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Circular DNA intermediates in the generation of large human segmental duplications

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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


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