Role of the mouse ank gene in control of tissue calcification and arthritis
Role of the mouse ank gene in control of tissue calcification and arthritis
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DOI：
10.1126/science.289.5477.265
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发表时间：
2000-07-14
期刊：
影响因子：
56.9
通讯作者：
Kingsley, DM
中科院分区：
文献类型：
--
作者：
Ho, AM;Johnson, MD;Kingsley, DM
小鼠进行性关节强直（ank）位点的突变导致关节炎的普遍性、进行性形式，伴有矿物质沉积、骨增生的形成和关节破坏。在这里，我们表明，ank基因座编码一种多通道跨膜蛋白（ANK），该蛋白在关节和其他组织中表达，并控制培养细胞中的焦磷酸水平。一个高度保守的基因存在于人类和其他脊椎动物中。这些结果确定ANK介导的焦磷酸盐水平的控制作为一种可能的机制，调节组织钙化和关节炎的易感性在高等动物。
Mutation at the mouse progressive ankylosis (ank) locus causes a generalized, progressive form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint destruction. Here, we show that the ank Locus encodes a multipass transmembrane protein (ANK) that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. A highly conserved gene is present in humans and other vertebrates. These results identify ANK-mediated control of pyrophosphate levels as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals.