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

doi:10.1093/hmg/6.4.601

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

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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.

Original language	English
Pages (from-to)	601-607
Number of pages	7
Journal	Human Molecular Genetics
Volume	6
Issue number	4
DOIs	https://doi.org/10.1093/hmg/6.4.601
Publication status	Published - Apr 1997

ASJC Scopus subject areas

Genetics

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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.",

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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

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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.

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Identification of the Syrian hamster cardiomyopathy gene

Abstract

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