Xu H, Wu X R, Wewer U M, Engvall E
La Jolla Cancer Research Foundation, California 92037.
Nat Genet. 1994 Nov;8(3):297-302. doi: 10.1038/ng1194-297.
The classic murine muscular dystrophy strain, dy, was first described almost 40 years ago. We have identified the molecular basis of an allele of dy, called dy2J, by detecting a mutation in the laminin alpha 2 chain gene--the first identified mutation in laminin-2. The G to A mutation in a splice site consensus sequence causes abnormal splicing and expression of multiple mRNAs. One mRNA is translated into an alpha 2 polypeptide with a deletion in domain VI. The truncated protein apparently lacks important qualities of the wild type protein and is unable to provide sufficient muscle stability.
经典的小鼠肌肉萎缩症品系dy于近40年前首次被描述。我们通过检测层粘连蛋白α2链基因中的突变，确定了dy的一个等位基因dy2J的分子基础，这是首次在层粘连蛋白-2中鉴定出的突变。剪接位点共有序列中的G到A突变导致多种mRNA的异常剪接和表达。一种mRNA被翻译成在结构域VI中缺失的α2多肽。截短的蛋白质显然缺乏野生型蛋白质的重要特性，无法提供足够的肌肉稳定性。
