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Proc Natl Acad Sci U S A ; 110(33): 13457-62, 2013 Aug 13.
Artículo en Inglés | MEDLINE | ID: mdl-23884656

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 (r(2) = 0.65) in contrast to Alu repeats, which show little correlation (r(2) = 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.


Asunto(s)
Variación Genética , Genoma/genética , Hominidae/genética , Filogenia , Elementos Alu/genética , Animales , Análisis por Conglomerados , Cartilla de ADN/genética , Genómica , Hominidae/clasificación , Humanos , Funciones de Verosimilitud , Elementos de Nucleótido Esparcido Largo/genética , Reacción en Cadena de la Polimerasa , Polimorfismo de Nucleótido Simple , Análisis de Componente Principal , Especificidad de la Especie
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