Cloning and expression of the rat atrophin-i (drpla disease gene) homologue

Scott J. Loev, Russell L. Margolis, W. Scott Young, Shi Hua Li, Gabriele Schilling, Roxann G. Ashworth, Christopher A. Ross

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12 Scopus citations


Dentatorubral pallidoluysian atrophy (DRPLA) is a rare, progressive, fatal neuropsychiatric disorder similar to Huntington’s disease, caused by an expansion of a CAG trinucleotide repeat encoding glutamine. We have cloned the cDNA of the rat homologue of this gene. The cDNA contains a 3549 base pair open reading frame that is 88.2% identical to the human cDNA, with a predicted amino acid sequence that is 93.6% identical to the human sequence. The consecutive glutamine repeat is only five residues in length (normal range in human: 7-35 glutamines) and is followed by a polymorphic region of alternating glutamine and proline residues (QQQQQPQPQPQPQQ). The sequence also includes a polymorphic proline repeat, a serine repeat, and a region of alternating acidic and basic residues. Northern analysis and in situ hybridization indicate that the gene is widely expressed as a 4.5 kb mRNA, with a neuronal distribution in the brain. The widespread expression of this gene is consistent with the possibility that DRPLA, like other glutamine repeat diseases, is a result of an abnormality at the protein level.

Original languageEnglish (US)
Pages (from-to)129-138
Number of pages10
JournalNeurobiology of Disease
Issue number3
StatePublished - 1995


  • Expansion mutation
  • Glutamine
  • Glycollate
  • Huntington’s disease
  • Neurodegeneration
  • Sodium pentosan polysulphate

ASJC Scopus subject areas

  • Neurology


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