Lysine-to-methionine mutations in histone H3.3 at position 36 (H3.3K36M) occur in >90% of chondroblastomas. Fang et al. found that the global reduction in H3K36 methylation observed in chondrocytes and chondroblastoma cells with H3.3K36M results from inhibition of the methyltransferases MMSET and NSD2 and SET domain containing 2 (SETD2), and that these epigenomic changes affect the expression of genes involved in many cancer-associated pathways.
References
Fang, D. et al. The histone H3.3K36M mutation reprograms the epigenome of chondroblastomas. Science 352, 1344–1348 (2016)
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Seton-Rogers, S. Histone mutations reprogramme chondroblastoma. Nat Rev Cancer 16, 411 (2016). https://doi.org/10.1038/nrc.2016.70
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DOI: https://doi.org/10.1038/nrc.2016.70
