The Role of Recombination in the Origin and Evolution of Alu Subfamilies

• Type: Article in International Scientific Journal
• Date: 2013

Authors

Ana Teixeira Silva (Author) Other; Raquel M Silva (Author) Other; Joao Carneiro (Author) Other; Antonio Amorim (Author) FCUP; Luisa Azevedo (Author) FCUP

Journal

Title: PLoS ONE

Vol. 8

Final page: e64884

ISSN: 1932-6203

Publisher: Public Library of Science

Indexing

ISI Web of Knowledge - 6 Citations

Scopus - 6 Citations

Scientific classification

FOS: Natural sciences > Biological sciences

CORDIS: Natural sciences > Biological sciences > Biology > Genetics

Other information

Authenticus ID: P-005-02V

DOI: 10.1371/journal.pone.0064884

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific