Open AccessThe Role of Recombination in the Origin and Evolution of Alu Subfamilies
Author(s) -
Ana Teixeira-Silva,
Raquel M. Silva,
João Carneiro,
António Amorim,
Luı́sa Azevedo
Publication year - 2013
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0064884
Subject(s) - biology , retrotransposon , genome , alu element , ectopic recombination , genome evolution , genetics , evolutionary biology , gene conversion , gene , extant taxon , recombination , human genome , transposable element , genetic recombination
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.