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. 2012 Aug 9;8(8):e1002871. doi: 10.1371/journal.pgen.1002871

Figure 3. Non-coding Melanocyte DHSs are dis-enriched for accumulating melanoma somatic mutations.

Figure 3

(A) Genic partitioning of melanocyte DHSs such that every DHS occurs in a single category shows that most categories are depleted for mutation accumulation (TSS P = Transcription Start Site Proximal [within 5 Kb]; TSS D = Transcription Start Site Distal [greater than 5 Kb]). Common SNPs are based on 1000 Genomes calls that have at least 5% minor allele frequency (MAF). (B) Intergenic TSS-distal cell-type-specific and ubiquitous DHSs show different levels of enrichment or depletion. (C) Enrichment or depletion at cell-type combinations of intergenic TSS-distal melanocyte and non-melanocyte DHSs. For these analyses, the set of regions representing any data point must have overlapped at least 10 somatic variants to be considered. The horizontal black line at zero represents no enrichment. The GSC method was used to measure enrichment. Error bars represent one standard deviation from the mean of the null distribution. (D) A hierarchical tree based on DHS Euclidean distance among 29 different cell states. Note the positioning of melanocytes “Melano” relative to aortic smooth muscle cells “AosmcSerumfree” and human embryonic stem cells “H1hesc”, which are among the most depleted for somatic mutation accumulation (Figure 3B).