FEBS Letters · 2006 · 69 citations · 22 references
Life SciencesGeneticsMolecular BiologyGene ExpressionGenomicsRna ProcessingAlternative SplicingEnhancer ArchitectureExon-intron OrganizationRna SplicingExon Splicing EnhancersExonic Splice EnhancersExonic Splicing EnhancersSplicing ControlSplicing-dependent Gene Regulation
We have studied the splicing regulation of NF1 exons 36 and 37. We show that they not only require an intact exonic Splicing Enhancer (ESE) within exon 37, but also need the genomic region stretching from exons 31 to 38. Any nucleotide change in two exon 37 third codon positions disrupts the ESE. The extent of exons 36 and 37 skipping due to a mutated ESE depends on the genomic context. This is a unique example of what may be a more general phenomena involved in the tuning of pre-mRNA processing and gene expression modulation in the chromosomal setting.
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Predictive Identification of Exonic Splicing Enhancers in Human Genes
William G. Fairbrother, Ru‐Fang Yeh, Phillip A. Sharp et al. · Science · 2002 · 1K citations
A new type of mutation causes a splicing defect in ATM
Emanuele Buratti, Cristiana Stuani, Regina Bendix et al. · Nature Genetics · 2002 · 217 citations