MURINE MUSCULAR-DYSTROPHY CAUSED BY A MUTATION IN THE LAMININ ALPHA-2 (LAMA2) GENE
MURINE MUSCULAR-DYSTROPHY CAUSED BY A MUTATION IN THE LAMININ ALPHA-2 (LAMA2) GENE
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DOI：
10.1038/ng1194-297
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发表时间：
1994-11-01
期刊：
影响因子：
30.8
通讯作者：
ENGVALL, E
中科院分区：
文献类型：
--
作者：
XU, H;WU, XR;ENGVALL, E
大约40年前，人们首次描述了经典的小鼠肌肉营养不良品系dy。我们已经通过检测层粘连蛋白α2链基因的突变确定了dy的一个等位基因dy(2J)的分子基础--这是第一个在层粘连蛋白-2中发现的突变。剪接位点共有序列中的G到A突变导致多个mRNAs的异常剪接和表达。一个mRNA被翻译成一个在VI域缺失的α2多肽。截短的蛋白显然缺乏野生型蛋白的重要性质，并且不能提供足够的肌肉稳定性。
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 dy(2J), 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.