Characterization of Enhancer Function from Genome-Wide Analyses

UMMS Affiliation

Program in Molecular Medicine; Program in Gene Function and Expression

Publication Date


Document Type



Genome, Human; Regulatory Elements, Transcriptional; Enhancer Elements, Genetic; Promoter Regions, Genetic; Chromatin Immunoprecipitation


Genetics and Genomics


There has been a recent surge in the use of genome-wide methodologies to identify and annotate the transcriptional regulatory elements in the human genome. Here we review some of these methodologies and the conceptual insights about transcription regulation that have been gained from the use of genome-wide studies. It has become clear that the binding of transcription factors is itself a highly regulated process, and binding does not always appear to have functional consequences. Numerous properties have now been associated with regulatory elements that may be useful in their identification. Several aspects of enhancer function have been shown to be more widespread than was previously appreciated, including the highly combinatorial nature of transcription factor binding, the postinitiation regulation of many target genes, and the binding of enhancers at early stages to maintain their competence during development. Going forward, the integration of multiple genome-wide data sets should become a standard approach to elucidate higher-order regulatory interactions.

DOI of Published Version



Annu Rev Genomics Hum Genet. 2012 Jun 11. Link to article on publisher's site

Journal/Book/Conference Title

Annual review of genomics and human genetics

Related Resources

Link to Article in PubMed

PubMed ID