Allelic polymorphisms in the transcriptional regulatory region of human SEL1L

Mutation Research/Mutation Research Genomics Pub Date : 2001-12-01 DOI:10.1016/S0027-5107(01)00241-X

Monica Cattaneo , Massimo Zollo , Giulia Malferrari , Rosaria Orlandi , Anna D’Angelo , Sylvie Menard , Ida Biunno

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引用次数: 9

Abstract

In this work, we explored the existence of genetic variants within the SEL1L transcriptional regulatory region by direct sequencing of the basal promoter. SEL1L is the human ortholog of the Caenorhabditis elegans gene sel-1, a negative regulator of LIN-12/NOTCH receptor proteins. To understand the relation in SEL1L transcription pattern observed in different epithelial cells, we analysed its promoter activity. We found it to be considerably higher only in pancreatic cells. We then looked for the presence of genetic variability within this region by sequencing the minimal promoter of 63 individuals (126 alleles); two new and associated polymorphic variants were found only in few lung carcinoma bearing patients. The functional effects of this polymorphism was analysed by transient transfection assay which resulted in a significant increase in the transcriptional activity of the gene.

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人类SEL1L转录调控区的等位基因多态性

在这项工作中，我们通过对基础启动子的直接测序，探索了SEL1L转录调控区域内遗传变异的存在。SEL1L是秀丽隐杆线虫基因sel1的人类同源基因，sel1是LIN-12/NOTCH受体蛋白的负调节因子。为了了解在不同上皮细胞中观察到的SEL1L转录模式的关系，我们分析了其启动子活性。我们发现，只有在胰腺细胞中，这个数字要高得多。然后，我们通过对63个个体(126个等位基因)的最小启动子进行测序，寻找该区域内遗传变异性的存在;两种新的相关多态性变异仅在少数肺癌患者中发现。通过瞬时转染实验分析了该多态性的功能效应，结果表明该基因的转录活性显著增加。

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Mutation Research/Mutation Research Genomics

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