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

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

SUBMITTER: Carpenter D

PROVIDER: S-EPMC5319014 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature

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

Carpenter Danielle D Mitchell Laura M LM Armour John A L JA

Human genomics 20170220 1

<h4>Background</h4>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 u ...[more]

PMID: 28219410

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