KeywordsGenome evolution, horizontal transfer, transposon, eukaryote, mammal not peer-reviewed) is the author/funder. All rights reserved. No reuse allowed without permission.The copyright holder for this preprint (which was . http://dx.doi.org/10.1101/106914 doi: bioRxiv preprint first posted online Feb. 8, 2017; 3 Significance statement LINE-1 (L1) elements occupy about half of most mammalian genomes (1), and they are believed to be strictly vertically inherited (2). Mutagenic L1 insertions are thought to account for approximately 1 of every 1000 random, disease-causing insertions in humans (4-7). Our research indicates that the very presence of L1s in humans, and other therian mammals, is due to an ancient transfer event -which has drastic implications for our perception of genome evolution. Using a machina analyses over 503 genomes, we trace the origins of L1 and BovB retrotransposons across the tree of life, and provide evidence of their long-term impact on eukaryotic evolution.
IntroductionTransposable elements (TEs) are mobile segments of DNA which occupy large portions of eukaryotic genomes, including more than half of the human genome (1). Long interspersed element (LINE) retrotransposons are TEs which move from site to site using a "copy and paste" mechanism, facilitating their amplification throughout the genome (3, 4). The insertion of retrotransposons can interrupt existing genetic structures, resulting in gene disruptions, chromosomal breaks and rearrangements, and numerous diseases such as cancer (5)(6)(7)(8). Two of the most abundant retrotransposon families in eukaryotes are LINE-1 (L1) and Bovine-B (BovB) (2, 9).Horizontal transfer (HT) is the transmission of genetic material by means other than parentto-offspring: a phenomenon primarily associated with prokaryotes. However, given a vector of transfer (e.g. virus, parasite), retrotransposons have the innate ability to jump between species as they do within genomes (3,10). Studies investigating the possibility of HT in not peer-reviewed) is the author/funder. All rights reserved. No reuse allowed without permission.The copyright holder for this preprint (which was . http://dx.doi.org/10.1101/106914 doi: bioRxiv preprint first posted online Feb. 8, 2017; 4 retrotransposons are limited, mainly including CR1s and RTEs (9,(11)(12)(13). Given the limited evidence to date, we tested the hypothesis that horizontal transfer is a ubiquitous process not restricted to certain species or retrotransposons. We used L1 and BovB elements as exemplars because of their contrasting dynamics and predominance in mammalian genomes. BovB retrotransposons provide an excellent example of horizontal transfer: divergent species contain highly similar BovB sequences and the analysis of various tick species reveals a plausible vector of transfer (9). In contrast, L1 elements are believed to be only vertically inherited, based on knowledge gained primarily through mammalian organisms (2). We hypothesise that the very presence of L1s in today's mammals is due to an anci...