TY - JOUR
T1 - Identification of the Syrian hamster cardiomyopathy gene
AU - Nigro, Vincenzo
AU - Okazaki, Yasushi
AU - Belsito, Angela
AU - Piluso, Giulio
AU - Matsuda, Yoichi
AU - Politano, Luisa
AU - Nigro, Giovanni
AU - Ventura, Carlo
AU - Abbondanza, Ciro
AU - Molinari, Anna Maria
AU - Acampora, Dario
AU - Nishimura, Masahiko
AU - Hayashizaki, Yoshihide
AU - Puca, Giovanni Alfredo
PY - 1997/4
Y1 - 1997/4
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=8244259185&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=8244259185&partnerID=8YFLogxK
U2 - 10.1093/hmg/6.4.601
DO - 10.1093/hmg/6.4.601
M3 - Article
C2 - 9097966
AN - SCOPUS:8244259185
VL - 6
SP - 601
EP - 607
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 4
ER -