Identifying Alterations in Transcriptional Factor Binding Sites

Abstract

SNPs located in non-coding regions of the human genome that have been found to be significantly associated with disease or sickness may affect gene regulation by altering binding sites for Transcription Factors (TF). There have been several SNP studies conducted to identify punitive changes in Transcriptional Factor Binding Sites (TFBS) that may affect gene regulation but conformation of these changes has been lacking. In conjunction with these previous SNP studies, the HaploReg and RegulomeDB databases were explored for conformational TF motif and protein binding changes that would affect gene expression. This investigation has led to a conformation between some punitive TFBS changes from the previous studies and experimental evidence found in these databases verifying changes. These changes are discussed with relation to alterations in gene expression that may result in disease and sickness.