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Toward a human epigenome

Nature Genetics volume 38, pages 1359–1360 (2006)Cite this article

Sequencing of genomes, including that of humans, has revolutionized our understanding of genome organization and accelerated the hunt for disease-causing mutations. New studies by the Human Epigenome Project (HEP) now highlight the importance and complexity of cytosine DNA methylation in tissue-specific regulation of gene expression.

The completion of the Human Genome Project, accompanied by sequencing projects of other living and extinct organisms, has allowed us to dissect genome organization, determine gene numbers and search for regulatory sequences embedded in DNA1,2. Over the past two decades, research has highlighted the critical role of epigenetics, defined as the interplay of DNA methylation, histone modifications and expression of noncoding RNAs, in the regulation of gene expression patterns from early development to adulthood3,4,5. In response to these observations, the HEP, an ambitious international enterprise aimed at cataloging and describing genome-wide DNA methylation patterns in all major tissues, was launched with a pilot project6. On page 13787 of this issue, Florian Eckhardt and colleagues provide a detailed analysis of the DNA methylation profiles of human chromosomes 6, 20 and 22 in 12 different disease-free tissues. Their findings not only underscore the viability of large-scale quantifiable DNA methylation analysis with single–base pair resolution but also identify important differences in epigenome organization among distinct tissue types.

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Figure 1: Tissue-specific DNA methylation and epigenetic heterogeneity among individuals.

Kim Caesar

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Authors and Affiliations

  1. Division of Human Cancer Genetics, Department of Molecular Genetics and Department of Molecular Virology, Immunology and Medical Genetics,

    Romulo M Brena, Tim H-M Huang & Christoph Plass

  2. Division of Human Cancer Genetics, Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University, Columbus, 43210, Ohio, USA

    Romulo M Brena, Tim H-M Huang & Christoph Plass

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  1. Romulo M Brena
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  2. Tim H-M Huang
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Brena, R., Huang, TM. & Plass, C. Toward a human epigenome. Nat Genet 38, 1359–1360 (2006). https://doi.org/10.1038/ng1206-1359

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