Diet and the evolution of human amylase gene copy number variation

George H. Perry, Nathaniel J. Dominy, Katrina G. Claw, Arthur S. Lee, Heike Fiegler, Richard Redon, John Werner, Fernando A. Villanea, Joanna L. Mountain, Rajeev Misra, Nigel P. Carter, Charles Lee, Anne Stone

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Abstract

Starch consumption is a prominent characteristic of agricultural societies and hunter-gatherers in arid environments. In contrast, rainforest and circum-arctic hunter-gatherers and some pastoralists consume much less starch. This behavioral variation raises the possibility that different selective pressures have acted on amylase, the enzyme responsible for starch hydrolysis. We found that copy number of the salivary amylase gene (AMY1) is correlated positively with salivary amylase protein level and that individuals from populations with high-starch diets have, on average, more AMY1 copies than those with traditionally low-starch diets. Comparisons with other loci in a subset of these populations suggest that the extent of AMY1 copy number differentiation is highly unusual. This example of positive selection on a copy number-variable gene is, to our knowledge, one of the first discovered in the human genome. Higher AMY1 copy numbers and protein levels probably improve the digestion of starchy foods and may buffer against the fitness-reducing effects of intestinal disease.

Original languageEnglish (US)
Pages (from-to)1256-1260
Number of pages5
JournalNature Genetics
Volume39
Issue number10
DOIs
StatePublished - Oct 1 2007

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ASJC Scopus subject areas

  • Genetics

Cite this

Perry, G. H., Dominy, N. J., Claw, K. G., Lee, A. S., Fiegler, H., Redon, R., Werner, J., Villanea, F. A., Mountain, J. L., Misra, R., Carter, N. P., Lee, C., & Stone, A. (2007). Diet and the evolution of human amylase gene copy number variation. Nature Genetics, 39(10), 1256-1260. https://doi.org/10.1038/ng2123