Identification of the Syrian hamster cardiomyopathy gene

Vincenzo Nigro, Yasushi Okazaki, Angela Belsito, Giulio Piluso, Yoichi Matsuda, Luisa Politano, Giovanni Nigro, Carlo Ventura, Ciro Abbondanza, Anna Maria Molinari, Dario Acampora, Masahiko Nishimura, Yoshihide Hayashizaki, Giovanni Alfredo Puca

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)601-607
Number of pages7
JournalHuman Molecular Genetics
Issue number4
Publication statusPublished - Apr 1997

ASJC Scopus subject areas

  • Genetics


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