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. 2021 Feb 24;12:1269. doi: 10.1038/s41467-021-21247-8

Fig. 7. Telomeric repeat loci.

Fig. 7

a Telomeric repeat loci frequency in ATRX-mutated (dark pink) and ATRX wild-type (light pink) ALT-positive tumors compared to TERT (blue), MNA (MNA), and tumors without genetic evidence of an activated telomere maintenance mechanism (OTHER, gray) in the discovery cohort. Boxplots indicate the median value (middle line) and the 25th and 75th percentiles (box). The upper/lower whisker spans from the hinge to the largest/smallest value (values expanding a distance of 1.5 x inter quartile range are not considered). Dots represent individual tumors. n describes the number of analyzed tumors. P values were calculated with two-sided Wilcoxon rank sum tests. b Example of one telomeric repeat locus in tumor NBD119. Dark blue color indicates sequencing coverage and light blue color illustrates clipped sequences. Reads are shown in medium gray and clipped bases are color-coded. Non-telomeric ends of a discordant read pair are labeled in dark gray. c Overall survival probability of ALT-positive tumors harboring more than three telomeric repeat loci compared to ALT-positive tumors with three or less than three events. P value calculated using a log rank test. d Chromosomal location of telomeric repeat loci in the discovery cohort. e Exact genomic location of events contributing to the hotspot on chromosome 1q42.2 in the discovery and INFORM cohort and two ALT-positive cell lines. The 1q42.2 events of NBD158 and NBD137 ware added manually (see Methods). f Chr1 copy number profiles of tumors with a telomeric repeat locus on chr1q42.2. Junction sites and orientation of telomeric repeats are indicated in orange. Color-coding according to subgroup (# HET ALT/MNA). g Differential mRNA expression of genes located in the chr1q42.2-1qter deleted region comparing 1q42-1qter deleted to non-deleted tumors. Genes are colored by their mean expression normalized by exonic length or by their presence in the TelNet database22. *) Matched primary relapsed pair.