1 Functional promoter SNPs in cell cycle checkpoint genes.

Abstract

g.oxfordjournals.org/ D ow nloaded from 2 A substantial number of genes mutated in human cancers encode components of the cell cycle processes. Since the G1/S transition in the cell cycle is a finely regulated biological process we hypothesized that sequence variations in the promoter region of the related genes might indeed lead to abnormal expression, thus predisposing the individuals carrying these genetic variants to cancer. In this report we screened the promoter regions of 16 cell cycle checkpoint genes for DNA variants and assessed the functional impact of these promoter SNPs (pSNPs) by combining in silico analysis and in vitro functional assays. We identified 127 pSNPs including 90 with predicted impact on putative binding sites of known transcription factors. Eleven pSNPs were selected for electrophoresis mobility shift assay