Paleolithic Gene Duplications Primed Adaptive Evolution of Human Amylase Locus Upon Agriculture.

ABSTRACT: Starch digestion is a cornerstone of human nutrition. The amylase genes code for the starch-digesting amylase enzyme. Previous studies suggested that the salivary amylase (AMY1) gene copy number increased in response to agricultural diets. However, the lack of nucleotide resolution of the amylase locus hindered detailed evolutionary analyses. Here, we have resolved this locus at nucleotide resolution in 98 present-day humans and identified 30 distinct haplotypes, revealing that the coding sequences of all amylase gene copies are evolving under negative selection. The phylogenetic reconstruction suggested that haplotypes with three AMY1 gene copies, prevalent across all continents and constituting about 70% of observed haplotypes, originated before the out-of-Africa migrations of ancestral

SUBMITTER: Yilmaz F 

PROVIDER: S-EPMC10705236 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature