Inferring horizontal gene transfer

Horizontal or lateral gene transfer (HGT or LGT) is the transmission of portions of genomic DNA between organisms through a process decoupled from vertical inheritance. In the presence of HGT events, different fragments of the genome are the result of different evolutionary histories. This can therefore complicate investigations of the evolutionary relatedness of lineages and species. Also, as HGT can bring into genomes radically different genotypes from distant lineages, or even new genes bearing new functions, it is a major source of phenotypic innovation and a mechanism of niche adaptation. For example, of particular relevance to human health is the lateral transfer of antibiotic resistance and pathogenicity determinants, leading to the emergence of pathogenic lineages. Inferring horizontal gene transfer through computational identification of HGT events relies upon the investigation of sequence composition or evolutionary history of genes. Sequence composition-based ("parametric") methods search for deviations from the genomic average whereas evolutionary history-based ("phylogenetic") approaches identify genes whose evolutionary history significantly differs from that of the host species. The evaluation and benchmarking of HGT inference methods typically rely upon simulated genomes, for which the true history is known. On real data, different methods tend to infer different HGT events, and as a result it can be difficult to ascertain all but simple and clear-cut HGT events. Horizontal gene transfer was first observed in 1928, in Frederick Griffith's experiment: showing that virulence was able to pass from virulent to non-virulent strains of Streptococcus pneumoniae, Griffith demonstrated that genetic information can be horizontally transferred between bacteria via a mechanism known as transformation. Similar observations in the 1940s and 1950s showed evidence that conjugation and transduction are additional mechanisms of horizontal gene transfer.