Journal Article

Identification of the Syrian Hamster <i>Cardiomyopathy</i> 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 and Giovanni Alfredo Puca

in Human Molecular Genetics

Volume 6, issue 4, pages 601-607
Published in print April 1997 | ISSN: 0964-6906
Published online April 1997 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/6.4.601
Identification of the Syrian Hamster Cardiomyopathy Gene

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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.

Journal Article.  4901 words.  Illustrated.

Subjects: Genetics and Genomics

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