title: Learning about mammalian gene regulation from functional enhancer assays in the mouse.
abstract: Enhancer biology is emerging as a critical area of research that informs studies of evolution, development, and disease. From early experiments that defined and mapped the first enhancers to recent enhancer models of human disease, functional experiments in the mouse have played a central role in revealing enhancer biology. Three decades of in vivo enhancer studies in mouse have laid the groundwork for the current understanding of mammalian enhancers, demonstrating the developmental and tissue-specific activity of enhancers and illuminating general features of enhancer evolution and function. Recent studies offer an emerging perspective on the importance of chromosomal context, combinatorial enhancer activity, and the functional consequences of enhancer sequence variation. This review describes the basic principles of functional testing in mouse, summarizes the contributions these studies have made to our understanding of enhancer biology, and describes limitations and future outlook of in vivo mouse enhancer studies.
authors.affiliation: Center for Neuroscience, Department of Neurobiology, Physiology and Behavior, College of Biological Sciences, University of California, Davis, CA, USA; Department of Psychiatry and Behavioral Sciences, School of Medicine, University of California, Davis, CA, USA. Electronic address: asnord@ucdavis.edu.
authors.forename: Alex S
authors.initials: AS
authors.lastname: Nord
mesh_terms: D000818:Animals; D004742:Enhancer Elements, Genetic; D019143:Evolution, Molecular; D018507:Gene Expression Regulation, Developmental; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D008322:Mammals / Q000235:genetics; D051379:Mice; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D014157:Transcription Factors
keywords: Enhancer; Function; Gene regulation; Mouse