Figure 4: The relationship between ROBO mutations and CNV and LOH at the ROBO1 and ROBO2 locus. | Nature Communications

Figure 4: The relationship between ROBO mutations and CNV and LOH at the ROBO1 and ROBO2 locus.

From: Whole-exome and targeted sequencing identify ROBO1 and ROBO2 mutations as progression-related drivers in myelodysplastic syndromes

Figure 4

(a) The CNV and LOH events in the region of the ROBO1 and ROBO2 genes (3p12.2–12.3) are shown in 14 patients with ROBO mutations. Red line, copy number (CN) loss; purple line, loss of heterogeneity; yellow line, allelic imbalance. (b) Among 14 cases with ROBO mutations, 3 (21.4%) displayed CN loss, 5 (35.7%) had LOH and 4 (28.6%) showed an allelic imbalance at the ROBO1 and ROBO2 locus. Eight of fourteen cases exhibited genomic alterations. (c,d) The patients with ROBO mutations (n=22) exhibited significantly reduced CN in the ROBO1 and ROBO2 locus compared with patients without mutations (n=37; P=0.043; P=0.014). Statistical significance was determined by two-tailed Student’s t-test. (e,f) The patients with high-grade MDS (n=37) exhibited reduced CN in the ROBO1 and ROBO2 locus compared with the normal controls (n=40; P=0.124; P=0.002). Statistical significance was determined by one-way ANOVA’s LSD test. (g,h) The CN of ROBO1 and ROBO2 were clearly decreased after disease progression in five paired patients before and after disease progression (n=5; P=0.015; P=0.014). Statistical significance was determined by paired Student’s t tests. (i) GO enrichment analysis according to CNV or LOH events in the ROBO1 and ROBO2 regions revealed that several cell biological behaviours, such as apoptosis, adhesion and proliferation, may be affected. Error bars throughout represent the s.e.m. The detection of ROBO1 or ROBO2 CN by quantitative reverse transcription–PCR was replicated for three times.

Back to article page