SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat

Cell. 1995 Sep 22;82(6):937-48. doi: 10.1016/0092-8674(95)90273-2.

Abstract

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant inherited disorder characterized by degeneration of cerebellar Purkinje cells, spinocerebellar tracts, and selective brainstem neurons owing to the expansion of an unstable CAG trinucleotide repeat. To gain insight into the pathogenesis of the SCA1 mutation and the intergenerational stability of trinucleotide repeats in mice, we have generated transgenic mice expressing the human SCA1 gene with either a normal or an expanded CAG tract. Both transgenes were stable in parent to offspring transmissions. While all six transgenic lines expressing the unexpanded human SCA1 allele had normal Purkinje cells, transgenic animals from five of six lines with the expanded SCA1 allele developed ataxia and Purkinje cell degeneration. These data indicate that expanded CAG repeats expressed in Purkinje cells are sufficient to produce degeneration and ataxia and demonstrate that a mouse model can be established for neurodegeneration caused by CAG repeat expansions.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Ataxin-1
  • Ataxins
  • Base Sequence
  • Cerebellum / pathology
  • Disease Models, Animal*
  • Gene Expression / genetics
  • Immunohistochemistry
  • Mice
  • Mice, Transgenic / genetics*
  • Molecular Sequence Data
  • Nerve Degeneration / genetics
  • Nerve Tissue Proteins / genetics
  • Nuclear Proteins / genetics
  • Phenotype
  • Purkinje Cells / physiology
  • RNA, Messenger / analysis
  • Repetitive Sequences, Nucleic Acid / genetics*
  • Spinocerebellar Degenerations / genetics*

Substances

  • ATXN1 protein, human
  • Ataxin-1
  • Ataxins
  • Atxn1 protein, mouse
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • RNA, Messenger