Related Experiment Video
Updated: Jun 3, 2025

Following the Dynamics of Structural Variants in Experimentally Evolved Populations
Published on: February 3, 2023
Double or nothing: Ancient duplications in the amylase locus drove human adaptation
Shahar Silverman1, Diyendo Massilani1
1Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
Abstract:
Salivary and pancreatic amylase are encoded by AMY1 and AMY2, respectively, which are located within a single genomic locus that has undergone substantial structural variation, resulting in varying gene copy numbers across species. Using optical genome mapping and long-read sequencing, Yilmaz, Karageorgiou, Kim, et al. achieved nucleotide-level resolution of this locus across different human populations, offering new insights into how copy number variation contributes to human adaptation.
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