Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice
Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice
复制标题
斑纹和斑点小鼠中 Menkes 基因的鼠同源物突变
作者：
J. Mercer;A. Grimes;L. Ambrosini;P. Lockhart;Jennifer A. Paynter;H. Dierick;T. Glover
以人的基因克隆为探针，通过聚合酶链式反应从文库中分离出孟克斯病基因(MNK)的小鼠同源基因。预测的氨基酸序列与人类蛋白质有很高的同源性(89.9%)，并且人类蛋白质中存在预测的功能结构域。利用小鼠MNK基因的探针，我们发现斑点突变是由MNK基因位点的改变和MNK RNA的缺乏表达引起的。斑点鼠的组织中含有两个较大尺寸的MNK mRNA，这表明RNA剪接可能存在缺陷。因此，斑点基因与人类MNK基因同源，斑点和斑点是该基因的等位基因突变。
The murine homologue of the Menkes disease gene (MNK) was isolated from cDNA libraries, using human cDNA clones as probes, and by PCR. The predicted amino acid sequence shows a high level of identity (89.9%) with the human protein, and the predicted functional domains in the human protein are present. Using probes to the mouse Mnk gene, we found that the mottled dappled mutation was caused by alteration in the Mnk locus and lack of expression of Mnk RNA. Tissues of the blotchy mouse contained two larger sizes of MNK mRNA demonstrating a likely defect in RNA splicing. Thus, the mottled locus is homologous to the human MNK locus and dappled and blotchy are allelic mutations in this gene.