1148-High Amylase Gene Copy Number in Indigenous Andeans

This study identifies a rapid genetic adaptation in Indigenous Peruvian Andean populations linked to starch digestion. Researchers discovered that these populations possess the highest salivary amylase (AMY1) gene copy numbers globally, a trait that correlates with the historical domestication of potatoes approximately 10,000 years ago. By comparing the genomes of over 3,700 individuals, the authors found evidence of a positive selective sweep on a specific haplotype that likely rose in frequency as an evolutionary response to a high-carbohydrate diet. The study utilizes ultra-long-read sequencing to demonstrate that these high copy numbers were generated through recombination-based mutational mechanisms. Ultimately, the findings highlight how local dietary shifts and selection on standing genetic variation can shape complex regions of the human genome.References:Scheer K, Landau LJB, Jorgensen K, Karageorgiou C, Siao L, Alkan C, Morales Rivera AM, Osborne C, Garcia OA, Pearson L, Kiyamu M, Rivera-Ch M, León-Velarde F, Lee FS, Brutsaert T, Bigham AW, Gokcumen O. Rapid adaptive increase of amylase gene copy number in Indigenous Andeans. Nat Commun. 2026 May 5;17(1):3822. doi: 10.1038/s41467-026-71450-8. PMID: 42086559; PMCID: PMC13144329.前往小宇宙评论区与主播互动