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Updated: Jun 5, 2025

Real-Time Quantification of the Effects of IS200/IS605 Family-Associated TnpB on Transposon Activity
Published on: January 20, 2023
Transposable element exonization generates a reservoir of evolving and functional protein isoforms
Yago A Arribas1, Blandine Baudon1, Maxime Rotival2
1Institut Curie, PSL University, Inserm U932, Immunity and Cancer, 75005 Paris, France.
Transposable elements (TEs) can be spliced into new protein isoforms, adding to human proteome diversity. These functional, albeit lowly expressed, TE-spliced isoforms are conserved across individuals and may be shaped by natural selection.
Area of Science:
- Genomics
- Molecular Biology
- Evolutionary Biology
Background:
- Alternative splicing generates protein diversity, including via exonization of transposable elements (TEs).
- The biological relevance and proteomic contribution of unannotated TE-spliced transcripts remain largely unknown.
Purpose of the Study:
- To characterize a population of unannotated TE-exonizing isoforms generated by mRNA splicing.
- To investigate their prevalence, translation efficiency, and functional relevance in human populations.
Main Methods:
- Transcriptome assembly
- Ribosome profiling
- Proteomics
- Functional analyses
Main Results:
- Identified 1,227 unannotated TE-exonizing isoforms, recurrent in human populations.
- These isoforms are efficiently translated, stably expressed, and exhibit specific cellular localization, sometimes with modified functions.
- Exonized TEs are often ancient, associated with recent splice sites, and contribute to isoform secondary structure.
Conclusions:
- TE-spliced isoforms represent a significant reservoir of functional protein diversity.
- These isoforms are subject to natural selection, highlighting their evolutionary importance.
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