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Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity

Carpenter, Danielle; Mitchell, Laura; Armour, John A.L.

Authors

Danielle Carpenter

Laura Mitchell

John A.L. Armour



Abstract

Background

Salivary amylase in humans is encoded by the copy variable gene AMY1 in the amylase gene cluster on chromosome 1. Although the role of salivary amylase is well established, the consequences of the copy number variation (CNV) at AMY1 on salivary amylase protein production are less well understood. The amylase gene cluster is highly structured with a fundamental difference between odd and even AMY1 copy number haplotypes. In this study, we aimed to explore, in samples from 119 unrelated individuals, not only the effects of AMY1 CNV on salivary amylase protein expression and amylase enzyme activity but also whether there is any evidence for underlying difference between the common haplotypes containing odd numbers of AMY1 and even copy number haplotypes.

Results

AMY1 copy number was significantly correlated with the variation observed in salivary amylase production (11.7% of variance, P 

Journal Article Type Article
Publication Date Feb 20, 2017
Journal Human Genomics
Print ISSN 1473-9542
Electronic ISSN 1479-7364
Publisher Springer Verlag
Peer Reviewed Peer Reviewed
Volume 11
Article Number 2
APA6 Citation Carpenter, D., Mitchell, L., & Armour, J. A. (2017). Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity. Human Genomics, 11, https://doi.org/10.1186/s40246-017-0097-3
DOI https://doi.org/10.1186/s40246-017-0097-3
Keywords Genome instability, Amylase, CNV, Gene expression
Publisher URL https://humgenomics.biomedcentral.com/articles/10.1186/s40246-017-0097-3
Copyright Statement Copyright information regarding this work can be found at the following address: http://creativecommons.org/licenses/by/4.0

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Copyright Statement
Copyright information regarding this work can be found at the following address: http://creativecommons.org/licenses/by/4.0





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