RT Journal Article
SR Electronic
T1 Balancing selection on genomic deletion polymorphisms in humans
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 2022.04.28.489864
DO 10.1101/2022.04.28.489864
A1 Alber Aqil
A1 Leo Speidel
A1 Pavlos Pavlidis
A1 Omer Gokcumen
YR 2022
UL http://biorxiv.org/content/early/2022/04/28/2022.04.28.489864.abstract
AB A key question in biology is why genomic variation persists in a population for extended periods. Recent studies have identified examples of genomic deletions that have remained polymorphic in the human lineage for hundreds of millennia, ostensibly owing to balancing selection. Nevertheless, genome-wide investigations of ancient and possibly adaptive deletions remain an imperative exercise. Here, we used simulations to show an excess of ancient allele sharing between modern and archaic human genomes that cannot be explained solely by introgression or ancient structure under neutrality. We identified 63 deletion polymorphisms that emerged before the divergence of humans and Neanderthals and are associated with GWAS traits. We used empirical and simulation-based analyses to show that the haplotypes that harbor these functional ancient deletions have likely been evolving under time- and geography-dependent balancing selection. Collectively, our results suggest that balancing selection may have maintained at least 27% of the functional deletion polymorphisms in humans for hundreds of thousands of years.Competing Interest StatementThe authors have declared no competing interest.