Identification of the Syrian Hamster Cardiomyopathy Gene

Hum Mol Genet. 1997 Apr;6(4):601-7. doi: 10.1093/hmg/6.4.601.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Blotting, Southern
  • Blotting, Western
  • Cardiomyopathies / genetics*
  • Chromosome Mapping
  • Cricetinae
  • Cytoskeletal Proteins / chemistry
  • Cytoskeletal Proteins / deficiency
  • Cytoskeletal Proteins / genetics*
  • Disease Models, Animal
  • Female
  • Genetic Linkage
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Membrane Glycoproteins / chemistry
  • Membrane Glycoproteins / deficiency
  • Membrane Glycoproteins / genetics*
  • Mesocricetus
  • Molecular Sequence Data
  • Mutation / genetics
  • Polymerase Chain Reaction
  • Sarcoglycans
  • Sequence Deletion
  • Sequence Homology, Amino Acid

Substances

  • Cytoskeletal Proteins
  • Membrane Glycoproteins
  • Sarcoglycans

Associated data

  • GENBANK/Y08840

Grant support