Evidence for genomic rearrangements mediated by human endogenous retroviruses during primate evolution

Human endogenous retroviruses (HERVs), which are remnants of past retroviral infections of the germline cells of our ancestors(1), make up as much as 8% of the human genome and may even outnumber genes(2,3). Most HERVs seem to have entered the genome between 10 and 50 million years ago, and they comprise over 200 distinct groups and subgroups(1,4). Although repeated sequence elements such as HERVs have the potential to lead to chromosomal rearrangement through homologous recombination between distant loci, evidence for the generality of this process is lacking. To gain insight into the expansion of these elements in the genome during the course of primate evolution, we have identified 23 new members of the HERV-K (HML-2) group, which is thought to contain the most recently active members. Here we show, by phylogenetic and sequence analysis, that at least 16% of these elements have undergone apparent rearrangements that may have resulted in large-scale deletions, duplications and chromosome reshuffling during the evolution of the human genome.