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The role of 5-hydroxymethylcytosine in human cancer

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Abstract

The patterns of DNA methylation in human cancer cells are highly abnormal and often involve the acquisition of DNA hypermethylation at hundreds or thousands of CpG islands that are usually unmethylated in normal tissues. The recent discovery of 5-hydroxymethylcytosine (5hmC) as an enzymatic oxidation product of 5-methylcytosine (5mC) has led to models and experimental data in which the hypermethylation and 5mC oxidation pathways seem to be connected. Key discoveries in this setting include the findings that several genes coding for proteins involved in the 5mC oxidation reaction are mutated in human tumors, and that a broad loss of 5hmC occurs across many types of cancer. In this review, we will summarize current knowledge and discuss models of the potential roles of 5hmC in human cancer biology.

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Correspondence to Gerd P. Pfeifer.

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The work of the authors was supported by NIH grants ES006070 and CA160965 to G.P.P.

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Pfeifer, G.P., Xiong, W., Hahn, M.A. et al. The role of 5-hydroxymethylcytosine in human cancer. Cell Tissue Res 356, 631–641 (2014). https://doi.org/10.1007/s00441-014-1896-7

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