Characterization of dominant and recessive assembly-defective mutations in mouse neurofilament NF-M

J Cell Biol. 1990 Nov;111(5 Pt 1):1987-2003. doi: 10.1083/jcb.111.5.1987.

Abstract

We have generated a set of amino- and carboxy-terminal deletions of the neurofilament NF-M gene and determined the molecular consequences of forced expression of these mutant constructs in mouse fibroblasts. To follow the expression of mutant NF-M subunits in transfected cells, a 12 amino acid epitope (from the human c-myc protein) was expressed at the carboxy terminus of each mutant. We show that NF-M molecules missing up to 90 or 70% of the nonhelical carboxy-terminal tail or amino-terminal head domains, respectively, incorporate readily into an intermediate filament network comprised either of vimentin or NF-L, whereas deletions into either the amino- or carboxy-terminal alpha-helical rod region generate assembly-incompetent polypeptides. Carboxy-terminal deletions into the rod domain invariably yield dominant mutants which rapidly disrupt the array of filaments comprised of NF-L or vimentin. Accumulation of these mutant NF-M subunits disrupts vimentin filament arrays even when present at approximately 1% the level of the wild-type subunits. In contrast, the amino-terminal deletions into the rod produce pseudo-recessive mutants that perturb the wild-type NF-L or vimentin arrays only modestly. The inability of such amino-terminal mutants to disrupt wild-type subunits defines a region near the amino-terminal alpha-helical rod domain (residues 75-126) that is required for the earliest steps in filament assembly.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Chromosome Deletion
  • Intermediate Filament Proteins / chemistry*
  • Intermediate Filament Proteins / genetics
  • Intermediate Filament Proteins / metabolism
  • Intermediate Filaments / chemistry*
  • Intermediate Filaments / metabolism
  • Intermediate Filaments / ultrastructure
  • L Cells
  • Mice
  • Molecular Sequence Data
  • Neurofilament Proteins
  • Structure-Activity Relationship
  • Time Factors
  • Transfection
  • Vimentin / physiology

Substances

  • Intermediate Filament Proteins
  • Neurofilament Proteins
  • Vimentin