Presentation Information
[PE2-10]Comprehensive identification of exon extension/shrinkage events induced by splice-site-creating mutations
○Zhuo Qu1, Narumi Sakaguchi1, Chie Kikutake2, Mikita Suyama2 (1.Division of Bioinformatics, Graduate School of Systems Life Sciences, Kyushu University, Fukuoka, Japan, 2.Division of Bioinformatics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan)
Mutations that affect phenotypes have been identified primarily as those that directly alter amino acid sequences or disrupt splice sites. However, some mutations that are not located in functionally important sites can also affect phenotypes. Splice-site-creating mutations (SCMs) are those types of mutations that create a novel splice site at a locus that is not normally present. There are some studies that have systematically identified and analyzed the impact of SCMs in disease samples. In addition, it is worth noting that a certain number of such mutations have been demonstrated even in healthy samples, but only pseudo-exon activations that are induced by SCMs occurring in deep intronic regions were analyzed in the previous study, and those occurring near or within exons, which lead to exon extension/shrinkage events, have not been analyzed so far.
In this study, we used personal genome sequencing data and transcriptome data of the corresponding individuals to identify exon extension/shrinkage events in healthy individuals. We identified 371 exon extension/shrinkage events in these healthy individuals, and this number was about three times higher than the number of pseudo-exon activation events identified in the previous study. In addition, we evaluated the impact of SCMs on the resulting transcripts and their protein products. Our results indicate that a certain fraction of SCMs identified in this study may have the potential to be possible novel candidates for pathogenic mutations by creating novel splice sites.
In this study, we used personal genome sequencing data and transcriptome data of the corresponding individuals to identify exon extension/shrinkage events in healthy individuals. We identified 371 exon extension/shrinkage events in these healthy individuals, and this number was about three times higher than the number of pseudo-exon activation events identified in the previous study. In addition, we evaluated the impact of SCMs on the resulting transcripts and their protein products. Our results indicate that a certain fraction of SCMs identified in this study may have the potential to be possible novel candidates for pathogenic mutations by creating novel splice sites.