- Hormozdiari, Fereydoun;
- Konkel, Miriam K;
- Prado-Martinez, Javier;
- Chiatante, Giorgia;
- Herraez, Irene Hernando;
- Walker, Jerilyn A;
- Nelson, Benjamin;
- Alkan, Can;
- Sudmant, Peter H;
- Huddleston, John;
- Catacchio, Claudia R;
- Ko, Arthur;
- Malig, Maika;
- Baker, Carl;
- Project, Great Ape Genome;
- Marques-Bonet, Tomas;
- Ventura, Mario;
- Batzer, Mark A;
- Eichler, Evan E
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.