Genomic views of distant-acting enhancers

• Published in: Nature (London) Vol. 461; no. 7261; pp. 199 - 205
• Main Authors: Visel, Axel, Rubin, Edward M, Pennacchio, Len A
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 10.09.2009; Nature Publishing Group
• Subjects: Animals; Binding sites; Cardiovascular disease; Changes; Comparative analysis; Deoxyribonucleic acid; DNA; DNA sequencing; Enhancer Elements, Genetic - genetics; Evolution, Molecular; Gene Expression Regulation; Genetic Predisposition to Disease - genetics; Genetics; Genome, Human - genetics; Genomics; Human genome; Humanities and Social Sciences; Humans; multidisciplinary; Noncoding DNA; Nucleotide sequencing; Proteins; review-article; Risk factors; RNA polymerase; Science; Science (multidisciplinary); United States
• ISSN: 0028-0836; 1476-4687
• DOI: 10.1038/nature08451

In contrast to protein-coding sequences, the significance of variation in non-coding DNA in human disease has been minimally explored. A great number of recent genome-wide association studies suggest that non-coding variation is a significant risk factor for common disorders, but the mechanisms by which this variation contributes to disease remain largely obscure. Distant-acting transcriptional enhancers — a major category of functional non-coding DNA — are involved in many developmental and disease-relevant processes. Genome-wide approaches to their discovery and functional characterization are now available and provide a growing knowledge base for the systematic exploration of their role in human biology and disease susceptibility.