Genome-wide target site triplication of Alu elements in the human genome

被引:4
作者
Lee, Wooseok [1 ,2 ]
Mun, Seyoung [1 ,2 ,3 ]
Kang, Keunsoo [4 ]
Hennighausen, Lothar [3 ]
Han, Kyudong [1 ,2 ,5 ]
机构
[1] Dankook Univ, Dept Nanobiomed Sci, Cheonan 330714, South Korea
[2] Dankook Univ, PLUS NBM Global Res Ctr Regenerat Med BK21, Cheonan 330714, South Korea
[3] NIDDK, NIH, Lab Genet & Physiol, Bethesda, MD 20892 USA
[4] Dankook Univ, Dept Microbiol, Cheonan 330714, South Korea
[5] DKU Theragen Inst NGS Anal DTiNa, Cheonan 330714, South Korea
关键词
Target site; Alu; Mobile element; Retrotransposon; TSD-TSD recombination; INSERTION; DELETIONS;
D O I
10.1016/j.gene.2015.02.052
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Alu elements are the most successful short interspersed elements in primate genomes and their retrotransposition is a major source of genomic expansion. Alu elements integrate into genomic regions through target-site primed reverse transcription, which generates target site duplications (TSDs). Unexpectedly, we have identified target site triplications (TSTs) at some lad, where two Alu elements in tandem share one direct repeat. Thus, the three copies of the repeat are present. We located 212 TST loci in the human genome and examined 25 putative human-specific TST loci using PCR validation. As a result, 12 human-specific TST loci were identified. These findings suggest that unequal homologous recombination between TSDs can lead to TST. Through this mechanism, the copy number of Alu elements could have increased in primate genomes without new Alu retrotransposition events. This study provides new insight into the augmentation of Alu elements in the primate genome. (C) 2015 Elsevier B.V. All rights reserved.
引用
收藏
页码:283 / 291
页数:9
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