Fig. 3. Alternative splicing.

a Sashimi plot of GATA2 exon 3 of P1 depicting two novel splicing events (represented by arcs) detected by RNAseq; dashed lines indicate the positions of an alternative donor and two new acceptors. b Long range RT-PCR spanning exon 2–5 of GATA2 transcript revealed the presence of an additional shorter product of 860 bp in P1 (indicated by asterisk (*)) corresponding to one of the transcripts found by RNAseq (donor: c.351—acceptor: c.488). Only wild-type allele (996 bp) was detected in P3–P6. c Frequency and schematic representation of novel splicing patterns in P1 detected by TA cloning of the RT-PCR product. It confirmed the presence of three novel transcripts, of which two were also identified by RNAseq. BM bone marrow, Fib fibroblasts, PB peripheral blood. GATA2 (NM_032638.4).