title: Distribution of exonic splicing enhancer elements in human genes.
abstract: Ab initio prediction of functional exon splicing enhancer (ESE) elements based on RNA sequences present a challenge in the evaluation of the functional impacts of human genetic polymorphisms on splicing. To better understand the behavior of ESEs, we studied their distribution in human exons and introns for four known SR protein-binding motifs: SF2/SAF, SC35, SRp40, and SRp55. ESEs are enriched in regions in exons that are close to the splice sites, especially in the region 80 to 120 bases away from the ends of splice acceptor sites. Significant enrichment of ESEs is associated with weak splice acceptor sites but not weak donor sites. ESE density decreases at the 3 ends of long exons. ESEs are also enriched in introns with weak donor or acceptor sites. These characteristics of ESEs may help to predict functional ESE sites in RNA sequences.
authors: Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
authors: Yongchun
authors: Y
authors: Wu
authors: Yongqing
authors: Y
authors: Zhang
authors: Jiong
authors: J
authors: Zhang
mesh_terms: D017398:Alternative Splicing; D019295:Computational Biology; D004274:DNA, Recombinant / Q000737:chemistry; D005091:Exons / Q000235:genetics*; D015894:Genome, Human; D006801:Humans; D007438:Introns / Q000235:genetics; D022821:RNA Splice Sites; D016601:RNA-Binding Proteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004274:DNA, Recombinant; D022821:RNA Splice Sites; D016601:RNA-Binding Proteins; D014157:Transcription Factors