Machado-Joseph disease gene products carrying different carboxyl termini

Neurosci Res. 1997 Aug;28(4):373-7. doi: 10.1016/s0168-0102(97)00056-4.


Three cDNA clones for the Machado-Joseph disease gene (MJD1) were isolated, two of which have a new exon sequence and a distinct 3' terminal nucleotide sequence resulting in a new carboxyl terminal domain in the translated product. The nucleotide sequence of the other one is similar to the previously published one except for five polymorphisms, one of which is a single nucleotide substitution resulting in a change from the stop codon (TAA; allele A) to a tyrosine residue (TAC; allele C). Genetic analysis results suggest that Japanese MJD mutations are associated with allele A.

Publication types

  • Review

MeSH terms

  • Amino Acid Sequence
  • Ataxin-3
  • Base Sequence
  • Codon / genetics
  • Humans
  • Machado-Joseph Disease / genetics
  • Machado-Joseph Disease / metabolism*
  • Molecular Sequence Data
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins
  • Polymorphism, Genetic
  • Repressor Proteins


  • Codon
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Repressor Proteins
  • ATXN3 protein, human
  • Ataxin-3

Associated data

  • GENBANK/U64820
  • GENBANK/U64821
  • GENBANK/U64822