Article
Transcript diversity of Machado-Joseph disease gene (ATXN3) is not directly determined by SNPs in exonic or flanking intronic regions.
Journal of molecular neuroscience : MN - 1 Mar 2013
Bettencourt Conceição, Raposo Mafalda, Ros Raquel, Montiel Rafael, Bruges-Armas Jácome, Lima Manuela
Abstract excerpt
Alternative splicing (AS) of pre-mRNA is an important regulatory mechanism that enables one gene to produce multiple mature transcripts and, therefore, multiple protein isoforms. Besides the information content of core splicing signals, additional cis-regulatory elements (splicing enhancers and silencers) are needed to precisely define exons. AS is well documented in ATXN3 gene, which encodes for ataxin-3 and,...
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