Article
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.
PLoS genetics - 7 Oct 2010
Hinzpeter Alexandre, Aissat Abdel, Sondo Elvira, Costa Catherine, Arous Nicole, Gameiro Christine, Martin Natacha, Tarze Agathe, Weiss Laurence, de Becdelièvre Alix, Costes Bruno, Goossens Michel, Galietta Luis J, Girodon Emmanuelle, Fanen Pascale
Abstract excerpt
Approximately 30% of alleles causing genetic disorders generate premature termination codons (PTCs), which are usually associated with severe phenotypes. However, bypassing the deleterious stop codon can lead to a mild disease outcome. Splicing at NAGNAG tandem splice sites has been reported to result in insertion or deletion (indel) of three nucleotides. We identified such a mechanism as the origin of the mild...
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