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Copy number variation of MUC7 PTS-repeats in primates.
(a) Copy number variation of MUC7 PTS-repeats genotyped by PCR (Table S3); and (b) compared to the reference genome copy number as indicated by asterisks. The black dots and dashed lines indicate the range of observed PTS repeat copy numbers; (c) Heatmap depicting the comparison of simulated (Table S4) and observed (Table S3) PTS-repeat copy number variation. The x-axis shows the mutation rates that we used for simulations (e.g., θ = 1 corresponds to 1 duplication/deletion event per million years). For each cell in the heatmap, we calculated the ratio between the expected and observed copy number variation. The red colors indicate higher observed variation as compared to simulated variation, whereas the white colors indicate the opposite. The dendrogram to the left is constructed without any a priori input by hierarchical clustering of the values in individual cells in each row. The row labels on the right indicate within species comparisons (green) and among species comparisons (gray). There is consistently more-than-expected variation among great apes and old-world monkey species (upper rows) than within-species and within-families (lower rows). The within-species variation in baboon does not fit in this general trend, possibly because of ascertainment bias due to small sampling.