(Poly)Combing the Pediatric Cancer Genome for Answers

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Science  17 May 2013:
Vol. 340, Issue 6134, pp. 823-824
DOI: 10.1126/science.1239223

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The rapid expansion of high-through-put DNA sequencing now enables the genetic analysis of human diseases at an unprecedented rate and resolution. In particular, whole-genome sequencing of rare childhood diseases promises fundamental insight into basic developmental processes and biochemical pathways (1). Indeed, this approach has identified the first mutations in histones—proteins that package DNA—in human disease (2, 3). About 80% of cases of diffuse intrinsic pontine glioma (DIPG), an aggressive, incurable childhood tumor of the brain stem, harbor these histone mutations. On page 857 of this issue, Lewis et al. (4) extend this story by showing that altered activity of polycomb repressive complex 2 (PRC2), a key developmental regulator of gene expression, is involved in the pathogenesis of gliomas carrying these mutant histones.