EXPRESSION OF THE MURINE DUCHENNE MUSCULAR-DYSTROPHY GENE IN MUSCLE AND BRAIN
EXPRESSION OF THE MURINE DUCHENNE MUSCULAR-DYSTROPHY GENE IN MUSCLE AND BRAIN
复制标题
DOI：
10.1126/science.3347839
复制
发表时间：
1988-03-18
期刊：
影响因子：
56.9
通讯作者：
CASKEY, CT
中科院分区：
文献类型：
--
作者：
CHAMBERLAIN, JS;PEARLMAN, JA;CASKEY, CT
分离互补DNA克隆，其代表鼠杜氏肌营养不良症（Dmd）信使NRA（mRNA）的5“末端2.5内切酶。小鼠骨骼肌和心肌中可检测到Dmd mRNA，大脑中的水平约低90%。在三种不同品系的营养不良mdx小鼠的肌肉和大脑中也存在Dmd mRNA，但其水平远低于正常水平。Dmd mRNA在脑中的鉴定提出了人类杜氏肌营养不良症（DMD）基因表达与某些DMD男性中发现的智力低下之间的关系的可能性。这些结果也提供了mdx突变是小鼠Dmd基因突变的等位基因变体的证据。
Complementary DNA clones were isolated that represent the 5'' terminal 2.5 kilobases of the murine Duchenne muscular dystrophy (Dmd) messenger NRA (mRNA). Mouse Dmd mRNA was detectable in skeletal and cardiac muscle and at a level approximately 90 percent lower in brain. Dmd mRNA is also present, but at much lower than normal levels, in both the muscle and brain of three different strains of dystrophic mdx mice. The identification of Dmd mRNA in brain raises the possibility of a relation between human Duchenne muscular dystrophy (DMD) gene expression and the mental retardation found in some DMD males. These results also provide evidence that the mdx mutations are allelic variants of mouse Dmd gene mutations.