The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): A comparison between DNA and mRNA in patients and controls

Conceiço Bettencourt*, Cristina Santos, Rafael Montiel, Teresa Kay, Joo Vasconcelos, Patrícia MacIel, Manuela Lima

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

15 Citations (Scopus)


Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of late onset (occurring at a mean age of 40.2 years). The clinical manifestation of MJD is dependent on the presence of an expansion of the (CAG)n motif within exon 10 of the ATXN3 gene, located at 14q32.1. The variance in onset of MJD is only partially correlated (∼ 50-80%) with the extension of the CAG tract in genomic DNA (gDNA). The main aim of this work was to determine whether there are discrepancies in the size of the (CAG) n tract between gDNA and mRNA, and to establish whether there is a better association between age at onset and repeat size at the mRNA level. We typed gDNA and cDNA samples for the (CAG)n tract totalizing 108 wild-type and 52 expanded ATXN3 alleles. In wild-type alleles no differences were found between gDNA and cDNA. In expanded alleles, the CAG repeat size in gDNA was not always directly transcribed into the mRNA; on average there were differences of 1 repeat at the cDNA level. The slight discrepancies obtained were insufficient to cause significant differences in the distribution of the expanded alleles, and therefore no improvement in onset variance explanation was obtained with mRNA. © 2010 Macmillan Publishers Limited All rights reserved.
Original languageEnglish
Pages (from-to)621-623
Number of pages3
JournalEuropean Journal of Human Genetics
Issue number5
Publication statusPublished - 1 May 2010


  • CAG repeats
  • MJD
  • Polyglutamine disorders
  • SCA3
  • Transcript variation


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