Fig. 1: Centromere size variation in primary fibroblasts from patients with SSc.

a A heatmap depicting alpha-satellite content (rows) obtained by qPCR in 50 ng of DNA from fibroblasts obtained from healthy individuals (N59, N63, N67, and N68) and patients with lcSSc (17, 18, 19, 25). Unsupervised hierarchical clustering analysis was conducted to ascertain if distinct genetic signatures distinguish healthy fibroblasts from lesion fibroblasts. Normal samples are noted to cluster with diseased samples, suggesting that centromeric alterations in fibroblasts obtained from patients with lcSSc do not diverge from variations that occur at baseline in fibroblasts obtained from health individuals. b A heatmap depicting alpha-satellite content in fibroblasts from healthy individuals (N59, N60, and N64) and patients with dcSSc (43, 60, 65, and 74). With the exception of the dcSSc sample 74, diseased samples are distinct genetically at the centromeric locus as compared to healthy samples (N59, N60, and N64) and show evidence of marked loss of centromere repeats in multiple chromosomes. The color gradient bar represents relative abundance (left). No significant variation of chromosomal arm gene copy numbers GAPDH, TTR, and TOP3A were observed. The nomenclature of these α-satellites begins with the letter D, followed by their chromosome number (1–22, X or Y), followed by a Z, and a number indicating the order in which these sequences were discovered. The DYZ3 repeat accurately represents the gender of the individuals (light gray: female; blue: male). Data obtained in three replicates were analyzed using a multiple unpaired t-test, assuming a gaussian distribution. Stars indicate statistically significant differences between the groups in a t-test analysis (*p = < 0.5, **p = < 0.1, ***p = < 0.001). LNA lock nucleic acid. Source Data are provided as a Source Data file.