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Elife. 2019 May 14;8. pii: e44628. doi: 10.7554/eLife.44628.

Independent amylase gene copy number bursts correlate with dietary preferences in mammals.

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Department of Biological Sciences, University at Buffalo, The State University of New York, New York, United States.
Department of Oral Biology, School of Dental Medicine, University at Buffalo, The State University of New York, New York, United States.
Institute of Computer Science (ICS), Foundation for Research and Technology - Hellas, Heraklion, Greece.
Center for Earth and Environmental Science, Plattsburgh State University, New York, United States.
Cornell Center for Animal Resources and Education, Cornell University, New York, United States.
Friedrich-Loeffler-Institut, Federal Research Institute for Animal Health, Greifswald, Germany.


The amylase gene (AMY), which codes for a starch-digesting enzyme in animals, underwent several gene copy number gains in humans (Perry et al., 2007), dogs (Axelsson et al., 2013), and mice (Schibler et al., 1982), possibly along with increased starch consumption during the evolution of these species. Here, we present comprehensive evidence for AMY copy number expansions that independently occurred in several mammalian species which consume diets rich in starch. We also provide correlative evidence that AMY gene duplications may be an essential first step for amylase to be expressed in saliva. Our findings underscore the overall importance of gene copy number amplification as a flexible and fast evolutionary mechanism that can independently occur in different branches of the phylogeny.


adaptation; copy number variation; evolutionary biology; genetics; genomics; human; human commensalism; mouse; rat; rhesus macaque; saliva; starch; structural variation

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