Abstract

We analyzed 83 fully sequenced great ape genomes for mobile element insertions, discovering 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.

Autore Pugliese

• Catacchio Claudia Rita , Ventura Mario

Tutti gli autori

• CATACCHIO C.R.;VENTURA M.

Titolo volume/Rivista

Non Disponibile

Anno di pubblicazione

2013

ISSN

1091-6490

ISBN

Non Disponibile

Numero di citazioni Wos

Nessuna citazione

Ultimo Aggiornamento Citazioni

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Numero di citazioni Scopus

23

Ultimo Aggiornamento Citazioni

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Settori ERC

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Codici ASJC

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