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Human evolution

Selection on structural variation in the amylase locus

Nature Reviews Genetics volume 25, page 748 (2024)Cite this article

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The transition from a hunter-gatherer to a farming lifestyle, which is thought to have first occurred in southwestern Asia approximately 12,000 years ago, resulted in substantial changes to the human diet that are known to have affected human evolution. α-Amylase enzymes are required to digest plant-based starches, and it has thus been proposed that the copy number expansion of the amylase genes that is observed in humans but not in other great apes may have been driven by this dietary transition. Bolognini et al. now provide evidence of positive selection for amylase gene duplications, occurring over the past 12,000 years, associated with the spread of agriculture.

Using 4,292 diverse, high-coverage modern genomes from several sources, the authors estimated diploid copy number of the three amylase genes (AMY1, AMY2A and AMY2B) in 147 different geographic populations. Copy number estimates for AMY1 ranged from 2 to 20, for AMY2A from 0 to 6, and for AMY2B from 2 to 7, with variations between population subgroups. By contrast, genomes from three Neanderthals and one Denisovan all had a single copy of each gene per haplotype. In a subset of 382 individuals from 33 different populations identified as having different lifestyle-based diets, the copy number of all three amylase genes was higher in agricultural populations than in fishing, hunting or pastoral groups, although this difference was only strongly significant for AMY1.

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    Kirsty Minton

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  1. Kirsty Minton
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Correspondence to Kirsty Minton.

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Minton, K. Selection on structural variation in the amylase locus. Nat Rev Genet 25, 748 (2024). https://doi.org/10.1038/s41576-024-00782-2

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