区域间，cdmp-1调节元件的表征可 为基因靶向方法提供了有用的基础， 退行性关节病分离出小鼠和人类 cdmp-1，我们正在进行瞬时转基因实验， 确定软骨的位置和关节特异性调节 元素

Following our discovery that mutations in Cartilage-Derived Morphogenetic Protein-1 (CDMP-1) cause the clinically severe disorder, Grebe type chondrodyplasia (OMIM number 200700), we have obtained DNA samples from an additional family. However, despite extensive analysis we have not been able to detect a mutation in the coding region of the gene. It is quite possible therefore that a mutation may reside in one of the regulatory regions. With this in mind, we have started to determine the location of functional regulatory elements. Furthermore, as CDMP-1 is the first specific marker expressed in presumptive joint interzones, characterization of cdmp-1 regulatory elements may provide a useful basis for gene targeting approaches to combat degenerative joint disease. Having isolated both mouse and human cdmp-1, we are conducting transient transgenic experiments to determine the location of the cartilage and joint-specific regulatory elements.