An ovine transgenic Huntington's disease model

Hum Mol Genet. 2010 May 15;19(10):1873-82. doi: 10.1093/hmg/ddq063. Epub 2010 Feb 13.

Abstract

Huntington's disease (HD) is an inherited autosomal dominant neurodegenerative disorder caused by an expansion of a CAG trinucleotide repeat in the huntingtin (HTT) gene [Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell, 72, 971-983]. Despite identification of the gene in 1993, the underlying life-long disease process and effective treatments to prevent or delay it remain elusive. In an effort to fast-track treatment strategies for HD into clinical trials, we have developed a new large-animal HD transgenic ovine model. Sheep, Ovis aries L., were selected because the developmental pattern of the ovine basal ganglia and cortex (the regions primarily affected in HD) is similar to the analogous regions of the human brain. Microinjection of a full-length human HTT cDNA containing 73 polyglutamine repeats under the control of the human promotor resulted in six transgenic founders varying in copy number of the transgene. Analysis of offspring (at 1 and 7 months of age) from one of the founders showed robust expression of the full-length human HTT protein in both CNS and non-CNS tissue. Further, preliminary immunohistochemical analysis demonstrated the organization of the caudate nucleus and putamen and revealed decreased expression of medium size spiny neuron marker DARPP-32 at 7 months of age. It is anticipated that this novel transgenic animal will represent a practical model for drug/clinical trials and surgical interventions especially aimed at delaying or preventing HD initiation. New sequence accession number for ovine HTT mRNA: FJ457100.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Genetically Modified / genetics*
  • Basal Ganglia / metabolism
  • Basal Ganglia / pathology
  • Chromosomes, Mammalian / genetics
  • Disease Models, Animal*
  • Dopamine and cAMP-Regulated Phosphoprotein 32 / metabolism
  • Female
  • Founder Effect
  • Humans
  • Huntingtin Protein
  • Huntington Disease / genetics*
  • Male
  • Nerve Tissue Proteins / genetics
  • Nuclear Proteins / genetics
  • Pedigree
  • Receptor, Cannabinoid, CB1 / metabolism
  • Sheep / genetics*
  • Transgenes / genetics

Substances

  • Dopamine and cAMP-Regulated Phosphoprotein 32
  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Receptor, Cannabinoid, CB1