Transposable Elements Are a Significant Contributor to Tandem Repeats in the Human Genome

Abstract EN

Sequence repeats are an important phenomenon in the human genome, playing important roles in genomic alteration often with phenotypic consequences.

The two major types of repeat elements in the human genome are tandem repeats (TRs) including microsatellites, minisatellites, and satellites and transposable elements (TEs).

So far, very little has been known about the relationship between these two types of repeats.

In this study, we identified TRs that are derived from TEs either based on sequence similarity or overlapping genomic positions.

We then analyzed the distribution of these TRs among TE families/subfamilies.

Our study shows that at least 7,276 TRs or 23% of all minisatellites/satellites is derived from TEs, contributing ∼0.32% of the human genome.

TRs seem to be generated more likely from younger/more active TEs, and once initiated they are expanded with time via local duplication of the repeat units.

The currently postulated mechanisms for origin of TRs can explain only 6% of all TE-derived TRs, indicating the presence of one or more yet to be identified mechanisms for the initiation of such repeats.

Our result suggests that TEs are contributing to genome expansion and alteration not only by transposition but also by generating tandem repeats.