Article
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Science translational medicine - 2 Mar 2016
Turro Ernest, Greene Daniel, Wijgaerts Anouck, Thys Chantal, Lentaigne Claire, Bariana Tadbir K, Westbury Sarah K, Kelly Anne M, Selleslag Dominik, Stephens Jonathan C, Papadia Sofia, Simeoni Ilenia, Penkett Christopher J, Ashford Sofie, Attwood Antony, Austin Steve, Bakchoul Tamam, Collins Peter, Deevi Sri V V, Favier Rémi, Kostadima Myrto, Lambert Michele P, Mathias Mary, Millar Carolyn M, Peerlinck Kathelijne, Perry David J, Schulman Sol, Whitehorn Deborah, Wittevrongel Christine, De Maeyer Marc, Rendon Augusto, Gomez Keith, Erber Wendy N, Mumford Andrew D, Nurden Paquita, Stirrups Kathleen, Bradley John R, Raymond F Lucy, Laffan Michael A, Van Geet Chris, Richardson Sylvia, Freson Kathleen, Ouwehand Willem H
Abstract excerpt
The Src family kinase (SFK) member SRC is a major target in drug development because it is activated in many human cancers, yet deleterious SRC germline mutations have not been reported. We used genome sequencing and Human Phenotype Ontology patient coding to identify a gain-of-function mutation in SRC causing thrombocytopenia, myelofibrosis, bleeding, and bone pathologies in nine cases. Modeling of the E527K...
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