Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/67528

TitleThe (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls
Author(s)Bettencourt, Conceição
Santos, Cristina
Montiel, Rafael
Kay, Teresa
Vasconcelos, João
Maciel, P.
Lima, Manuela
KeywordsAdult
Alleles
Ataxin-3
Case-Control studies
DNA
Gene expression regulation
Humans
Machado-Joseph disease
Nerve tissue proteins
Nuclear proteins
RNA, Messenger
Repressor proteins
Trinucleotide repeat expansion
MJD
SCA3
CAG repeats
transcript variation
polyglutamine disorders
Issue dateMay-2010
PublisherSpringer Nature
JournalEuropean Journal of Human Genetics
Abstract(s)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 (approximately 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.
TypeArticle
URIhttp://hdl.handle.net/1822/67528
DOI10.1038/ejhg.2009.215
ISSN1018-4813
e-ISSN1476-5438
Publisher versionhttps://www.nature.com/articles/ejhg2009215
Peer-Reviewedyes
AccessOpen access
Appears in Collections:ICVS - Artigos em revistas internacionais / Papers in international journals

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