Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene
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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.
Originalsprog | Engelsk |
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Tidsskrift | Nature Genetics |
Vol/bind | 8 |
Udgave nummer | 3 |
Sider (fra-til) | 297-302 |
Antal sider | 6 |
ISSN | 1061-4036 |
DOI | |
Status | Udgivet - 1 nov. 1994 |
ID: 34326139