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Blood, 15 April 2006, Vol. 107, No. 8, pp. 3350-3358. Prepublished online as a Blood First Edition Paper on January 5, 2006; DOI 10.1182/blood-2005-09-3556. This Article Full Text (PDF) All Versions of this Article: 2005-09-3556v1 107/8/3350    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Grosse, J. Articles by Stanley, E R Search for Related Content PubMed PubMed Citation Articles by Grosse, J. Articles by Stanley, E R Related Collections Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted September 2, 2005 Accepted November 30, 2005 Mutation of mouse MAYP/PSTPIP2 causes a macrophage autoinflammatory disease Johannes Grosse, Violeta Chitu, Andreas Marquardt, Petra Hanke, Carolin Schmittwolf, Lutz Zeitlmann, Patricia Schropp, Bettina Barth, Philipp Yu, Rainer Paffenholz, Gabriele Stumm, Michael Nehls, and E R Stanley* Ingenium Pharmaceuticals AG, Martinsried, Germany Department of Developmental and Molecular Biology, Albert Einstein College of Medicine, Bronx, New York, USA * Corresponding author; email: rstanley{at}aecom.yu.edu. Macrophage actin-associated tyrosine phosphorylated protein (MAYP)/PSTPIP2, a PCH protein, is involved in the regulation of macrophage motility. Mutations in a closely related gene, PSTPIP1/CD2BP1 cause a dominantly inherited autoinflammatory disorder known as PAPA syndrome. A mutant mouse obtained by chemical mutagenesis exhibited an autoinflammatory disorder characterized by macrophage infiltration and inflammation leading to osteolysis and necrosis in paws and necrosis of ears. Positional cloning of this recessive mutation, termed Lupo, identified a T to A nucleotide exchange leading to an amino acid substitution (I282N) in the sequence of MAYP. MaypLp/Lp disease was transferable by bone marrow transplantation and developed in the absence of lymphocytes. Consistent with the involvement of macrophages, lesion development could be prevented by the administration of clodronate liposomes. MAYP is expressed in monocytes/macrophages and a Mac1+ sub-fraction of granulocytes. LPS stimulation increases its expression in macrophages. Due to instability of the mutant protein, MAYP expression is reduced 3-fold in MaypLp/Lp macrophages and upon LPS stimulation does not rise above the level of unstimulated wt cells. MaypLp/Lp mice expressed elevated circulating levels of several cytokines, including MCP-1 and in vitro their macrophages exhibited altered cytokine production. These studies suggest that MAYP plays an anti-inflammatory role in macrophages. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: Fahrenheit 18 E3 Helene F. Rosenberg Blood 2006 107: 3020-3021. [Full Text] [PDF] This article has been cited by other articles: M. Hurtado-Nedelec, S. Chollet-Martin, P. Nicaise-Roland, S. Grootenboer-Mignot, R. Ruimy, O. Meyer, and G. Hayem Characterization of the immune response in the synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome Rheumatology, August 1, 2008; 47(8): 1160 - 1167. [Abstract] [Full Text] [PDF] R. J. W. Heath and R. H. Insall F-BAR domains: multifunctional regulators of membrane curvature J. Cell Sci., June 15, 2008; 121(12): 1951 - 1954. [Full Text] [PDF] K. Abe, S. Wechs, S. Kalaydjiev, T. J. Franz, D. H. Busch, H. Fuchs, D. Soewarto, H. Behrendt, S. Wagner, T. Jakob, et al. Novel lymphocyte-independent mechanisms to initiate inflammatory arthritis via bone marrow-derived cells of Ali18 mutant mice Rheumatology, March 1, 2008; 47(3): 292 - 300. [Abstract] [Full Text] [PDF] S. Wei, X.-M. Dai, and E. R. Stanley Transgenic expression of CSF-1 in CSF-1 receptor-expressing cells leads to macrophage activation, osteoporosis, and early death J. Leukoc. Biol., December 1, 2006; 80(6): 1445 - 1453. [Abstract] [Full Text] [PDF]

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