Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity
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...
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| Format: | Article |
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BioMed Central
2017
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| Online Access: | https://eprints.nottingham.ac.uk/40334/ |
| _version_ | 1848796031775408128 |
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| author | Carpenter, Danielle Mitchell, Laura Armour, John A.L. |
| author_facet | Carpenter, Danielle Mitchell, Laura Armour, John A.L. |
| author_sort | Carpenter, Danielle |
| building | Nottingham Research Data Repository |
| collection | Online Access |
| description | 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 < 0.0005) and enzyme activity (13.6% of variance, P < 0.0005) but did not explain the majority of observed variation between individuals. AMY1-odd and AMY1-even haplotypes showed a different relationship between copy number and expression levels, but the difference was not statistically significant (P = 0.052).
Conclusions
Production of salivary amylase is correlated with AMY1 CNV, but the majority of interindividual variation comes from other sources. Long-range haplotype structure may affect expression, but this was not significant in our data. |
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| format | Article |
| id | nottingham-40334 |
| institution | University of Nottingham Malaysia Campus |
| institution_category | Local University |
| last_indexed | 2025-11-14T19:41:31Z |
| publishDate | 2017 |
| publisher | BioMed Central |
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| spelling | nottingham-403342024-08-15T15:21:54Z https://eprints.nottingham.ac.uk/40334/ 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. 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 < 0.0005) and enzyme activity (13.6% of variance, P < 0.0005) but did not explain the majority of observed variation between individuals. AMY1-odd and AMY1-even haplotypes showed a different relationship between copy number and expression levels, but the difference was not statistically significant (P = 0.052). Conclusions Production of salivary amylase is correlated with AMY1 CNV, but the majority of interindividual variation comes from other sources. Long-range haplotype structure may affect expression, but this was not significant in our data. BioMed Central 2017-02-20 Article PeerReviewed Carpenter, Danielle, Mitchell, Laura and Armour, John A.L. (2017) Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity. Human Genomics, 11 . 2/1-2/6. ISSN 1479-7364 Genome instability Amylase CNV Gene expression https://humgenomics.biomedcentral.com/articles/10.1186/s40246-017-0097-3 doi:10.1186/s40246-017-0097-3 doi:10.1186/s40246-017-0097-3 |
| spellingShingle | Genome instability Amylase CNV Gene expression Carpenter, Danielle Mitchell, Laura Armour, John A.L. Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity |
| title | Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity |
| title_full | Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity |
| title_fullStr | Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity |
| title_full_unstemmed | Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity |
| title_short | Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity |
| title_sort | copy number variation of human amy1 is a minor contributor to variation in salivary amylase expression and activity |
| topic | Genome instability Amylase CNV Gene expression |
| url | https://eprints.nottingham.ac.uk/40334/ https://eprints.nottingham.ac.uk/40334/ https://eprints.nottingham.ac.uk/40334/ |