Targeted disruption of the murine Bin1/Amphiphysin II gene does not disable endocytosis but results in embryonic cardiomyopathy with aberrant myofibril formation

Mol Cell Biol. 2003 Jun;23(12):4295-306. doi: 10.1128/MCB.23.12.4295-4306.2003.

Abstract

The mammalian Bin1/Amphiphysin II gene encodes an assortment of alternatively spliced adapter proteins that exhibit markedly divergent expression and subcellular localization profiles. Bin1 proteins have been implicated in a variety of different cellular processes, including endocytosis, actin cytoskeletal organization, transcription, and stress responses. To gain insight into the physiological functions of the Bin1 gene, we have disrupted it by homologous recombination in the mouse. Bin1 loss had no discernible impact on either endocytosis or phagocytosis in mouse embryo-derived fibroblasts and macrophages, respectively. Similarly, actin cytoskeletal organization, proliferation, and apoptosis in embryo fibroblasts were all unaffected by Bin1 loss. In vivo, however, Bin1 loss resulted in perinatal lethality. Bin1 has been reported to affect muscle cell differentiation and T-tubule formation. No striking histological abnormalities were evident in skeletal muscle of Bin1 null embryos, but severe ventricular cardiomyopathy was observed in these embryos. Ultrastructurally, myofibrils in ventricular cardiomyocytes of Bin1 null embryos were severely disorganized. These results define a developmentally critical role for the Bin1 gene in cardiac muscle development.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Actins / metabolism
  • Adaptor Proteins, Signal Transducing*
  • Animals
  • Apoptosis
  • Blotting, Western
  • Cardiomyopathies / pathology
  • Carrier Proteins / genetics*
  • Cell Division
  • Cell Line
  • Culture Media, Serum-Free / pharmacology
  • Cytoskeleton / metabolism
  • Endocytosis*
  • Fibroblasts / metabolism
  • Immunohistochemistry
  • Macrophages
  • Mice
  • Models, Genetic
  • Muscle, Skeletal / cytology
  • Muscle, Skeletal / ultrastructure
  • Muscles / cytology*
  • Muscles / metabolism
  • Muscles / ultrastructure
  • Mutagenesis, Site-Directed
  • Nerve Tissue Proteins*
  • Nuclear Proteins / genetics*
  • Phagocytosis
  • Polymerase Chain Reaction
  • Protein Isoforms
  • Protein Structure, Tertiary
  • Time Factors
  • Tumor Suppressor Proteins / genetics*

Substances

  • Actins
  • Adaptor Proteins, Signal Transducing
  • Bin1 protein, mouse
  • Carrier Proteins
  • Culture Media, Serum-Free
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Protein Isoforms
  • Tumor Suppressor Proteins