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.
Publication Source (Journal or Book title)
Proceedings of the National Academy of Sciences of the United States of America
Hormozdiari, F., Konkel, M., Prado-Martinez, J., Chiatante, G., Herraez, I., Walker, J., Nelson, B., Alkan, C., Sudmant, P., Huddleston, J., Catacchio, C., Ko, A., Malig, M., Baker, C., Marques-Bonet, T., Ventura, M., Batzer, M., & Eichler, E. (2013). Rates and patterns of great ape retrotransposition. Proceedings of the National Academy of Sciences of the United States of America, 110 (33), 13457-13462. https://doi.org/10.1073/pnas.1310914110