Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat.

@article{Ambrose1994StructureAE,
  title={Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat.},
  author={Christine M. Ambrose and Mabel P. Duyao and Glenn Barnes and Gillian P Bates and C. S. Lin and J. Srinidhi and Sarah Baxendale and Holger Hummerich and Hans Lehrach and Michael Altherr},
  journal={Somatic cell and molecular genetics},
  year={1994},
  volume={20 1},
  pages={27-38}
}
Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expanded, unstable trinucleotide repeat in a novel 4p16.3 gene. To lay the foundation for exploring the pathogenic mechanism in HD, we have determined the structure of the disease gene and examined its expression. The HD locus spans 180 kb and consists of 67 exons ranging in size from 48 bp to 341 bp with an average of 138 bp. Scanning of the HD transcript failed to reveal any… CONTINUE READING