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dc.contributor.authorHormozdiari, F.en_US
dc.contributor.authorKonkel, M. K.en_US
dc.contributor.authorPrado-Martinez, J.en_US
dc.contributor.authorChiatante, G.en_US
dc.contributor.authorHerraez, I. H.en_US
dc.contributor.authorWalker, J. A.en_US
dc.contributor.authorNelson, B.en_US
dc.contributor.authorAlkan, C.en_US
dc.contributor.authorSudmant, P. H.en_US
dc.contributor.authorHuddleston, J.en_US
dc.contributor.authorCatacchio, C. R.en_US
dc.contributor.authorKo, A.en_US
dc.contributor.authorMalig, M.en_US
dc.contributor.authorBaker, C.en_US
dc.contributor.authorMarques-Bonet, T.en_US
dc.contributor.authorVentura, M.en_US
dc.contributor.authorBatzer, M. A.en_US
dc.contributor.authorEichler, E. E.en_US
dc.date.accessioned2016-02-08T09:36:32Z
dc.date.available2016-02-08T09:36:32Z
dc.date.issued2013en_US
dc.identifier.issn0027-8424
dc.identifier.urihttp://hdl.handle.net/11693/20852
dc.description.abstractWe analyzed 83 fully sequenced great ape genomes for mobile element insertions, predicting a total of 49,452 fixed and polymorphic Alu and long interspersed element 1 (L1) insertions not present in the human reference assembly and assigning each retrotransposition event to a different time point during great ape evolution. We used these homoplasy-free markers to construct a mobile element insertions-based phylogeny of humans and great apes and demonstrate their differential power to discern ape subspecies and populations. Within this context, we find a good correlation between L1 diversity and single-nucleotide polymorphism heterozygosity (r2 =0.65) in contrast to Alu repeats, which show little correlation (r2 =0.07). We estimate that the rate of Alu retrotransposition has differed by a factor of 15-fold in these lineages. Humans, chimpanzees, and bonobos show the highest rates of Alu accumulation-the latter two since divergence 1.5 Mya. The L1 insertion rate, in contrast, has remained relatively constant, with rates differing by less than a factor of three. We conclude that Alu retrotransposition has been the most variable form of genetic variation during recent human-great ape evolution, with increases and decreases occurring over very short periods of evolutionary time.en_US
dc.language.isoEnglishen_US
dc.source.titleTitle National Academy of Sciences. Proceedingsen_US
dc.relation.isversionofhttp://dx.doi.org/10.1073/pnas.1310914110en_US
dc.subjectGenetic diversityen_US
dc.subjectGenomicsen_US
dc.subjectRetrotransposonen_US
dc.subjectStructural variationen_US
dc.subjectLong Interspersed Nucleotide Elementsen_US
dc.titleRates and patterns of great ape retrotranspositionen_US
dc.typeArticleen_US
dc.departmentDepartment of Computer Engineeringen_US
dc.citation.spage13457en_US
dc.citation.epage13462en_US
dc.citation.volumeNumber110en_US
dc.citation.issueNumber33en_US
dc.identifier.doi10.1073/pnas.1310914110en_US
dc.publisherNational Academy of Sciencesen_US


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