Evidence for the dissemination of cryptic non-coding RNAs transcribed from intronic and intergenic segments by retroposition.

Abstract

Insertion of DNA segments is one mechanism by which genomes evolve. The bulk of genomic segments are now known to be transcribed into long and short non-coding RNAs (ncRNAs), promoter-associated transcripts and enhancer-templated transcripts. These various cryptic ncRNAs are thought to be dispersed in the human and other genomes by retroposition. In this study, I report clear evidence for dissemination of cryptic ncRNAs transcribed from intronic and intergenic segments by retroposition. I used highly stringent conditions to find recently retroposed ncRNAs that had a poly(A) tract and were flanked by target site duplication. I identified 73 instances of retroposition in the human, mouse, and rat genomes (12, 36 and 25 instances, respectively). The inserted segments, in some cases, served as a novel exon or promoter for the associated gene, resulting in novel transcript variants. Some disseminated sequences showed sequence conservation across animals, implying a possible regulatory role. My results indicate that retroposition is one of the mechanisms for dispersion of ncRNAs. I propose that these newly inserted segments may play a role in genome evolution by potentially functioning as novel exons, promoters or enhancers. Supplementary data are available at Bioinformatics online.