Genome-wide identification of exon extension/shrinkage events induced by splice-site-creating mutations

Zhuo Qu, Narumi Sakaguchi, Chie Kikutake, Mikita Suyama

Research output: Contribution to journalArticlepeer-review


Mutations that affect phenotypes have been identified primarily as those that directly alter amino acid sequences or disrupt splice sites. However, some mutations not located in functionally important sites can also affect phenotypes, such as splice-site-creating mutations (SCMs). To investigate how frequent exon extension/shrinkage events induced by SCMs occur in normal individuals, we used personal genome sequencing data and transcriptome data of the corresponding individuals and identified 371 exon extension/shrinkage events in normal individuals. This number was about three times higher than the number of pseudo-exon activation events identified in the previous study. The average numbers of exon extension and exon shrinkage events in each sample were 3.3 and 11.2, respectively. We also evaluated the impact of exon extension/shrinkage events on the resulting transcripts and their protein products and found that 40.2% of the identified events may have possible functional impacts by either generating premature termination codons in transcripts or affecting protein domains. Our results indicated that a certain fraction of SCMs identified in this study can be pathogenic mutations by creating novel splice sites.

Original languageEnglish
Pages (from-to)1143-1152
Number of pages10
JournalRNA biology
Issue number1
Publication statusPublished - 2022

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Cell Biology


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