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.

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?

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, Article 2. https://doi.org/10.1186/s40246-017-0097-3

• Journal Article Type: Article
• Acceptance Date: Feb 1, 2017
• Publication Date: Feb 20, 2017
• Deposit Date: Feb 6, 2017
• Publicly Available 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
• DOI: https://doi.org/10.1186/s40246-017-0097-3
• Keywords: Genome instability, Amylase, CNV, Gene expression
• Public URL: https://nottingham-repository.worktribe.com/output/845093
• Publisher URL: https://humgenomics.biomedcentral.com/articles/10.1186/s40246-017-0097-3