Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene.
作者： Hong Xu , Xiao-Rong Wu , Ulla M. Wewer , Eva Engvall
DOI: 10.1038/NG1194-297
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摘要: The classic murine muscular dystrophy strain, dy, was first described almost 40 years ago. We have identified the molecular basis of an allele called dy2J, by detecting a mutation in laminin α2 chain gene — laminin-2. G to A splice site consensus sequence causes abnormal splicing and expression multiple mRNAs. One mRNA is translated into polypeptide with deletion domain VI. truncated protein apparently lacks important qualities wild type unable provide sufficient muscle stability.
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