In silico identification of pseudo-exon activation events in personal genome and transcriptome data

Narumi Sakaguchi, Mikita Suyama

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)


Causative mutations for human genetic disorders have mainly been identified in exonic regions that code for amino acid sequences. Recently, however, it has been reported that mutations in deep intronic regions can also cause certain human genetic disorders by creating novel splice sites, leading to pseudo-exon activation. To investigate how frequently pseudo-exon activation events occur in normal individuals, we conducted in silico identification of such events using personal genome data and corresponding high-quality transcriptome data. With rather stringent conditions, on average, 2.6 pseudo-exon activation events per individual were identified. More pseudo-exon activation events were found in 5' donor splice sites than in 3' acceptor splice sites. Although pseudo-exon activation events have sporadically been reported as causative mutations in genetic disorders, it is revealed in this study that such events can be observed in normal individuals at a certain frequency. We estimate that human genomes typically contain on average at least 10 pseudo-exon activation events. The actual number should be higher than this, because we used stringent criteria to identify pseudo-exon activation events. This suggests that it is worth considering the possibility of pseudo-exon activation when searching for causative mutations of genetic disorders if candidate mutations are not identified in coding regions or RNA splice sites.

Original languageEnglish
Pages (from-to)1-9
Number of pages9
JournalRNA biology
Publication statusE-pub ahead of print - Aug 30 2020


Dive into the research topics of 'In silico identification of pseudo-exon activation events in personal genome and transcriptome data'. Together they form a unique fingerprint.

Cite this