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| Título: | Rates and patterns of great ape retrotransposition |
Autor: | Hormozdiari, Fereydoun; Prado-Martinez, Javier CSIC ORCID; Hernando-Herraez, Irene CSIC ORCID; Marqués-Bonet, Tomàs CSIC ORCID ; Eichler, Evan E. | Palabras clave: | Retrotransposon Structural variation Genomics Genetic diversity |
Fecha de publicación: | 2013 | Editor: | National Academy of Sciences (U.S.) | Citación: | Proceedings of the National Academy of Sciences 110(33): 13457-13462 (2013) | Resumen: | 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. | Descripción: | Hormozdiari, Fereydoun et al.-- Great Ape Genome Project | Versión del editor: | http://dx.doi.org/10.1073/pnas.1310914110 | URI: | http://hdl.handle.net/10261/115565 | DOI: | 10.1073/pnas.1310914110 | Identificadores: | doi: 10.1073/pnas.1310914110 issn: 0027-8424 |
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