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Title 

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

Authors 

Sang Je ParkYoung-Hyun KimSang-Rae LeeSe Hee ChoeMyung Jin KimSun-Uk KimJi-Su KimBo Woong SimBong-Seok SongKang-Jin JeongYeung Bae JinYoungjeon LeeYoung-Ho ParkY I ParkJae Won HuhKyu Tae Chang

Publisher 

Springer Verlag (Germany)

Issue Date 

2015

Citation 

Molecules and Cells, vol. 38, no. 11, pp. 950-958

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.

ISSN 

1016-8478

Link 

http://dx.doi.org/10.14348/molcells.2015.0121.

Appears in Collections

1. Journal Articles > Journal Articles

Registered Date

2019-05-02


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