Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation

Our study, “Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation” has just been published in Science.

Abstract:
Previous studies suggested that the copy number of the human salivary amylase gene, AMY1, correlates with starch-rich diets. However, evolutionary analyses are hampered by the absence of accurate, sequence-resolved haplotype variation maps. We identified 30 structurally distinct haplotypes at nucleotide resolution among 98 present-day humans, revealing that the coding sequences of AMY1 copies are evolving under negative selection. Genomic analyses of these haplotypes in archaic hominins and ancient human genomes suggest that a common three-copy haplotype, dating as far back as 800 KYA, has seeded rapidly evolving rearrangements through recurrent non-allelic homologous recombination. Additionally, haplotypes with more than three AMY1 copies have significantly increased in frequency among European farmers over the past 4,000 years, potentially as an adaptive response to increased starch digestion.

Share with your network.

Sign up for BEAGL Briefing

An essential round up for Evolutionary and Anthropological Genomics news, opinions and analysis, delivered to your inbox.

Email
The form has been submitted successfully!
There has been some error while submitting the form. Please verify all form fields again.
Scroll to Top