Figure 3

Allele-specific splicing evidence in the OAS1 based on exon array analysis. Support for allele-specific acceptor site use in the OAS1 gene. (A) Genomic sequence of OAS1 showing the alternatively spliced exons. The boxed section is magnified and drawn to scale in the next panel. (B) Relationship between the genotypes of the SNP and splicing indices of nearby probesets, illustrating that there is likely to be a complex pattern of allele-specific splicing in this gene. Probesets in red are significantly associated with the SNP genotype. The p-values for the association of these probesets to SNP genotypes are also included. Unfilled rectangles represent probesets that were not tested for an association with the genotype because they were not detected above background in a sufficient number of the cell lines, or were too distant from the SNP. (C) Histograms showing the splicing index distribution as a function of the genotype of a SNP, rs10774671, at the G nucleotide of the canonical splice acceptor site. (D) Association plot illustrating that rs10774671 is more strongly associated with a probeset between the SNP and an alternative acceptor site than any other SNP in the region for which genotype data were available.