Rescue of cardiac alpha-actin-deficient mice by enteric smooth muscle gamma-actin

Proc Natl Acad Sci U S A. 1997 Apr 29;94(9):4406-11. doi: 10.1073/pnas.94.9.4406.

Abstract

The muscle actins in higher vertebrates display highly conserved amino acid sequences, yet they show distinct expression patterns. Thus, cardiac alpha-actin, skeletal alpha-actin, vascular smooth muscle alpha-actin, and enteric smooth muscle gamma-actin comprise the major actins in their respective tissues. To assess the functional and developmental significance of cardiac alpha-actin, the murine (129/SvJ) cardiac alpha-actin gene was disrupted by homologous recombination. The majority ( approximately 56%) of the mice lacking cardiac alpha-actin do not survive to term, and the remainder generally die within 2 weeks of birth. Increased expression of vascular smooth muscle and skeletal alpha-actins is observed in the hearts of newborn homozygous mutants and also heterozygotes but apparently is insufficient to maintain myofibrillar integrity in the homozygous mutants. Mice lacking cardiac alpha-actin can be rescued to adulthood by the ectopic expression of enteric smooth muscle gamma-actin using the cardiac alpha-myosin heavy chain promoter. However, the hearts of such rescued cardiac alpha-actin-deficient mice are extremely hypodynamic, considerably enlarged, and hypertrophied. Furthermore, the transgenically expressed enteric smooth muscle gamma-actin reduces cardiac contractility in wild-type and heterozygous mice. These results demonstrate that alterations in actin composition in the fetal and adult heart are associated with severe structural and functional perturbations.

MeSH terms

  • Actins / genetics*
  • Animals
  • Genes, Lethal*
  • Genetic Complementation Test*
  • Heart / physiology*
  • Heart Function Tests
  • Heterozygote
  • Homozygote
  • Intestine, Small / chemistry
  • Mice
  • Mice, Mutant Strains
  • Muscle, Smooth / chemistry
  • Myocardial Contraction
  • Myocardium / pathology
  • Recombinant Proteins / biosynthesis
  • Tissue Distribution

Substances

  • Actins
  • Recombinant Proteins