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Accelerated exon evolution within primate segmental duplications

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dc.contributor.author Lorente-Galdós, Belén, 1981-
dc.contributor.author Bleyhl, Jonathan
dc.contributor.author Santpere Baró, Gabriel, 1981-
dc.contributor.author Vives, Laura
dc.contributor.author Ramírez, Oscar
dc.contributor.author Hernández Rodríguez, Jéssica, 1983-
dc.contributor.author Anglada Busquets, Roger
dc.contributor.author Cooper, Gregory M.
dc.contributor.author Navarro i Cuartiellas, Arcadi, 1969-
dc.contributor.author Eichler, Evan E.
dc.contributor.author Marquès i Bonet, Tomàs, 1975-
dc.date.accessioned 2015-12-02T13:22:31Z
dc.date.available 2015-12-02T13:22:31Z
dc.date.issued 2013
dc.identifier.citation Lorente-Galdos B, Bleyhl J, Santpere G, Vives L, Ramírez O, Hernandez J et al. Accelerated exon evolution within primate segmental duplications. Genome biology. 2013;14(1):R9. DOI: 10.1186/gb-2013-14-1-r9
dc.identifier.issn 1474-7596
dc.identifier.uri http://hdl.handle.net/10230/25305
dc.description.abstract BACKGROUND: The identification of signatures of natural selection has long been used as an approach to understanding the unique features of any given species. Genes within segmental duplications are overlooked in most studies of selection due to the limitations of draft nonhuman genome assemblies and to the methodological reliance on accurate gene trees, which are difficult to obtain for duplicated genes. RESULTS: In this work, we detected exons with an accumulation of high-quality nucleotide differences between the human assembly and shotgun sequencing reads from single human and macaque individuals. Comparing the observed rates of nucleotide differences between coding exons and their flanking intronic sequences with a likelihood-ratio test, we identified 74 exons with evidence for rapid coding sequence evolution during the evolution of humans and Old World monkeys. Fifty-five percent of rapidly evolving exons were either partially or totally duplicated, which is a significant enrichment of the 6% rate observed across all human coding exons. CONCLUSIONS: Our results provide a more comprehensive view of the action of selection upon segmental duplications, which are the most complex regions of our genomes. In light of these findings, we suggest that segmental duplications could be subjected to rapid evolution more frequently than previously thought.
dc.description.sponsorship The Spanish Government for grants BFU2009-13409-C02-02 to AN and BFU2011-28549 to TM-B. The European Community for an ERC Starting Grant (StG_20091118)) to TM-B.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher BioMed Central
dc.relation.ispartof Genome biology. 2013;14(1):R9
dc.rights © 2013 Lorente-Galdos et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
dc.rights.uri http://creativecommons.org/licenses/by/2.0
dc.subject.other Evolució molecular
dc.subject.other Genoma humà
dc.title Accelerated exon evolution within primate segmental duplications
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1186/gb-2013-14-1-r9
dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/20091118
dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/BFU2009-13409
dc.relation.projectID info:eu-repo/grantAgreement/ES/3PN/BFU2011-28549
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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