The role of recombination in the origin and evolution of Alu subfamilies

PLoS One. 2013 Jun 4;8(6):e64884. doi: 10.1371/journal.pone.0064884. Print 2013.

Abstract

Alus are the most abundant and successful short interspersed nuclear elements found in primate genomes. In humans, they represent about 10% of the genome, although few are retrotransposition-competent and are clustered into subfamilies according to the source gene from which they evolved. Recombination between them can lead to genomic rearrangements of clinical and evolutionary significance. In this study, we have addressed the role of recombination in the origin of chimeric Alu source genes by the analysis of all known consensus sequences of human Alus. From the allelic diversity of Alu consensus sequences, validated in extant elements resulting from whole genome searches, distinct events of recombination were detected in the origin of particular subfamilies of AluS and AluY source genes. These results demonstrate that at least two subfamilies are likely to have emerged from ectopic Alu-Alu recombination, which stimulates further research regarding the potential of chimeric active Alus to punctuate the genome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alu Elements / genetics*
  • Base Sequence
  • Consensus Sequence / genetics
  • Evolution, Molecular*
  • Genomics
  • Humans
  • INDEL Mutation / genetics
  • Molecular Sequence Data
  • Phenotype
  • Polymorphism, Genetic / genetics
  • Recombination, Genetic*

Grants and funding

This work was supported by FCT (Portuguese governmental institution) through the program Ciencia2007 (Hiring of PhDs for the SCTN - financed by POPH - QREN - Tipology 4.2 - Promoting Scientific Employment, co-financed by MCTES national funding and The European Social Fund and the research project PTDC/BIA-PRO/099888/2008. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.