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"The association of TP53 and PRPF8 is of particular interest considering their genomic proximity (both mapping to 17p) and the appearance of RS in cases without SF3B1 mutations and high-risk features. xref When we performed a sub-analysis of RNA splicing and GE of patients with single PRPF8 (n = 34), SF3B1 (n = 281), and TP53 (n = 52) mutations, we found high covariance features for the alpha-globin ( HBA2 ) gene, which was previously shown to correlate with impaired erythrocyte maturation in SF3B1 mutant MDS. xref Furthermore, by applying gene set overrepresentation analysis to PRPF8 and TP53 mutants, we clustered the top five categories (FDR< 0.001) in erythrocytes differentiation (KLF1 and EPB42), homeostasis, and development (ALAS2, GATA1, RHAG, and SLC4A1) suggesting that these genes might inversely correlate with HBA2 expression and be responsible for the formation of RS in SF3B1 wild-type cases ( data not shown )."