Pediatric Mastocytosis Is a Clonal Disease Associated with D816V and Other Activating c-KIT Mutations Christine Bodemer, Olivier Hermine, Fabienne Palmérini,

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Pediatric Mastocytosis Is a Clonal Disease Associated with D816V and Other Activating c-KIT Mutations Christine Bodemer, Olivier Hermine, Fabienne Palmérini, Ying Yang, Catherine Grandpeix-Guyodo, Phillip S. Leventhal, Smail Hadj- Rabia, Laurent Nasca, Sophie Georgin-Lavialle, Annick Cohen-Akenine, Jean-Marie Launay, Stéphane Barete, Frédéric Feger, Michel Arock, Benoît Catteau, Beatrix Sans, Jean François Stalder, Francois Skowron, Luc Thomas, Gérard Lorette, Patrice Plantin, Pierre Bordigoni, Olivier Lortholary, Yves de Prost, Alain Moussy, Hagay Sobol, Patrice Dubreuil Journal of Investigative Dermatology Volume 130, Issue 3, Pages 804-815 (March 2010) DOI: 10.1038/jid.2009.281 Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Summary of c-KIT mutations found in the patients with childhood mastocytosis. Schematic diagram of the KIT receptor protein and the corresponding location of the 21-exon coding sequence. The exon numbers are shown in boxes, and specific mutations are indicated in the corresponding regions. The numbers of identical mutations found in this study appear in parentheses. Also shown is a schematic map of PCR products (primers used are listed in Supplementary Table 1). The position of GNNK+ isoform is indicated at the end of exon 9. Ig, Ig loop-like domain; JM, juxtamembrane intracellular domain; TK1 and TK2, tyrosine kinase domain regions 1 and 2, respectively; TM, transmembrane domain. Journal of Investigative Dermatology 2010 130, 804-815DOI: (10.1038/jid.2009.281) Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Ligand-independent autophosphorylation of KIT. Cos cells were transiently transfected with pcDNA plasmids for expressing wild type or mutants of KIT and treated with (+) or without (-) 250ngml−1 stem cell factor (SCF). Western blotting was carried out using an antibody against KIT phosphorylated on Tyr719 (anti-PY719 KIT) or with an anti-c-KIT antibody (anti-KIT). Journal of Investigative Dermatology 2010 130, 804-815DOI: (10.1038/jid.2009.281) Copyright © 2010 The Society for Investigative Dermatology, Inc Terms and Conditions