Cloning and characterization of the neural isoforms of human dystonin

Genomics. 1995 Oct 10;29(3):777-80. doi: 10.1006/geno.1995.9936.


Dystonia musculorum (dt) is a hereditary neurodegenerative disease in mice that leads to a sensory ataxia. We have identified and cloned a gene encoded at the dt locus. The product of the dt gene, dystonin, is a neural isoform of a hemidesmosomal protein bullous pemphigoid antigen 1 (bpag1). To investigate the potential role of dystonin in human neuropathies, we have cloned the neural-specific 5' exons of the human DT gene that together with the previously cloned BPAG1 sequences comprise human dystonin. The mouse and human dystonin genes demonstrate the same spectrum of alternatively spliced products, and the amino acid sequences of the neural-specific exons in the mouse and human genes are over 96% identical.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Ataxia / genetics
  • Autoantigens / genetics*
  • Base Sequence
  • Carrier Proteins*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 6
  • Cloning, Molecular
  • Collagen*
  • Cytoskeletal Proteins / biosynthesis*
  • Cytoskeletal Proteins / genetics*
  • Dystonia / genetics*
  • Dystonin
  • Humans
  • Mice
  • Molecular Sequence Data
  • Nerve Tissue Proteins / biosynthesis*
  • Nerve Tissue Proteins / genetics*
  • Non-Fibrillar Collagens*
  • Sequence Homology, Amino Acid


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

Associated data

  • GENBANK/U31850
  • GENBANK/U31851