Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity.
Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity.
复制标题
DOI：
10.1186/s40246-017-0097-3
复制
发表时间：
2017-02-20
期刊：
影响因子：
4.5
通讯作者：
Armour JA
中科院分区：
文献类型：
--
作者：
Carpenter D;Mitchell LM;Armour JA
人类唾液淀粉酶是由1号染色体上淀粉酶基因簇中的复制可变基因AMY1编码的。虽然唾液淀粉酶的作用已被证实，但AMY1拷贝数变异(CNV)对唾液淀粉酶蛋白产生的影响尚不清楚。淀粉酶基因簇是高度结构化的，在奇、偶AMY1拷贝数单倍型之间有根本的区别。在这项研究中，我们的目的是在119个无关个体的样本中，不仅探索AMY1 CNV对唾液淀粉酶蛋白表达和淀粉酶活性的影响，而且探索是否有证据表明包含奇数个AMY1单倍型和偶数个拷贝数单倍型的常见单倍型之间存在潜在差异。AMY1拷贝数与唾液淀粉酶产量(变异的11.7%，P <； 0.0005)和酶活性(变异的13.6%，P <； 0.0005)显著相关，但不能解释个体间观察到的大部分变异。AMY1单倍型和AMY1偶数单倍型的拷贝数与表达水平之间的关系不同，但差异无统计学意义(P = 0.052)。唾液淀粉酶的产生与AMY1CNV相关，但大多数个体间变异来自其他来源。长程单倍型结构可能会影响表达，但在我们的数据中这一点并不显著。本文的在线版本(doi：10.1186/s40246-0170097-3)包含补充材料，授权用户可以使用。
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 < 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). 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. The online version of this article (doi:10.1186/s40246-017-0097-3) contains supplementary material, which is available to authorized users.