Recurrent evolution and selection shape structural diversity at the amylase locus.

ABSTRACT: The adoption of agriculture triggered a rapid shift towards starch-rich diets in human populations¹. Amylase genes facilitate starch digestion, and increased amylase copy number has been observed in some modern human populations with high-starch intake², although evidence of recent selection is lacking^3,4. Here, using 94 long-read haplotype-resolved assemblies and short-read data from approximately 5,600 contemporary and ancient humans, we resolve the diversity and evolutionary history of structural variation at the amylase locus. We find that amylase genes have higher copy numbers in agricultural populations than in fishing, hunting and pastoral populations. We identify 28 distinct amylase structural architectures and demonstrate that nearly identical stru

SUBMITTER: Bolognini D 

PROVIDER: S-EPMC11485256 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature