Ancient AMY1 Gene Duplications Primed the Amylase Locus for Adaptive Evolution Upon the Onset of Agriculture

bioRxiv · November 28, 2023

Feyza Yilmaz, Charikleia Karageorgiou, Kwondo Kim, **Petar Pajic**, Christine R. Beck, Ann-Marie Torregrossa, Charles Lee, Omer Gokcumen, Human Genome Structural Variation Consortium

Starch digestion is a cornerstone of human nutrition. The amylase enzyme, which digests starch, plays a key role in starch metabolism. Indeed, the copy number of the human amylase gene has been associated with metabolic diseases and adaptation to agricultural diets.

Our research reveals that amylase gene duplications originated over 700,000 years ago, predating the human-Neanderthal divergence, and likely facilitated dietary adaptation during the agricultural transition through nonallelic homologous recombination mechanisms. These ancient duplication events primed the locus for the structural diversity now observed across human populations.

#amylase #genomics #evolutionary-tradeoffs

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