Abstract
Starch digestion is a cornerstone of human nutrition, and the amylase enzyme plays a key role in starch metabolism. The copy number of the human amylase gene (AMY1) has been associated with metabolic diseases and adaptation to agricultural diets. We show that amylase gene duplications originated over 700,000 years ago, predating the human-Neanderthal divergence, and likely primed the locus for rapid dietary adaptation during the agricultural transition through nonallelic homologous recombination.
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.