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The human promoter methylome

Nature Genetics volume 39, pages 442–443 (2007)Cite this article

DNA methylation is a heritable epigenetic mark found in a wide range of eukaryotes. By mapping DNA methylation within the majority of human promoters, the authors of a new study uncover intriguing insights into genome evolution, cellular differentiation and potential links to tumorigenesis.

The completion of the human genome has provided a wealth of information about our genetic wiring. However, there is a great deal of information within the chromatin fiber beyond the DNA sequence. Unlike genetic information, which can be read, but not written, this epigenetic information is actively altered, providing a flexible framework for specifying states of gene activity. DNA methylation, a covalent modification of DNA, is used by organisms ranging from mammals to plants to bacteria to convey epigenetic information1,2. Eukaryotes predominantly methylate cytosines in CpG dinucleotides. Because CpG dinucleotides are symmetric, a DNA methyltransferase can scan newly replicated DNA for hemimethylated CpG sites and fill in the missing methylation. This semiconservative replication, akin to that of the DNA sequence, makes methylation an excellent repository of epigenetic information. The first methylome—the profiling of methylation within an entire genome—was recently reported for the plant Arabidopsis thaliana3,4. Now, Weber et al.5 take the closest step yet toward the human methylome by mapping DNA methylation within the majority of human promoters in somatic cells and mature sperm.

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Figure 1: DNA methylation in development and disease.

Kim Caesar

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  1. Daniel Zilberman is at the Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Seattle, Washington 98109, USA. dzilberm@fhcrc.org,

    Daniel Zilberman

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Zilberman, D. The human promoter methylome. Nat Genet 39, 442–443 (2007). https://doi.org/10.1038/ng0407-442

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