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Bridging epigenomics and complex disease: the basics

Cellular and Molecular Life Sciences volume 70, pages 1609–1621 (2013)Cite this article

Abstract

The DNA sequence largely defines gene expression and phenotype. However, it is becoming increasingly clear that an additional chromatin-based regulatory network imparts both stability and plasticity to genome output, modifying phenotype independently of the genetic blueprint. Indeed, alterations in this “epigenetic” control layer underlie, at least in part, the reason for monozygotic twins being discordant for disease. Functionally, this regulatory layer comprises post-translational modifications of DNA and histones, as well as small and large noncoding RNAs. Together these regulate gene expression by changing chromatin organization and DNA accessibility. Successive technological advances over the past decade have enabled researchers to map the chromatin state with increasing accuracy and comprehensiveness, catapulting genetic research into a genome-wide era. Here, aiming particularly at the genomics/epigenomics newcomer, we review the epigenetic basis that has helped drive the technological shift and how this progress is shaping our understanding of complex disease.

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Authors and Affiliations

  1. Max-Planck Institute of Immunobiology and Epigenetics, Stuebeweg 51, 79108, Freiburg, Germany

    Raffaele Teperino, Adelheid Lempradl & J. Andrew Pospisilik

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  1. Raffaele Teperino
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  2. Adelheid Lempradl
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  3. J. Andrew Pospisilik
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Correspondence to J. Andrew Pospisilik.

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Teperino, R., Lempradl, A. & Pospisilik, J.A. Bridging epigenomics and complex disease: the basics. Cell. Mol. Life Sci. 70, 1609–1621 (2013). https://doi.org/10.1007/s00018-013-1299-z

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  • DOI: https://doi.org/10.1007/s00018-013-1299-z

Keywords

  • Complex diseases
  • Chromatin
  • Epigenomics