DEGs in ≥16N Srsf3-null MKs associated with human platelet disorders and key MK functions
| DEG . | logFC . | FDR . | Protein function . | Human disease manifestation . |
|---|---|---|---|---|
| Tubb1 | −3.32 | 1.6 × 10−27 | Part of microtubules driving proplatelet elongation | (Macro)thrombocytopenia |
| Tubb2a | −2.93 | 1.3×10−16 | ||
| Tubb2b | −1.91 | 1.5×10−10 | ||
| Lyn | −1.20 | 2.1×10−3 | Lyn−/− mice thrombocytopenic | Thrombocytopenia |
| Lyst | −1.39 | 2.0×10−4 | Platelet secretion | Chediak-Higashi syndrome |
| Alox12 | −2.67 | 1.4×10−14 | Arachidonate 12-lipoxygenase predominantly found in platelets | Potentially thrombocytopenia |
| P2ry12 | −1.72 | 3.3×10−5 | Platelet aggregation | Impaired platelet aggregation |
| Slfn14 | −1.73 | 6.5×10−9 | Unknown | Thrombocytopenia and platelet release defects; enlarged platelets |
| Nbeal2 | −0.90 | 5.0×10−2 | α-granule formation and secretion | Gray platelet syndrome (GPS) |
| Rasgrp2 | −1.03 | 1.0×10−2 | Platelet inside out signaling | Reduced ability to perform integrin inside-out signaling |
| Itga2b | −0.52 | 3.3×10−5 | Essential receptors for MK and PLT integrin signaling | ITGA2B/ITGB3-related thrombocytopenia |
| Itgb3 | −1.21 | 1.4×10−14 | ||
| Itgb5 | −2.02 | 5.2×10−15 | ||
| Gp6 | −1.33 | 9.7×10−7 | Collagen receptor | Impaired platelet aggregation |
| F5 | −1.29 | 8.1×10−5 | Clotting factor | Factor V Leiden blood clotting disorder |
| Vwf | −0.97 | 9.15×10−13 | Platelet aggregation | Platelet-type or type 2B von Willebrand disease |
| Myh9 | −0.71 | 5.0×10−5 | Cell motility and structure | eg, MYH9-RD inherited thrombocytopenia |
| Flna | −1.09 | 1.1×10−17 | Integrin-receptor anchoring protein | FLNA-related thrombocytopenia |
| DEG . | logFC . | FDR . | Protein function . | Human disease manifestation . |
|---|---|---|---|---|
| Tubb1 | −3.32 | 1.6 × 10−27 | Part of microtubules driving proplatelet elongation | (Macro)thrombocytopenia |
| Tubb2a | −2.93 | 1.3×10−16 | ||
| Tubb2b | −1.91 | 1.5×10−10 | ||
| Lyn | −1.20 | 2.1×10−3 | Lyn−/− mice thrombocytopenic | Thrombocytopenia |
| Lyst | −1.39 | 2.0×10−4 | Platelet secretion | Chediak-Higashi syndrome |
| Alox12 | −2.67 | 1.4×10−14 | Arachidonate 12-lipoxygenase predominantly found in platelets | Potentially thrombocytopenia |
| P2ry12 | −1.72 | 3.3×10−5 | Platelet aggregation | Impaired platelet aggregation |
| Slfn14 | −1.73 | 6.5×10−9 | Unknown | Thrombocytopenia and platelet release defects; enlarged platelets |
| Nbeal2 | −0.90 | 5.0×10−2 | α-granule formation and secretion | Gray platelet syndrome (GPS) |
| Rasgrp2 | −1.03 | 1.0×10−2 | Platelet inside out signaling | Reduced ability to perform integrin inside-out signaling |
| Itga2b | −0.52 | 3.3×10−5 | Essential receptors for MK and PLT integrin signaling | ITGA2B/ITGB3-related thrombocytopenia |
| Itgb3 | −1.21 | 1.4×10−14 | ||
| Itgb5 | −2.02 | 5.2×10−15 | ||
| Gp6 | −1.33 | 9.7×10−7 | Collagen receptor | Impaired platelet aggregation |
| F5 | −1.29 | 8.1×10−5 | Clotting factor | Factor V Leiden blood clotting disorder |
| Vwf | −0.97 | 9.15×10−13 | Platelet aggregation | Platelet-type or type 2B von Willebrand disease |
| Myh9 | −0.71 | 5.0×10−5 | Cell motility and structure | eg, MYH9-RD inherited thrombocytopenia |
| Flna | −1.09 | 1.1×10−17 | Integrin-receptor anchoring protein | FLNA-related thrombocytopenia |
Based on Balduini and Savoia59 and Fisher and Di Paola.70