Murine muscular dystrophy caused by a mutation in the laminin α2 (Lama2) gene

H Xu, XR Wu, UM Wewer, E Engvall - Nature genetics, 1994 - nature.com
H Xu, XR Wu, UM Wewer, E Engvall
Nature genetics, 1994nature.com
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 α2 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 α2 polypeptide with a deletion in domain
VI. The truncated protein apparently lacks important qualities of the wild type protein and is …
Abstract
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 α2 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 α2 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.
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