Dystonin is essential for maintaining neuronal cytoskeleton organization

Mol Cell Neurosci. 1998 Apr;10(5-6):243-57. doi: 10.1006/mcne.1997.0660.

Abstract

The mouse neurological mutant dystonia musculorum (dt) suffers from a hereditary sensory neuropathy. We have previously described the cloning and characterization of the dt gene, which we named dystonin (Dst). We had shown that dystonin is a neural isoform of bullous pemphigoid antigen 1 (Bpag1) with an N-terminal actin-binding domain. It has been shown previously that dystonin is a cytoskeletal linker protein, forming a bridge between F-actin and intermediate filaments. Here, we have used two different antibody preparations against dystonin and detected a high-molecular-weight protein in immunoblot analysis of spinal cord extracts. We also show that this high-molecular-weight protein was not detectable in the nervous system of all dt alleles tested. Immunohistochemical analysis revealed that dystonin was present in different compartments of neurons--cell bodies, dendrites, and axons, regions which are rich in the three elements of the cytoskeleton (F-actin, neurofilaments, and microtubules). Ultrastructural analysis of dt dorsal root axons revealed disorganization of the neurofilament network and surprisingly also of the microtubule network. In this context it is of interest that we observed altered levels of the microtubule-associated proteins MAP2 and tau in spinal cord neurons of different dt alleles. Finally, dt dorsal root ganglion neurons formed neurites in culture, but the cytoskeleton was disorganized within these neurites. Our results demonstrate that dystonin is essential for maintaining neuronal cytoskeleton integrity but is not required for establishing neuronal morphology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Newborn
  • Carrier Proteins / genetics
  • Carrier Proteins / physiology
  • Cells, Cultured
  • Cytoskeletal Proteins / genetics
  • Cytoskeletal Proteins / immunology
  • Cytoskeletal Proteins / physiology*
  • Cytoskeleton / metabolism
  • Cytoskeleton / pathology
  • Cytoskeleton / physiology*
  • Dystonin
  • Ganglia, Spinal / pathology
  • Immune Sera / chemistry
  • Immunohistochemistry
  • Mice
  • Mice, Neurologic Mutants
  • Microtubule-Associated Proteins / metabolism
  • Molecular Weight
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / immunology
  • Nerve Tissue Proteins / physiology*
  • Nervous System / metabolism
  • Neurons / physiology*
  • Organ Specificity
  • Rats

Substances

  • Carrier Proteins
  • Cytoskeletal Proteins
  • Dst protein, mouse
  • Dystonin
  • Immune Sera
  • Microtubule-Associated Proteins
  • Nerve Tissue Proteins