title: Identification of the Syrian hamster cardiomyopathy gene.
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 delta-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.
authors.affiliation: Istituto di Patologia Generale e Oncologia, Facolta di Medicina, Seconda Università degli Studi di Napoli, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Nigro
authors.forename: Y
authors.initials: Y
authors.lastname: Okazaki
authors.forename: A
authors.initials: A
authors.lastname: Belsito
authors.forename: G
authors.initials: G
authors.lastname: Piluso
authors.forename: Y
authors.initials: Y
authors.lastname: Matsuda
authors.forename: L
authors.initials: L
authors.lastname: Politano
authors.forename: G
authors.initials: G
authors.lastname: Nigro
authors.forename: C
authors.initials: C
authors.lastname: Ventura
authors.forename: C
authors.initials: C
authors.lastname: Abbondanza
authors.forename: A M
authors.initials: AM
authors.lastname: Molinari
authors.forename: D
authors.initials: D
authors.lastname: Acampora
authors.forename: M
authors.initials: M
authors.lastname: Nishimura
authors.forename: Y
authors.initials: Y
authors.lastname: Hayashizaki
authors.forename: G A
authors.initials: GA
authors.lastname: Puca
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015139:Blotting, Southern; D015153:Blotting, Western; D009202:Cardiomyopathies / Q000235:genetics*; D002874:Chromosome Mapping; D006224:Cricetinae; D003598:Cytoskeletal Proteins / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D004195:Disease Models, Animal; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008562:Membrane Glycoproteins / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D008647:Mesocricetus; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D049031:Sarcoglycans; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid
chemical_list: D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans