Epigenome mapping in normal and disease States

AK Maunakea, I Chepelev, K Zhao - Circulation research, 2010 - Am Heart Assoc
AK Maunakea, I Chepelev, K Zhao
Circulation research, 2010Am Heart Assoc
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 …
Abstract
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.
Am Heart Assoc