From the Andes to the Lab Bench: Genomic, Evolutionary, and Functional Insights into Amylase Gene Variation and Metabolic Adaptation

Our laboratory investigates how genomic structural variations (SVs) uniquely drive biological diversity and evolution, surpassing smaller-scale variations like single nucleotide polymorphisms. This talk highlights our work on the amylase locus, a rapidly evolving genomic region shaped by dietary adaptations, frequent duplications, and high mutation rates. I will discuss its convergent evolution across mammals, driven by natural selection linked to starch-rich diets, and describe how long-read sequencing uncovered the mutational mechanisms behind its rapid evolution. We also examine local positive selection in indigenous Andean populations with historically starch-rich diets and how these adaptations impact metabolic health. Finally, I will summarize functional experiments in transgenic mice and diabetic-prone Western Nile rats, relevant models for human metabolism, to investigate the broader metabolic roles of amylase gene duplications. This research provides a roadmap for studying complex SVs in evolution, offering insights into human adaptation and health.