Functional genetic variation in pe / ppe genes contributes to diversity in Mycobacterium tuberculosis lineages and potential interactions with the human host.

The high level of genes conservation, together with the lineage-specific findings, suggest their phylogenetic informativeness. However, structural variants and gene rearrangements differing from the reference were also identified, with potential implications for pathogenicity. Overall, improving our knowledge of these complex gene families may have insights into pathogenicity and inform the development of much-needed tools for tuberculosis control.