Figure 2

Copy number variation of the  STX17  duplication. (A) Copy number assay for the STX17 duplication in constitutional DNA from 94 Grey Lipizzaner horses and one calibrator sample with a known copy number of 2. Mean copy number G/g = 2.58, G/G = 3.84, SEM (standard error of the mean) G/g = 0.05, G/G = 0.05. (B) Copy number assay for the STX17 duplication in constitutional DNA and/or melanoma DNA (c = constitutional DNA, mel = melanoma DNA) using three different probes; IN = inside the duplicated sequence, OUT = outside the duplicated sequence and BP n = the border between the 5’flanking sequence and the 5’end of the duplicated sequence. The sample denoted ‘Calibr’ is a g/g individual with a known copy number of 2, used as a calibrator in the analysis. Constitutional DNA from one G/g and one G/G horse was tested in the assay and the results are shown as a reference for the copy number expected from each genotype. Brackets surround the equine melanoma cell lines or the paired constitutional and melanoma DNA samples. Error bars represent the copy number range from the CopyCaller™ Software analysis of quadruplicates in each assay. Samples showing a copy number expansion are marked with an asterisk. (C) Copy number assay for the STX17 duplication breakpoint in constitutional DNA and/or melanoma DNA (c = constitutional DNA, mel = melanoma DNA) using the probe BP d = over the duplication breakpoint. The G/G reference sample was used as a calibrator in the analysis. Error bars represent the copy number range from the CopyCaller™ Software analysis of quadruplicates in each assay.