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首页> 外文期刊>Gene expression >A high proportion of chromosome 21 promoter polymorphisms influence transcriptional activity.
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A high proportion of chromosome 21 promoter polymorphisms influence transcriptional activity.

机译：21号染色体启动子多态性的很大一部分影响转录活性。

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摘要

We have sought to obtain an unbiased estimate of the proportion of polymorphisms in promoters of human genes that have functional effects. We carried out polymorphism discovery on a randomly selected group of 51 gene promoters mapping to human chromosome 21 and successfully analyzed the effect on transcription of 38 of the sequence variants. To achieve this, a total of 53 different haplotypes from 20 promoters were cloned into a modified pGL3 luciferase reporter gene vector and were tested for their abilities to promote transcription in HEK293t and JEG-3 cells. Up to seven (18%) of the 38 tested variants altered transcription by 1.5-fold, confirming that a surprisingly high proportion of promoter region polymorphisms are likely to be functionally important. The functional variants were distributed across the promoters of CRYAA, IFNAR1, KCNJ15, NCAM2, IGSF5, and B3GALT5. Three of the genes (NCAM2, IFNAR1, and CRYAA) have been previously associated with human phenotypes and the polymorphisms we describe here may therefore play a role in those phenotypes.
机译：我们试图获得具有功能作用的人类基因启动子中多态性比例的无偏估计。我们对随机选择的51个基因启动子进行了多态性发现，这些基因启动子映射到21号染色体，并成功分析了38个序列变异体对转录的影响。为实现此目的，将来自20个启动子的总共53种不同的单倍型克隆到修饰的pGL3荧光素酶报道基因基因载体中，并测试了它们在HEK293t和JEG-3细胞中促进转录的能力。在38个测试变异中，多达七个（18％）将转录改变了1.5倍，这证实了令人惊讶的高比例的启动子区域多态性可能在功能上很重要。功能变体分布在CRYAA，IFNAR1，KCNJ15，NCAM2，IGSF5和B3GALT5的启动子之间。先前已经将三个基因（NCAM2，IFNAR1和CRYAA）与人类表型相关联，因此我们在此处描述的多态性可能在这些表型中起作用。

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