FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia
J. Clin. Invest. Hana Raslova, et al. 114:77 doi:10.1172/JCI21197 [Go to this article.]

Figure 3
Restoration of megakaryocytic phenotype in two PTS patients after FLI1 cDNA transfer in vitro. (A) Flow-cytometry analysis of CD41 and CD42 expression in MKs from a control and two patients (P1 and P2) 11 days after transduction of their peripheral blood CD34⁺ cells with PGK-IRES-eGFP or with PGK-Fli1-IRES-eGFP. Gate R3 and numbers indicated below the gates represent the percentage of mature MKs with high levels of CD41 and CD42 expression. (B) Immunolabeling of FLI1 (red staining) and vWF (green staining) in patient 1 and 3 (P1 and P3) MKs grown from CD34⁺ cells transduced (T), or not (NT), with PGK-Fli1-IRES-eGFP. Images were captured using epifluorescence microscope (Nikon Eclipse 600) with a ×40 objective. Large, presumably polyploid MKs characterized by a typical polylobulated nucleus (DAPI staining) and by a unique, continuous cytoplasmic membrane (vWF staining) in patient 1 and 3 after FLI1 transduction are indicated by a white arrowhead.