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Circular DNA intermediates in the generation of large human segmental duplications. | LitMetric

Circular DNA intermediates in the generation of large human segmental duplications.

BMC Genomics

Research Unit, Hospital Universitari de Tarragona Joan XXIII, Institut d'Investigació Sanitària Pere Virgili, Universitat Rovira i Virgili, 43005, Tarragona, Spain.

Published: August 2020

Background: Duplications 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.

Results: Here 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.

Conclusions: This novel mechanism of random genomic mutation could explain several distant genomic duplications including some of the ones that took place during recent human evolution.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7450558PMC
http://dx.doi.org/10.1186/s12864-020-06998-wDOI Listing

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