Chamberlain J S, Pearlman J A, Muzny D M, Gibbs R A, Ranier J E, Caskey C T, Reeves A A
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
Science. 1988 Mar 18;239(4846):1416-8. doi: 10.1126/science.3347839.
Complementary DNA clones were isolated that represent the 5' terminal 2.5 kilobases of the murine Duchenne muscular dystrophy (Dmd) messenger RNA (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.
分离出了互补DNA克隆，它们代表小鼠杜兴氏肌营养不良症（Dmd）信使核糖核酸（mRNA）5'末端的2.5千碱基。在骨骼肌和心肌中可检测到小鼠Dmd mRNA，而在脑中的水平大约低90%。在三种不同品系的肌营养不良mdx小鼠的肌肉和脑中也存在Dmd mRNA，但水平远低于正常。在脑中鉴定出Dmd mRNA增加了人类杜兴氏肌营养不良症（DMD）基因表达与一些DMD男性中发现的智力迟钝之间存在关联的可能性。这些结果也提供了证据，表明mdx突变是小鼠Dmd基因突变的等位变体。
