Abstract

Alu elements constitute 10% of the human genome. Alu mobilization is important in the evolution of the human genome. While retrotransposition is the primary pathway of Alu mobilization, Alu gene conversion has been postulated as a secondary pathway for Alu mobilization in human genome. However, the mode and tempo of Alu gene conversions remain a mystery due to lack of sensitive statistical methods. In this paper, we present the first study on sequence correlation between Alu instances, measured by the number of shared mutations away from the Alu consensus, or co-mutations. Our analysis reveals a significantly elevated co-mutation rate between Alu instances that are located in close proximity along a chromosome. This effect is more pronounced outside Alu subfamily diagnostic positions. This effect peaks among immediately adjacent Alu instances, diminishes quickly in increasing distances between Alu instances, and vanishes beyond 5000 bp. Our results suggest that this effect reflects post-retrotransposition sequence exchanges between Alu instances, mainly due to Alu gene conversions.