Gain of a new exon by a lineage-specific Alu element-integration event in the BCS1L gene during primate evolution

Sang Je Park, Young Hyun Kim, Sang Rae Lee, Se Hee Choe, Myung Jin Kim, Sun Uk Kim, Ji Su Kim, Bo Woong Sim, Bong Seok Song, Kang Jin Jeong, Yeung Bae Jin, Youngjeon Lee, Young Ho Park, Young Il Park, Jae Won Huh, Kyu Tae Chang

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


BCS1L gene encodes mitochondrial protein and is a member of conserved AAA protein family. This gene is involved in the incorporation of Rieske FeS and Qcr10p into complex III of respiratory chain. In our previous study, AluYRa2-derived alternative transcript in rhesus monkey genome was identified. However, this transcript has not been reported in human genome. In present study, we conducted evolutionary analysis of AluYRa2-exonized transcript with various primate genomic DNAs and cDNAs from humans, rhesus monkeys, and crabeating monkeys. Remarkably, our results show that AluYRa2 element has only been integrated into genomes of Macaca species. This Macaca lineage-specific integration of AluYRa2 element led to exonization event in the first intron region of BCS1L gene by producing a conserved 3′ splice site. Intriguingly, in rhesus and crabeating monkeys, more diverse transcript variants by alternative splicing (AS) events, including exon skipping and different 5′ splice sites from humans, were identified. Alignment of amino acid sequences revealed that AluYRa2-exonized transcript has short N-terminal peptides. Therefore, AS events play a major role in the generation of various transcripts and proteins during primate evolution. In particular, lineage-specific integration of Alu elements and species-specific Alu-derived exonization events could be important sources of gene diversification in primates.

Original languageEnglish
Pages (from-to)950-958
Number of pages9
JournalMolecules and Cells
Issue number11
StatePublished - 2015

Bibliographical note

Funding Information:
This research was supported by a grant from the Korea Research Institute of Bioscience and Biotechnology (KRIBB) Research Initiative Program (KGM4241541).

Publisher Copyright:
© The Korean Society for Molecular and Cellular Biology. All rights reserved.


  • Alternative splicing
  • AluYRa2
  • BCS1L
  • Exonization
  • Transposable Element


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