TF’s and Enhancers (RSI 2010)

The Regulation of Gene Expression in Human Populations by Transcription Factor Binding at Enhancer Regions

under the direction of Dr. Jeffrey H. Chuang and Ms. Lu Zhang, Boston College

Thanks goes the Center for Excellence in Education and MIT for hosting the Research Science Institute. Also, I would like to thank the Leonetti/O’Connell Family Foundation for sponsoring my research.


A deep understanding of variations of gene expression patterns is necessary to account for the large range of phenotypic variation in the human population, despite the extensive similarities in our genome. Control of gene regulation has numerous applications, ranging from temporary increases in the production of necessary proteins, such as hemoglobins, to the permanent inhibition of cytokines, serving as a possible cure to cancer. In this pilot genomewide
study, the effect of SNPs and transcription factor binding at distal control elements known as enhancers on gene expression was investigated. It was found that enhancers acts only upon genes a certain distance away, rather than on the nearest one or linkage groups determined by synteny. Our results indicate that our methodology can be used to identify critical regions for each gene where different transcription factors bind and influence gene expression.