Identification of the Syrian Hamster Cardiomyopathy Gene
Human molecular genetics, 1997•academic.oup.com
The BIO14. 6 hamster is a widely used model for autosomal recessive cardiomyopathy.
These animals die prematurely from progressive myocardial necrosis and heart failure. The
primary genetic defect leading to the cardiomyopathy is still unknown. Recently, a genetic
linkage map localized the cardiomyopathy locus on hamster chromosome 9qa2. 1-b1,
excluding several candidate genes. We now demonstrate that the cardiomyopathy results
from a mutation in the δ-sarcoglycan gene that maps to the disease locus. This mutation was …
These animals die prematurely from progressive myocardial necrosis and heart failure. The
primary genetic defect leading to the cardiomyopathy is still unknown. Recently, a genetic
linkage map localized the cardiomyopathy locus on hamster chromosome 9qa2. 1-b1,
excluding several candidate genes. We now demonstrate that the cardiomyopathy results
from a mutation in the δ-sarcoglycan gene that maps to the disease locus. This mutation was …
Abstract
The BIO14.6 hamster is a widely used model for autosomal recessive cardiomyopathy. These animals die prematurely from progressive myocardial necrosis and heart failure. The primary genetic defect leading to the cardiomyopathy is still unknown. Recently, a genetic linkage map localized the cardiomyopathy locus on hamster chromosome 9qa2.1-b1, excluding several candidate genes. We now demonstrate that the cardiomyopathy results from a mutation in the δ-sarcoglycan gene that maps to the disease locus. This mutation was completely coincident with the disease in backcross and F2 pedigrees. This constitutes the first animal model identified for human sarcoglycan disorders.
Oxford University Press