Article
Biased exon/intron distribution of cryptic and de novo 3' splice sites.
Nucleic acids research - 1 Jan 2005
Královicová Jana, Christensen Mikkel B, Vorechovský Igor
Abstract excerpt
We compiled sequences of previously published aberrant 3' splice sites (3'ss) that were generated by mutations in human disease genes. Cryptic 3'ss, defined here as those resulting from a mutation of the 3'YAG consensus, were more frequent in exons than in introns. They clustered in approximately 20 nt region adjacent to authentic 3'ss, suggesting that their under-representation in introns is due to a depletion...
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