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A burst of segmental duplications in the genome of the African great ape ancestor

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dc.contributor.author Marquès i Bonet, Tomàs, 1975-
dc.contributor.author Kidd, Jeffrey M.
dc.contributor.author Ventura, Mario
dc.contributor.author Graves, Tina A.
dc.contributor.author Cheng, Ze
dc.contributor.author Hillier, LeDeana W.
dc.contributor.author Jiang, Zhaoshi
dc.contributor.author Baker, Carl
dc.contributor.author Malfavon-Borja, Ray
dc.contributor.author Fulton, Lucinda
dc.contributor.author Alkan, Can
dc.contributor.author Aksay, Gozde
dc.contributor.author Girirajan, Santhosh
dc.contributor.author Siswara, Priscillia
dc.contributor.author Chen, Lin
dc.contributor.author Cardone, Maria Francesca
dc.contributor.author Navarro i Cuartiellas, Arcadi, 1969-
dc.contributor.author Mardis, Elaine R.
dc.contributor.author Wilson, Richard K.
dc.contributor.author Eichler, Evan E.
dc.date.accessioned 2013-04-17T13:34:51Z
dc.date.available 2013-04-17T13:34:51Z
dc.date.issued 2009
dc.identifier.citation Marques-Bonet T, Kidd JM, Ventura M, Graves TA, Cheng Z, Hillier LW et al. A burst of segmental duplications in the genome of the African great ape ancestor. Nature. 2009;457(7231):877-81. DOI: 10.1038/nature07744
dc.identifier.issn 0028-0836
dc.identifier.uri http://hdl.handle.net/10230/20558
dc.description.abstract It is generally accepted that the extent of phenotypic change between human and great apes is dissonant with the rate of molecular change. Between these two groups, proteins are virtually identical, cytogenetically there are few rearrangements that distinguish ape-human chromosomes, and rates of single-base-pair change and retrotransposon activity have slowed particularly within hominid lineages when compared to rodents or monkeys. Studies of gene family evolution indicate that gene loss and gain are enriched within the primate lineage. Here, we perform a systematic analysis of duplication content of four primate genomes (macaque, orang-utan, chimpanzee and human) in an effort to understand the pattern and rates of genomic duplication during hominid evolution. We find that the ancestral branch leading to human and African great apes shows the most significant increase in duplication activity both in terms of base pairs and in terms of events. This duplication acceleration within the ancestral species is significant when compared to lineage-specific rate estimates even after accounting for copy-number polymorphism and homoplasy. We discover striking examples of recurrent and independent gene-containing duplications within the gorilla and chimpanzee that are absent in the human lineage. Our results suggest that the evolutionary properties of copy-number mutation differ significantly from other forms of genetic mutation and, in contrast to the hominid slowdown of single-base-pair mutations, there has been a genomic burst of duplication activity at this period during human evolution.
dc.description.sponsorship This work was supported by a Marie Curie fellowship
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Nature Publishing Group
dc.relation.ispartof Nature. 2009;457(7231):877-81
dc.rights © Nature Publishing Group
dc.subject.other Evolució molecular
dc.subject.other Genòmica
dc.subject.other Primats -- Genètica
dc.title A burst of segmental duplications in the genome of the African great ape ancestor
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1038/nature07744
dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/220278
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/acceptedVersion

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