title: Gain of a New Exon by a Lineage-Specific Alu Element-Integration Event in the BCS1L Gene during Primate Evolution.
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 crab-eating 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 crab-eating 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.
authors.affiliation: National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.
authors.forename: Sang-Je
authors.initials: SJ
authors.lastname: Park
authors.affiliation: National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.|University of Science & Technology, National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.
authors.forename: Young-Hyun
authors.initials: YH
authors.lastname: Kim
authors.affiliation: National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.|University of Science & Technology, National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.
authors.forename: Sang-Rae
authors.initials: SR
authors.lastname: Lee
authors.affiliation: National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.|University of Science & Technology, National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.
authors.forename: Se-Hee
authors.initials: SH
authors.lastname: Choe
authors.affiliation: National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.
authors.forename: Myung-Jin
authors.initials: MJ
authors.lastname: Kim
authors.affiliation: National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.
authors.forename: Sun-Uk
authors.initials: SU
authors.lastname: Kim
authors.affiliation: National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.
authors.forename: Ji-Su
authors.initials: JS
authors.lastname: Kim
authors.affiliation: National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.
authors.forename: Bo-Woong
authors.initials: BW
authors.lastname: Sim
authors.affiliation: National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.
authors.forename: Bong-Seok
authors.initials: BS
authors.lastname: Song
authors.affiliation: National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.
authors.forename: Kang-Jin
authors.initials: KJ
authors.lastname: Jeong
authors.affiliation: National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.
authors.forename: Yeung-Bae
authors.initials: YB
authors.lastname: Jin
authors.affiliation: National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.
authors.forename: Youngjeon
authors.initials: Y
authors.lastname: Lee
authors.affiliation: National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.
authors.forename: Young-Ho
authors.initials: YH
authors.lastname: Park
authors.affiliation: Graduate School Department of Digital Media, Ewha Womans University, Seoul 120-750, Korea.
authors.forename: Young Il
authors.initials: YI
authors.lastname: Park
authors.affiliation: National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.|University of Science & Technology, National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.
authors.forename: Jae-Won
authors.initials: JW
authors.lastname: Huh
authors.affiliation: National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.|University of Science & Technology, National Primate Research Center, Korea Research Institute of Bioscience and Biotechnology, Cheongju 363-883, Korea.
authors.forename: Kyu-Tae
authors.initials: KT
authors.lastname: Chang
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D017398:Alternative Splicing; D020087:Alu Elements; D000818:Animals; D001483:Base Sequence; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D014450:Electron Transport Complex III / Q000235:genetics*; D019143:Evolution, Molecular; D005091:Exons / Q000235:genetics*; D005260:Female; D015894:Genome, Human; D006801:Humans; D007438:Introns / Q000235:genetics; D008252:Macaca fascicularis / Q000235:genetics; D008253:Macaca mulatta / Q000235:genetics; D024101:Mitochondrial Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D011323:Primates / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C435491:BCS1L protein, human; D024101:Mitochondrial Proteins; D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III
keywords: AluYRa2; BCS1L; alternative splicing; exonization; transposable element