Abstract
BackgroundDuplications of large genomic segments provide genetic diversity in genome evolution. Despite their importance, how these duplications are generated remains uncertain, particularly for distant duplicated genomic segments.ResultsHere we provide evidence of the participation of circular DNA intermediates in the single generation of some large human segmental duplications. A specific reversion of sequence order from A-B/C-D to B-A/D-C between duplicated segments and the presence of only microhomologies and short indels at the evolutionary breakpoints suggest a circularization of the donor ancestral locus and an accidental replicative interaction with the acceptor locus.ConclusionsThis novel mechanism of random genomic mutation could explain several distant genomic duplications including some of the ones that took place during recent human evolution.
Highlights
Duplications of large genomic segments provide genetic diversity in genome evolution
In this study we provide evidence for the involvement of replicative circular DNA intermediates in the duplication of sixteen large (> 20-kilobase) genomic segments evolutionarily preserved in the human genome
The repetitive element content in Circular-DNA-mediated Segmental duplications (SDs) Pairs (cSDPs) are similar to the content of their corresponding chromosomes (Table S2)
Summary
Duplications of large genomic segments provide genetic diversity in genome evolution. Despite their importance, how these duplications are generated remains uncertain, for distant duplicated genomic segments. How these duplications are generated remains uncertain, for distant duplicated genomic segments Gross genome rearrangements, such as deletions, amplifications, inversions and duplications, are an important source of genetic structural variation for natural selection. In yeast, where a 16 clusters of five open reading frames have integrated in multiple occasions and in diverse genomic locations in the genome of two industrial strains of Saccharomyces cerevisiae [13]; in a basal vertebrate, the Nile tilapia fish, generating a 28 Kb duplication of the vasa gene [14]; and in a single mammal, as the mechanism for two translocations of 492 and 575-kilobases that included the KIT gene causing the dominantly inherited color sidedness phenotype in domesticated cattle [15]
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