CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

Nat Genet. 1994 Nov;8(3):221-8. doi: 10.1038/ng1194-221.


We have identified a novel gene containing CAG repeats and mapped it to chromosome 14q32.1, the genetic locus for Machado-Joseph disease (MJD). In normal individuals the gene contains between 13 and 36 CAG repeats, whereas most of the clinically diagnosed patients and all of the affected members of a family with the clinical and pathological diagnosis of MJD show expansion of the repeat-number (from 68-79). Southern blot analyses and genomic cloning demonstrates the existence of related genes. These results raise the possibility that similar abnormalities in related genes may give rise to diseases similar to MJD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Ataxin-3
  • Base Sequence
  • Blotting, Southern
  • Chromosomes, Human, Pair 14*
  • Cloning, Molecular
  • Female
  • Genes
  • Humans
  • In Situ Hybridization, Fluorescence
  • Machado-Joseph Disease / genetics*
  • Male
  • Middle Aged
  • Minisatellite Repeats*
  • Molecular Sequence Data
  • Multigene Family
  • Nerve Tissue Proteins*
  • Nuclear Proteins
  • Pedigree
  • Proteins / genetics*
  • Repressor Proteins


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

Associated data

  • GENBANK/S75313