The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements

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• dc.contributor.author Marquès i Bonet, Tomàs, 1975-ca
• dc.contributor.author Cheng, Zeca
• dc.contributor.author She, Xinweica
• dc.contributor.author Eichler, Evan E.ca
• dc.contributor.author Navarro i Cuartiellas, Arcadi, 1969-ca
• dc.date.accessioned 2012-05-03T08:26:00Z
• dc.date.available 2012-05-03T08:26:00Z
• dc.date.issued 2008ca
• dc.description.abstract Background: It has been suggested that chromosomal rearrangements harbor the molecular footprint of the biological phenomena which they induce, in the form, for instance, of changes in the sequence divergence rates of linked genes. So far, all the studies of these potential associations have focused on the relationship between structural changes and the rates of evolution of single-copy DNA and have tried to exclude segmental duplications (SDs). This is paradoxical, since SDs are one of the primary forces driving the evolution of structure and function in our genomes and have been linked not only with novel genes acquiring new functions, but also with overall higher DNA sequence divergence and major chromosomal rearrangements./nResults: Here we take the opposite view and focus on SDs. We analyze several of the features of SDs, including the rates of intraspecific divergence between paralogous copies of human SDs and of interspecific divergence between human SDs and chimpanzee DNA. We study how divergence measures relate to chromosomal rearrangements, while considering other factors that affect evolutionary rates in single copy DNA. Conclusion: We find that interspecific SD divergence behaves similarly to divergence of single-copy DNA. In contrast, old and recent paralogous copies of SDs do present different patterns of intraspecific divergence. Also, we show that some relatively recent SDs accumulate in regions that carry inversions in sister lineages.
• dc.description.sponsorship This research was supported by a grant to A.N. from the Ministerio de Ciencia y Tecnología (Spain, BFU2006 15413-C02-01) and by BE2005 and BP2006 fellowships to T.M.B from the "Departament d'Educació i Universitats de la Generalitat de Catalunya".
• dc.format.mimetype application/pdfca
• dc.identifier.citation Marquès-Bonet T, Cheng Z, She X, Eichler EE, Navarro A. The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements. BMC Genomics. 2008;9:384. DOI: 10.1186/1471-2164-9-384ca
• dc.identifier.doi http://dx.doi.org/10.1186/1471-2164-9-384
• dc.identifier.issn 1471-2164ca
• dc.identifier.uri http://hdl.handle.net/10230/16388
• dc.language.iso engca
• dc.publisher BioMed Centralca
• dc.relation.ispartof BMC Genomics. 2008;9:384
• dc.relation.projectID info:eu-repo/grantAgreement/ES/2PN/BFU2006-15413-C02-01
• dc.rights © 2008 Marquès-Bonet et al. Creative Commons Attribution Licenseca
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/2.0/
• dc.subject.other Genoma humà
• dc.subject.other Evolució humana
• dc.subject.other ADN
• dc.title The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangementsca
• dc.type info:eu-repo/semantics/articleca
• dc.type.version info:eu-repo/semantics/publishedVersion