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Figure 1 | BMC Medical Genetics

Figure 1

From: DNA instability in replicating Huntington's disease lymphoblasts

Figure 1

Instable cell lines with (ΔCAG ≥ 5) and stable cell lines with no or small (ΔCAG ≤ 3) CAG repeat variation in dependence on expanded CAG repeat number and mosaicism. A, Expansion CAG mutations are significantly larger in instable cell lines with ΔCAG ≥ 5 (n = 55; 89.4 ± 11.1 CAG) than in those with ΔCAG ≤ 3 (n = 55; 46.6 ± 0.10 CAG). B, Relationship between ΔCAG magnitude and expanded CAG repeat number. Groups 0, 1, 2, 3 and 5 represent cell lines with a ΔCAG value of 0, 1, 2, 3, and ≥ 5 repeats, respectively. The higher ΔCAG magnitude, the more significant is the statistical difference with Group 0-cell lines. Groups 2, 3 and 5 all showed a significant difference vs Group 0 (p-values = 0.0009, 0.0041 and < 0.0001, respectively). C, The mosaicism level, calculated by counting the maximum number of peaks, is significantly lower for stable cell lines with no or small repeat variation (n = 55, 7.4 ± 2.8 peaks and ΔCAG ≤ 3), than for those with large CAG changes (n = 5, 29.9 ± 13.7 and ΔCAG ≥ 5). D, The mosaicism level in dependence on ΔCAG: Samples with more than 80 CAG and about 40 peaks excluded as outliers to avoid a possible bias. Cell lines with large ΔCAG variations ≥ 5 CAG repeats showed an increased number of peaks and mosaicism vs each of the other groups with lower CAG variation (p-values = 0.0003, 0.0007, 0.0086 vs cell lines with ΔCAG = 0, 1 and 2 repeats, respectively). Diamonds in panels B, C and D represent outliers. Standard deviation is reported at the top of each bar.

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