A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation
A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation
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DOI：
10.1242/dev.00668
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发表时间：
2003-10-01
期刊：
影响因子：
4.6
通讯作者：
Beier, DR
中科院分区：
文献类型：
--
作者：
Rao, C;Foernzler, D;Beier, DR
带状（bt）突变小鼠色素缺陷的几个特征表明，它是由于黑素细胞发育缺陷而发生的，这与其他经典白点突变所描述的缺陷不同。我们在这里报告说，bt小鼠携带突变的Adamts 20，一个新的成员的ADAMTS家族分泌的金属蛋白酶。Adamts 20在发育中的胚胎中显示出高度动态的表达模式，通常先于同一区域中的成黑素细胞的出现，并且在迁移细胞本身中不表达。Adamts 20与线虫远端细胞迁移所需的ADAMTS家族蛋白酶GON-1具有显著的同源性。我们的研究结果表明，ADAMTS蛋白酶在细胞迁移的调节中的作用在哺乳动物发育中是保守的。
Several features of the pigment defect in belted (bt) mutant mice suggest that it occurs as a result of a defect in melanocyte development that is unique from those described for other classical white-spotting mutations. We report here that bt mice carry mutations in Adamts20, a novel member of the ADAMTS family of secreted metalloproteases. Adamts20 shows a highly dynamic pattern of expression in the developing embryo that generally precedes the appearance of melanoblasts in the same region, and is not expressed in the migrating cells themselves. Adamts20 shows remarkable homology with GON-1, an ADAMTS family protease required for distal tip cell migration in C elegans. Our results suggest that the role of ADAMTS proteases in the regulation of cell migration has been conserved in mammalian development.