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

Gene. 2015 May 1;561(2):283-91. doi: 10.1016/j.gene.2015.02.052. Epub 2015 Feb 19.


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 loci, 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.

Keywords: Alu; Mobile element; Retrotransposon; TSD-TSD recombination; Target site.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alu Elements*
  • Animals
  • Computational Biology / methods*
  • Genome, Human
  • Genomic Instability
  • Homologous Recombination
  • Humans
  • Primates / genetics
  • Sequence Analysis, DNA
  • Species Specificity
  • Tandem Repeat Sequences*