Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.

摘要: Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia, eczema, immune deficiency, and a proclivity toward lymphoid malignancy. Lymphocytes of affected individuals show defects activation, motility, cytoskeletal structure. The disease gene encodes 502-amino acid protein named the WAS (WASP). Studies have identified number important interactions that place WASP in role integrating signaling pathways with function. We performed two-hybrid screen to identify proteins interacting cloned proline-rich as specific interactor. Our clone this protein, termed (WIP) others, shows difference seven amino residues, compared previously published sequence revealing additional profilin binding motif. Deletion mutant analysis reveals residues 101–151 are necessary for WASP-WIP interaction. Point analyses system vitro impairment interaction three missense mutants known cause WAS. conclude impaired may contribute