Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation.
Document Type
Article
Publication Date
11-22-2024
Original Citation
Yilmaz F,
Karageorgiou C,
Kim K,
Pajic P,
Scheer K,
,
Beck C,
Torregrossa A,
Lee C,
Gokcumen O,
Audano P,
Austine-Orimoloye O,
Beck C,
Eichler E,
Hallast P,
Harvey W,
Hastie A,
Hoekzema K,
Hunt S,
Korbel J,
Kordosky J,
Lee C,
Lewis A,
Marschall T,
Munson K,
Pang A,
Yilmaz F.
Reconstruction of the human amylase locus reveals ancient duplications seeding modern-day variation. Science. 2024;386(6724):eadn0609.
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.