title: Distal enhancers: new insights into heart development and disease.
abstract: Advances in genome research have provided an unprecedented opportunity to investigate the function of non-coding DNA regulatory regions that control transcription. Large-scale studies have recently identified hundreds of thousands of distal enhancer elements; their discovery has revealed new insights into the mechanistic details of how tissue-specific gene expression patterns are established and maintained during development. Emerging evidence indicates that lineage-specific transcription factors and chromatin regulators coordinate the activation of distal enhancers to ensure robust control of gene expression programs in a cell type-specific manner. We discuss recent progress in the field and emphasize examples related to the cardiac lineage, where possible, as a model for understanding the contribution of enhancer biology to development and how disruption of enhancer function leads to disease.
authors: Department of Biology, 77 Massachusetts Avenue, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
authors: Joseph A
authors: JA
authors: Wamstad
authors: Department of Biology, 77 Massachusetts Avenue, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
authors: Xinchen
authors: X
authors: Wang
authors: Department of Biology, 77 Massachusetts Avenue, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
authors: Olukunle O
authors: OO
authors: Demuren
authors: Department of Biology, 77 Massachusetts Avenue, Massachusetts Institute of Technology, Cambridge, MA 02139, USA. Electronic address: lboyer@mit.edu.
authors: Laurie A
authors: LA
authors: Boyer
mesh_terms: D000818:Animals; D002454:Cell Differentiation; D019070:Cell Lineage; D042002:Chromatin Assembly and Disassembly; D004742:Enhancer Elements, Genetic; D044127:Epigenesis, Genetic; D020022:Genetic Predisposition to Disease; D006321:Heart / Q000254:growth & development*; D006331:Heart Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000502:physiology
chemical_list: D014157:Transcription Factors
keywords: GWAS; cardiac; enhancers; gene regulation; heart