Epigenome Mapping in Normal and Disease States

Epigenomes are comprised, in part, of all genome-wide chromatin modifications, including DNA methylation and histone modifications. Unlike the genome, epigenomes are dynamic during development and differentiation to establish and maintain cell type–specific gene expression states that underlie cellu...

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Bibliographic Details
Published in:Circulation research 2010-08, Vol.107 (3), p.327-339
Main Authors: Maunakea, Alika K, Chepelev, Iouri, Zhao, Keji
Format: Article
Language:English
Subjects:
Animals
Biological and medical sciences
Chromatin - genetics
DNA Methylation
Embryonic Development - genetics
Environment
Epigenesis, Genetic - genetics
Fundamental and applied biological sciences. Psychology
Gene Expression Regulation
Gene Silencing
Genetic Diseases, Inborn - genetics
Genetic Predisposition to Disease
Genome, Human
Genome-Wide Association Study
Histones - genetics
Humans
Phenotype
Reference Values
Vertebrates: cardiovascular system
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Summary:Epigenomes are comprised, in part, of all genome-wide chromatin modifications, including DNA methylation and histone modifications. Unlike the genome, epigenomes are dynamic during development and differentiation to establish and maintain cell type–specific gene expression states that underlie cellular identity and function. Chromatin modifications are particularly labile, providing a mechanism for organisms to respond and adapt to environmental cues. Results from studies in animal models clearly demonstrate that epigenomic variability leads to phenotypic variability, including susceptibility to disease that is not recognized at the DNA sequence level. Thus, capturing epigenomic information is invaluable for comprehensively understanding development, differentiation, and disease. Herein, we provide a brief overview of epigenetic processes, how they are relevant to human health, and review studies using technologies that enable epigenome mapping. We conclude by describing feasible applications of epigenome mapping, focusing on epigenome-wide association studies (eGWAS), which have the potential to revolutionize current studies of human diseases and will likely promote the discovery of novel diagnostic, preventative, and treatment strategies.
ISSN:0009-7330
1524-4571
DOI:10.1161/CIRCRESAHA.110.222463