Article
Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes.
Proceedings of the National Academy of Sciences of the United States of America - 5 Jul 2011
Lim Kian Huat, Ferraris Luciana, Filloux Madeleine E, Raphael Benjamin J, Fairbrother William G
Abstract excerpt
We present an intuitive strategy for predicting the effect of sequence variation on splicing. In contrast to transcriptional elements, splicing elements appear to be strongly position dependent. We demonstrated that exonic binding of the normally intronic splicing factor, U2AF65, inhibits splicing. Reasoning that the positional distribution of a splicing element is a signature of its function, we developed a...
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