dc.contributor.author |
Chicote, Javier U. |
dc.contributor.author |
López Sánchez, Marcos, 1986- |
dc.contributor.author |
Marquès i Bonet, Tomàs, 1975- |
dc.contributor.author |
Callizo, José |
dc.contributor.author |
Pérez Jurado, Luis Alberto |
dc.contributor.author |
García-España, Antonio |
dc.date.accessioned |
2020-10-06T05:59:42Z |
dc.date.available |
2020-10-06T05:59:42Z |
dc.date.issued |
2020 |
dc.identifier.citation |
Chicote JU, López-Sánchez M, Marquès-Bonet T, Callizo J, Pérez-Jurado LA, García-España A. Circular DNA intermediates in the generation of large human segmental duplications. BMC Genomics. 2020; 21(1):593. DOI: 10.1186/s12864-020-06998-w |
dc.identifier.issn |
1471-2164 |
dc.identifier.uri |
http://hdl.handle.net/10230/45399 |
dc.description.abstract |
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. |
dc.format.mimetype |
application/pdf |
dc.language.iso |
eng |
dc.publisher |
BioMed Central |
dc.relation.ispartof |
BMC Genomics. 2020; 21(1):593 |
dc.rights |
© The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data ma |
dc.rights.uri |
http://creativecommons.org/licenses/by/4.0/ |
dc.title |
Circular DNA intermediates in the generation of large human segmental duplications |
dc.type |
info:eu-repo/semantics/article |
dc.identifier.doi |
http://dx.doi.org/10.1186/s12864-020-06998-w |
dc.subject.keyword |
Chromoanasynthesis |
dc.subject.keyword |
Circular DNA |
dc.subject.keyword |
Copy number variants |
dc.subject.keyword |
Human genome evolution |
dc.subject.keyword |
MMBIR/FoSTeS |
dc.subject.keyword |
NHEJ |
dc.subject.keyword |
Segmental duplications |
dc.subject.keyword |
X-Y transposed region |
dc.rights.accessRights |
info:eu-repo/semantics/openAccess |
dc.type.version |
info:eu-repo/semantics/publishedVersion |