Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin

J Cell Biol. 2000 Oct 16;151(2):235-48. doi: 10.1083/jcb.151.2.235.

Abstract

gamma-Filamin, also called ABP-L, is a filamin isoform that is specifically expressed in striated muscles, where it is predominantly localized in myofibrillar Z-discs. A minor fraction of the protein shows subsarcolemmal localization. Although gamma-filamin has the same overall structure as the two other known isoforms, it is the only isoform that carries a unique insertion in its immunoglobulin (Ig)-like domain 20. Sequencing of the genomic region encoding this part of the molecule shows that this insert is encoded by an extra exon. Transient transfections of the insert-bearing domain in skeletal muscle cells and cardiomyocytes show that this single domain is sufficient for targeting to developing and mature Z-discs. The yeast two-hybrid method was used to identify possible binding partners for the insert-bearing Ig-like domain 20 of gamma-filamin. The two Ig-like domains of the recently described alpha-actinin-binding Z-disc protein myotilin were found to interact directly with this filamin domain, indicating that the amino-terminal end of gamma-filamin may be indirectly anchored to alpha-actinin in the Z-disc via myotilin. Since defects in the myotilin gene were recently reported to cause a form of autosomal dominant limb-girdle muscular dystrophy, our findings provide a further contribution to the molecular understanding of this disease.

MeSH terms

  • Adult
  • Animals
  • Cell Differentiation
  • Connectin
  • Contractile Proteins / metabolism*
  • Cytoskeletal Proteins
  • DNA Transposable Elements
  • Exons
  • Filamins
  • Humans
  • Immunoglobulins
  • Ligands
  • Mice
  • Microfilament Proteins / metabolism*
  • Muscle Proteins / metabolism*
  • Muscle, Skeletal / cytology
  • Muscle, Skeletal / metabolism*
  • Muscular Dystrophies / etiology*
  • Myocardium / chemistry
  • Myofibrils / metabolism
  • Myofibrils / ultrastructure
  • Protein Binding
  • Protein Isoforms / metabolism
  • Protein Sorting Signals
  • Protein Structure, Tertiary
  • Stem Cells / chemistry
  • Two-Hybrid System Techniques

Substances

  • Connectin
  • Contractile Proteins
  • Cytoskeletal Proteins
  • DNA Transposable Elements
  • Filamins
  • Immunoglobulins
  • Ligands
  • MYOT protein, human
  • Microfilament Proteins
  • Muscle Proteins
  • Myot protein, mouse
  • Protein Isoforms
  • Protein Sorting Signals