MDS patients display a novel non-APOBEC, non-ADAR, SNP-specific RNA editing at rs6983267 SNP. (A) Allelic imbalance between genomic DNA and CCAT2 cDNA at the SNP locus in CD34+ bone marrow cells (MDACC cohort) (i) or peripheral blood mononuclear cells (ROM cohort) of MDS patients (ii), and in CD34+ bone marrow cells (iii) or peripheral blood (iv) of healthy individuals. (B) Pie charts depicting the rate and types of rs6983267-RE observed in CD34+ bone marrow cells or peripheral blood mononuclear cells of MDS patients compared to healthy individuals. (C) Representative examples of two rs6983267-RE+ patients by Sanger sequencing of the genomic DNA and CCAT2 cDNA at the SNP locus. (D) Correlation between incidence of rs6983267-RE according to the genotype of MDS/MPN patients. (E) Correlation between CCAT2 expression levels and incidence of rs6983267-RE in MDS/MPN patients. (F) CCAT2 expression in patients that express CCAT2-GT compared to patients that express CCAT2-GG or CCAT2-TT. (G) Correlation between patients that express CCAT2-GT, CCAT2-GG, or CCAT2-TT and their risk category (classified according to IPSS risk classification). (H) CCAT2 expression levels, incidence of rs6983267-RE, and clinical features for each MDS/MPN patient analyzed are shown. (I,J) Rate of rs6983267-RE occurrence in the bone marrow cells of CCAT2 mice. (K) The incidence of rs6983267-RE and MDS/MPN clinicopathological characteristics displayed by CCAT2 mice are shown. Data are represented as mean values ± SEM. (*) P < 0.05.
