The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1

Nat Genet. 1995 Jul;10(3):301-6. doi: 10.1038/ng0795-301.


Dystonia musculorum (dt) is a hereditary neurodegenerative disease in mice that leads to a sensory ataxia. We describe cloning of a candidate dt gene, dystonin, that is predominantly expressed in the dorsal root ganglia and other sites of neurodegeneration in dt mice. Dystonin encodes an N-terminal actin binding domain and a C-terminal portion comprised of the hemidesmosomal protein, bullous pemphigoid antigen 1 (bpag1). dt and bpag1 are part of the same transcription unit which is partially deleted in a transgenic strain of mice, Tg4, that harbours an insertional mutation at the dt locus, and in mice that carry a spontaneous dt mutation, dtAlb. We also demonstrate abnormal dystonin transcripts in a second dt mutant, dt24J. We conclude that mutations in the dystonin gene are the primary genetic lesion in dt mice.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Autoantigens / genetics*
  • Base Sequence
  • Carrier Proteins*
  • Collagen*
  • Cytoskeletal Proteins / genetics*
  • DNA, Complementary / genetics
  • Dystonia Musculorum Deformans / genetics*
  • Dystonia Musculorum Deformans / immunology
  • Dystonin
  • Gene Expression
  • Humans
  • In Situ Hybridization
  • Mice
  • Mice, Transgenic
  • Molecular Sequence Data
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Non-Fibrillar Collagens*
  • Pemphigoid, Bullous / genetics
  • Pemphigoid, Bullous / immunology*
  • Sequence Homology, Amino Acid
  • Species Specificity
  • Transcription, Genetic


  • Autoantigens
  • Carrier Proteins
  • Cytoskeletal Proteins
  • DNA, Complementary
  • DST protein, human
  • Dst protein, mouse
  • Dystonin
  • Nerve Tissue Proteins
  • Non-Fibrillar Collagens
  • collagen type XVII
  • Collagen

Associated data

  • GENBANK/U22452
  • GENBANK/U25158