Findings from National Cancer Institute broaden understanding of bioinformatics
2007 NOV 21 -- According to a study from the United States, "Multiple variants of the vascular adhesion molecule-1 (VCAM1) promoter show increased nucleotide heterozygosity in the African American population. Using a novel transfection-based transcriptional pathway profiling method, we show that select uncommon variants are functionally hyperactive." "Eight candidate VCAM1 promoter haplotypes comprising 13 previously identified SNPs were assessed for response to known mitogens. Activity was correlated with bioinformatic analysis of hyper- and hyporesponsive variants to identify the gain or loss of haplotype -specific transcription factor binding site (TFBS). Using this approach, a low frequency regulatory allele (c.-540A >G; dbSNP rs3783605:A >G), found in a hyperactive VCAM1 promoter haplotype, was shown to create a candidate binding site for ETS2 that was confirmed in vivo by chromatin immunoprecipitation," wrote G. Idelman and colleagues, National Cancer Institute. The researchers concluded: "This report provides the first functional evaluation of VCAM1 promoter polymorphisms and establishes a hypothetical foundation for investigation of their role in the pathogenesis of VCAM1-associated diseases that disproportionately afflict African Americans, including thromboembolic diseases, asthma, and multiple myeloma." Idelman and colleagues published the results of their research in Human Mutation (Functional profiling of uncommon VCAM1 promoter polymorphisms prevalent in African American populations. Human Mutation, 2007;28(8):824-829). For additional information, contact K. Gardner, National Cancer Institute, Laboratory Receptor Biology & Gene Express, 41 Library Dr., Bldg 41-D305, Bethesda, MD 20892, USA. The publisher of the journal Human Mutation can be contacted at: Wiley-Liss, Division John Wiley & Sons Inc., 111 River St., Hoboken, NJ 07030, USA. Keywords: United States, Bethesda, Bioinformatics, National Cancer Institute. This article was prepared by Biotech Week editors from staff and other reports. Copyright 2007, Biotech Week via NewsRx.com.
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