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

Title
Gain of a new exon by a lineage-specific Alu element-integration event in the BCS1L gene during primate evolution
Authors
Park S.-J.Kim Y.-H.Lee S.-R.Choe S.-H.Kim M.-J.Kim S.-U.Kim J.-S.Sim B.-W.Song B.-S.Jeong K.-J.Jin Y.-B.Lee Y.Park Y.-H.Park Y.I.Huh J.-W.Chang K.-T.
Ewha Authors
박영일
SCOPUS Author ID
박영일scopus
Issue Date
2015
Journal Title
Molecules and Cells
ISSN
1016-8478JCR Link
Citation
vol. 38, no. 11, pp. 950 - 958
Keywords
Alternative splicingAluYRa2BCS1LExonizationTransposable Element
Publisher
Korean Society for Molecular and Cellular Biology
Indexed
SCI; SCIE; SCOPUS; KCI WOS scopus
Abstract
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. © The Korean Society for Molecular and Cellular Biology. All rights reserved.
DOI
10.14348/molcells.2015.0121
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신산업융합대학 > 융합콘텐츠학과 > Journal papers
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