The membrane-cytoskeleton interface: the role of dystrophin and utrophin

J Muscle Res Cell Motil. 1997 Dec;18(6):617-29. doi: 10.1023/a:1018627705273.

Abstract

Recent studies with transgenic animals have considerably advanced our knowledge of the roles of dystrophin and utrophin in both muscle and non-muscle tissues. Rigorous analyses of the roles of the various mdx mutations in mice, as well as the use of artificial transgenes in an mdx background, are beginning to define the functional importance of various regions of the dystrophin protein in normal muscle. Furthermore, recent biochemical analyses have revealed new insights into the role and organization of dystrophin at the membrane-cytoskeleton interface. Transgenic approaches have also revealed surprising and encouraging results with respect to utrophin. Against expectations, the long-awaited utrophin knockout mice have a remarkably mild phenotype with only subtle changes in neuromuscular junction architecture. On the other hand, mdx mice transgenic for a mini-utrophin construct showed rescue of the muscular dystrophy phenotype, clearly an encouraging finding with obvious therapeutic possibilities. These and other recent findings are discussed in the context of the structure and function of dystrophin and utrophin at the membrane-cytoskeleton interface.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Cell Membrane / chemistry
  • Cell Membrane / metabolism*
  • Cytoskeletal Proteins / genetics
  • Cytoskeletal Proteins / physiology
  • Cytoskeleton / chemistry
  • Cytoskeleton / metabolism*
  • Dystrophin / genetics
  • Dystrophin / physiology
  • Membrane Proteins / genetics
  • Membrane Proteins / physiology
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Molecular Sequence Data
  • Sequence Homology, Amino Acid
  • Structure-Activity Relationship
  • Utrophin

Substances

  • Cytoskeletal Proteins
  • Dystrophin
  • Membrane Proteins
  • Utrn protein, mouse
  • Utrophin