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

Document Type

Article

Publication Date

11-22-2024

Keywords

JGM, SS1, Humans, Evolution, Molecular, Gene Dosage, Gene Duplication, Genome, Human, Haplotypes, Recombination, Genetic, Salivary alpha-Amylases, Selection, Genetic, Starch

JAX Source

Science. 2024;386(6724):eadn0609.

ISSN

1095-9203

PMID

39418342

DOI

https://doi.org/10.1126/science.adn0609

Grant

.L. and F.Y. were supported by the National Institutes of Health (NIH) U24HG007497; K.K. was supported by The Jackson Laboratory Postdoctoral Scholar Award; O.G. was supported by National Science Foundation (NSF) awards 2049947 and 2123284; C.R.B was supported by NIH GM133600.

Abstract

Human adaptation to a wide range of diets is a hallmark of our species, sometimes even reflected in our genomic diversity. The amylase gene encodes an enzyme that digests starch, a complex carbohydrate found in many modern human diets. Genomic studies have found substantial variation in the number of amylase gene copies, which is believed to be an adaptive response to dietary changes among human populations, after the advent of agriculture. However, the sequence complexity of the amylase gene region has hindered our understanding of the evolution of its variation and functional implications over time.

Share

COinS