PAX3和PAX7基因近端启动子区域的比较。

Comparison of the proximal promoter regions of the PAX3 and PAX7 genes.

作者信息

Möller Emely, Isaksson Margareth, Mandahl Nils, Mertens Fredrik, Panagopoulos Ioannis

机构信息

Department of Clinical Genetics, Lund University Hospital, Getingevägen 4, 221 85, Lund, Sweden.

出版信息

Cancer Genet Cytogenet. 2007 Oct 15;178(2):114-9. doi: 10.1016/j.cancergencyto.2007.06.006.

DOI:10.1016/j.cancergencyto.2007.06.006

PMID:17954266

Abstract

Translocations t(2;13)(q35;q14) and t(1;13)(p36;q14), which fuse PAX3 and PAX7, respectively, to FOXO1A, characterize alveolar rhabdomyosarcoma. Previous studies have suggested that the expression of PAX7-FOXO1A is copy-number dependent, but that of PAX3-FOXO1A is not, which may be due to a weaker PAX7 than PAX3 promoter. The aim of the present study was to compare the transcriptional activities of the PAX3 and PAX7 proximal promoter regions, using the dual-luciferase reporter assay with three vector systems in eight cell lines. The PAX3 promoter was found to have higher transcriptional activity than that of PAX7 irrespective of the vector system or cell line used. These findings are consistent with the idea that an amplification event is required for the PAX7-FOXO1A chimeric transcript to reach a critical expression level.

摘要

易位t(2;13)(q35;q14)和t(1;13)(p36;q14)分别将PAX3和PAX7与FOXO1A融合，是肺泡横纹肌肉瘤的特征。先前的研究表明，PAX7-FOXO1A的表达依赖于拷贝数，而PAX3-FOXO1A的表达则不然，这可能是由于PAX7启动子比PAX3启动子弱。本研究的目的是在8种细胞系中使用三种载体系统的双荧光素酶报告基因检测法，比较PAX3和PAX7近端启动子区域的转录活性。无论使用何种载体系统或细胞系，均发现PAX3启动子的转录活性高于PAX7。这些发现与以下观点一致，即PAX7-FOXO1A嵌合转录本需要扩增事件才能达到临界表达水平。