cDNA cloning and characterization of an Atrophin-1 (DRPLA disease gene)-related protein

Farhat A. Khan, Russell L. Margolis, Scott L. Loev, Alan H. Sharp, Shi Hua Li, Christopher A. Ross

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Dentatorubral and pallidoluylsian atrophy (DRPLA) is a progressive neurological disorder characterized by neuronal degeneration, especially in the cerebellar dentate nucleus. DRPLA is caused by an unstable expansion of a CAG trinucleotide repeat coding for glutamine in a gene of unknown function, termed atrophin-1, located on chromosome 12. To gain additional understanding of atrophin-1, we have isolated a second member of the atrophin-1 gene family by screening rat cDNA libraries. The 1006-amino-acid product of this gene, which we have termed rat atrophin related protein(rARP), does not contain a glutamine repeat, but it does contain two regions of alternating acidic and basic amino residues similar to those found in atrophin-1. rARP is widely expressed as both a 7.4- and a 9.4-kb message, with enrichment in cerebellum and testis. Like atrophin-1, the rARP in vitro translation product migrates more slowly on SDS-polyacrylamide gel electrophoresis than predicted by molecular weight. We conclude that, at least in the rat, polyglutamine is not an essential feature of the atrophin family of genes.

Original languageEnglish (US)
Pages (from-to)121-128
Number of pages8
JournalNeurobiology of Disease
Issue number2
StatePublished - Apr 1996

ASJC Scopus subject areas

  • Neurology


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