Supplementary Materials

Supplementary Material for:

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

Ernest Turro, Daniel Greene, Anouck Wijgaerts, Chantal Thys, Claire Lentaigne, Tadbir K. Bariana, Sarah K. Westbury, Anne M. Kelly, Dominik Selleslag, Jonathan C. Stephens, Sofia Papadia, Ilenia Simeoni, Christopher J. Penkett, Sofie Ashford, Antony Attwood, Steve Austin, Tamam Bakchoul, Peter Collins, Sri V. V. Deevi, Rémi Favier, Myrto Kostadima, Michele P. Lambert, Mary Mathias, Carolyn M. Millar, Kathelijne Peerlinck, David J. Perry, Sol Schulman, Deborah Whitehorn, Christine Wittevrongel, BRIDGE-BPD Consortium, Marc De Maeyer, Augusto Rendon, Keith Gomez, Wendy N. Erber, Andrew D. Mumford, Paquita Nurden, Kathleen Stirrups, John R. Bradley, F. Lucy Raymond, Michael A. Laffan, Chris Van Geet, Sylvia Richardson, Kathleen Freson,* Willem H. Ouwehand

*Corresponding author. E-mail: kathleen.freson{at}med.kuleuven.be

Published 2 March 2016, Sci. Transl. Med. 8, 328ra30 (2016)
DOI: 10.1126/scitranslmed.aad7666

This PDF file includes:

  • Materials and Methods
  • Fig. S1. Sanger sequencing chromatograms.
  • Fig. S2. EM images.
  • Fig. S3. Representative histograms of CD62P release from α-granule membranes.
  • Fig. S4. Amino acid conservation across species and human SFKs.
  • Fig. S5. Protein structure of SRC.
  • Fig. S6. Antiphosphotyrosine immunoblots.
  • Fig. S7. Immunoblot analysis of FGR, YES, and FYN.
  • Fig. S8. Immunoblot analysis of MPL.
  • Fig. S9. Images of skin fibroblasts stained with phalloidin-rhodamine and anti–SRC-Y419.
  • Fig. S10. MK ploidy analysis by flow cytometry.
  • Fig. S11. Proplatelet analysis of differentiated fibrinogen-adhered lentiviral-transduced MKs.
  • Fig. S12. Immunofluorescence confocal microscopy images of differentiated fibrinogen-adhered lentiviral-transduced MKs.
  • Fig. S13. Quantification of podosomes in differentiated fibrinogen-adhered lentiviral-transduced MKs.
  • Fig. S14. Hematopoiesis analysis of zebrafish embryos.
  • Fig. S15. Thrombocyte and bone analysis of zebrafish embryos.
  • Fig. S16. Unaltered Western blots for Fig. 2D.
  • Fig. S17. Unaltered Western blots for Fig. 2G.
  • Fig. S18. Unaltered Western blots for Fig. 3A.
  • Fig. S19. Unaltered Western blots for Fig. 4E.
  • Fig. S20. Unaltered Western blots for Fig. 5A.
  • Table S1. Probability of overexpression of SFK members in MKs relative to other progenitor cells.
  • Table S2. Statistical data.
  • Table S3. Additional BRIDGE-BPD Consortium members.

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