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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype.

PURPOSE OF REVIEW: Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT), characterized by chronic microthrombocytopenia with and without immunodeficiency, are caused by mutations of the WAS protein (WASP) gene. WASP has been reported to interact with many cytoplasmic molecules linking cellular signaling to the actin cytoskeleton. In this review we will focus on recent molecular findings that provide a better understanding of the pathogenesis of this complex disease and explore the correlation of genotype and clinical phenotype. RECENT FINDINGS: Recent investigations have provided evidence that WASP and several related proteins are involved in the reorganization of the actin cytoskeleton by activating Arp2/3-mediated actin polymerization. This function is controlled mainly by a small GTPase Cdc42. Activated GTP-bound Cdc42 dissociates the intramolecular autoinhibitory loop formation of WASP. In addition, WASP is involved in cytoplasmic signaling by its interaction with a variety of adaptor molecules or kinases and serves as a link to actin reorganization, which is important for immunological synapse formation, cell trafficking and motility. Tyrosine or serine phosphorylation of WASP increases the actin polymerization activity of WASP via Arp2/3. Mutation analysis of WAS/XLT patients has provided evidence for a strong correlation between phenotype and genotype. Gene therapy for WASP-deficient human lymphocytes and Wasp-deficient mice was performed successfully. SUMMARY: The study of WASP and its mutations has led to a better understanding of the pathogenesis of the syndrome (thrombocytopenia, immunodeficiency, atopic dermatitis, autoimmune and malignant diseases) and the mechanisms required for cell mobility, cell-cell interaction and cytoplasmic signaling, as well as thrombopoiesis and maintenance of the number of platelets.[1]


  1. WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype. Imai, K., Nonoyama, S., Ochs, H.D. Current opinion in allergy and clinical immunology. (2003) [Pubmed]
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