Human core duplicon gene families: game changers or game players?

Bekpen, Cemalettin; Tautz, Diethard

Finally, it remains to be shown whether the expansion of core duplicon gene families is a specific phenomenon in the human lineage and whether they acted as 'game changers' with respect to human-specific adaptations. It has been possible to readily detect duplicon gene families in humans because of the abundant high-quality data and comparative genome sequencing efforts in the primate phylogeny. However, there are now also examples of lineage-specific expansions in other clades, such as rodents [85] and elephants [86] . Still, the specific duplicates in the human lineage could evidently have contributed to humanspecific phenotypes and adaptations. After all, the signatures of positive selection found around human core duplicon gene families suggest an active evolutionary role. However, these signatures would likely also arise if these genes were mere modifiers of other major changes in core pathways, i.e. if they were 'game players'. Hence, deeper studies will be required to solve the questions raised above.