What would happen in a cell that had a mutation that inactivated the protein WASP?

Expert Solution

- Mutation in the WAS protein gene which encodes a 502-amino acid protein, named WASP (expressed specifically in hematopoietic cells) causes Wiskott-Aldrich syndrome (WAS) which is an X-linked recessive immune deficiency disorder characterized by thrombocytopenia, eczema, recurrent infections, and increased risk of autoimmune disorders and malignancies. Mutation in WASP gene also causes X-linked thrombocytopenia (XLT) which is an allelic variant of WAS presents with a milder phenotype, usually limited to thrombocytopenia. The majority of mutations that causes WAS occurs in the WH1 domain of the protein.

- WASP is an actin polymerization regulator in hematopoietic cells with well-defined functional domains that are involved in cell signaling and cell locomotion, immune synapse formation, and apoptosis. WASP is also thought to play a pivotal role in actin cytoskeleton organization.

- The main function of WASP is that it binds actin monomers as well as the actin-related protein (ARP) 2/3 complex to catalyze branching of filamentous actin (F-actin) in hematopoietic cells. Hence mutations in WASP results in reduced actin polymerization, phagocytosis, filopodia formation, and chemotaxis.

gladiator answered 1 year ago

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