Rates and patterns of great ape retrotransposition
Hormozdiari, Fereydoun et al.-- Great Ape Genome Project
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National Academy of Sciences (U.S.)
2013
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Subjects: | Retrotransposon, Structural variation, Genomics, Genetic diversity, |
Online Access: | http://hdl.handle.net/10261/115565 http://dx.doi.org/10.13039/100000002 http://dx.doi.org/10.13039/501100000781 http://dx.doi.org/10.13039/501100004837 http://dx.doi.org/10.13039/100000011 http://dx.doi.org/10.13039/501100002809 |
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dig-ibe-es-10261-1155652021-11-22T13:10:36Z Rates and patterns of great ape retrotransposition Hormozdiari, Fereydoun Prado-Martinez, Javier Hernando-Herraez, Irene Marqués-Bonet, Tomàs Eichler, Evan E. National Institutes of Health (US) European Research Council Ministerio de Ciencia e Innovación (España) Howard Hughes Medical Institute Generalitat de Catalunya Retrotransposon Structural variation Genomics Genetic diversity Hormozdiari, Fereydoun et al.-- Great Ape Genome Project We 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. This work was supported by National Institutes of Health (NIH) Grant HG002385 (to E.E.E.), NIH R01 Grant GM59290 (to M.A.B.), an European Research Council Starting Grant (260372) (to T.M.-B.), and Ministerio de Ciencia e Innovacion (MICINN - Spain) BFU2011-28549 (to T.M.-B.). P.H.S. is supported by a Howard Hughes International Student Fellowship; E.E.E. is an Investigator of the Howard Hughes Medical Institute; and T.M.-B. is a Research Investigator (Institut Catala d’Estudis i Recerca Avancats de la Generalitat de Catalunya). Peer Reviewed 2015-05-21T09:47:36Z 2015-05-21T09:47:36Z 2013 2015-05-21T09:47:36Z artículo http://purl.org/coar/resource_type/c_6501 doi: 10.1073/pnas.1310914110 issn: 0027-8424 Proceedings of the National Academy of Sciences 110(33): 13457-13462 (2013) http://hdl.handle.net/10261/115565 10.1073/pnas.1310914110 http://dx.doi.org/10.13039/100000002 http://dx.doi.org/10.13039/501100000781 http://dx.doi.org/10.13039/501100004837 http://dx.doi.org/10.13039/100000011 http://dx.doi.org/10.13039/501100002809 23884656 http://dx.doi.org/10.1073/pnas.1310914110 Sí none National Academy of Sciences (U.S.) |
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Retrotransposon Structural variation Genomics Genetic diversity Retrotransposon Structural variation Genomics Genetic diversity |
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Retrotransposon Structural variation Genomics Genetic diversity Retrotransposon Structural variation Genomics Genetic diversity Hormozdiari, Fereydoun Prado-Martinez, Javier Hernando-Herraez, Irene Marqués-Bonet, Tomàs Eichler, Evan E. Rates and patterns of great ape retrotransposition |
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Hormozdiari, Fereydoun et al.-- Great Ape Genome Project |
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National Institutes of Health (US) |
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National Institutes of Health (US) Hormozdiari, Fereydoun Prado-Martinez, Javier Hernando-Herraez, Irene Marqués-Bonet, Tomàs Eichler, Evan E. |
format |
artículo |
topic_facet |
Retrotransposon Structural variation Genomics Genetic diversity |
author |
Hormozdiari, Fereydoun Prado-Martinez, Javier Hernando-Herraez, Irene Marqués-Bonet, Tomàs Eichler, Evan E. |
author_sort |
Hormozdiari, Fereydoun |
title |
Rates and patterns of great ape retrotransposition |
title_short |
Rates and patterns of great ape retrotransposition |
title_full |
Rates and patterns of great ape retrotransposition |
title_fullStr |
Rates and patterns of great ape retrotransposition |
title_full_unstemmed |
Rates and patterns of great ape retrotransposition |
title_sort |
rates and patterns of great ape retrotransposition |
publisher |
National Academy of Sciences (U.S.) |
publishDate |
2013 |
url |
http://hdl.handle.net/10261/115565 http://dx.doi.org/10.13039/100000002 http://dx.doi.org/10.13039/501100000781 http://dx.doi.org/10.13039/501100004837 http://dx.doi.org/10.13039/100000011 http://dx.doi.org/10.13039/501100002809 |
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