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Diseases with Abnormal Actin and Actin-Binding Proteins in Leukocyte and Nonmuscle Cells

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Actin-Binding Proteins and Disease

Part of the book series: Protein Reviews ((PRON,volume 8))

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Actin and actin-binding proteins (ABPs) in nonmuscle cells play important functional roles in defense against microbial infection, in phagocytes, and in the alignment of epithelial cells. Phagocytes migrate to sites of infection to ingest and destroy pathogens by generating reactive oxygen species and releasing the contents of their granules into phagosomes and the extracellular medium. Epithelial cells maintain their shape and use villi to remove pathogens and waste materials. The underlying mechanisms for these activities are closely associated with reorganization of the cytoskeleton. This reorganization is a cyclic process that includes polymerization of G-actin to filaments, crosslinking of filaments to form supramolecular assemblies anchored to membranes, and depolymerization of F-actin to G-actin (Moraczewska et al. 1996) (Fig. 1).

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References

  • Ambruso, D. R., Knall, C., Abell, A. N., Panepinto, J., Kurkchubasche, A., Thuman, G., Gonzales-Aller, C., Hiester, A., deBoer, M., Harbeck, R. J., Oyer, R., Johnson, G. L. and Roos, D. 2000. Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc. Natl Acad. Sci. USA 97, 4654-4659.

    Article  CAS  PubMed  Google Scholar 

  • Boxer, L. A., Hedley-Whyte, E. T. and Stossel, T. P. 1974. Neutrophil actin dysfunction and abnormal neutrophil behavior. N. Engl. J. Med. 291, 1093-1099.

    Article  CAS  PubMed  Google Scholar 

  • Coates, T. D., Torkildson, J. C., Torres, M., Church, J. A. and Howard, T. H. 1991. An inherited defect of neutrophil motility and microfilamentous cytoskeleton associated with abnormalities in 47 kD and 89 kD proteins. Blood 78, 1338-1346.

    CAS  PubMed  Google Scholar 

  • Drummond, D. R., Hennessey, E. S. and Sparrow, J. C. 1991. Characterisation of missense mutations in the Act88F gene of Drosophila melanogaster. Mol. Genet. 226,70-80.

    Article  CAS  Google Scholar 

  • Fox, S. E., Lu, W., Maheshwari, A., Christensen, R. D. and Calhoun, D. A. 2005. The effects and comparative differences of neutrophil specific chemokines on neutrophil chemotaxis of the neonate. Cytokine 29, 135-140.

    Article  CAS  PubMed  Google Scholar 

  • Gallagher, P. G. and Forget, B. G. 1998. Hematologically important mutations: spectrin and ankyrin variants in hereditary spherocytosis. Blood Cells Mol. Dis. 24, 539-543.

    Article  CAS  PubMed  Google Scholar 

  • Gallego, M. D., de la Fuente, M. A., Anton, I. M., Snapper, S., Fuhlbrigge, R. and Geha, R. S. 2005. WIP and WASP play complementary roles in T cell homing and chemotaxis to SDF-1 α. Int. Immunol. 18, 221-232.

    Article  PubMed  CAS  Google Scholar 

  • Huttenlocher, P. R., Taravath, S. and Mojtahedi, S. 1994. Periventricular heterotopia and epilepsy. Neurology 44, 51-55.

    CAS  PubMed  Google Scholar 

  • Jacobelli, J., Chmura, S. A., Buxton, D. B., Davis, M. M. and Krummel, M. F. 2004. A single class II myosin modulates T cell motility and stopping, but not synapse formation. Nat. Immunol. 5, 531-538.

    Article  CAS  PubMed  Google Scholar 

  • Jones, G. E. 2000. Cellular signaling in macrophage migration and chemotaxis. J. Leukoc. Biol. 68, 593-602.

    CAS  PubMed  Google Scholar 

  • Kaplan, J. M., Kim, S. H., North, K. N., Rennke, H., Correia, L. A., Tong, H. Q., Mathis, B. J., Rodriguez-Perez, J. C., Allen, P. G., Beggs, A. H. and Pollak, M. R. 2000. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat. Genet. 24, 251-256.

    Article  CAS  PubMed  Google Scholar 

  • Krakow, D., Robertson, S. P., King, L. M., Morgan, T., Sebald, E. T., Bertolotto, C., Wachsmann-Hogiu, S., Acuna, D., Shapiro, S. S., Takafuta, T., Aftimos, S., Kim, C. A., Firth, H., Steiner, C. E., Cormier-Daire, V., Superti-Furga, A., Bonafe, L., Graham, J. M. Jr., Grix, A., Bacino, C. A., Allanson, J., Bialer, M. G., Lachman, R. S., Rimoin, D. L. and Cohn, D. H. 2004. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat. Genet. 36,405-410.

    Article  CAS  PubMed  Google Scholar 

  • Kurkchubasche, A. G., Panepinto, J. A., Tracy, T. F. Jr., Thurman, G. W. and Ambruso, D. R. 2001. Clinical features of a human Rac2 mutation: A complex neutrophil dysfunction disease. J. Pediatr. 139, 141-147.

    Article  CAS  PubMed  Google Scholar 

  • Li, Y., Guerrero, A. and Howard, T. H. 1995. The actin-binding protein, lymphocytespecific protein 1, is expressed in human leukocytes and human myeloid and lymphoid cell lines. J. Immunol. 155, 3563-3569.

    CAS  PubMed  Google Scholar 

  • Maury, C. P. J., Alli, K. and Baumann, M. 1990. Finnish hereditary amyloidosis: Amino acid sequence homology between the amyloid fibril protein and human plasma gelsolin. FEBS Lett. 260, 85-87.

    Article  CAS  PubMed  Google Scholar 

  • Moraczewska, J., Strzelecka-Golaszewska, H., Moens, P. D. J. and dos Remedios, C. G. 1996. Structural changes in the small domain of actin detected by fluorescence resonance energy transfer spectroscopy. Biochem. J. 317, 605-611.

    CAS  PubMed  Google Scholar 

  • Nobes, C. D. and Hall, A. 1999. Rho GTPases control polarity, protrusion, and adhesion during cell movement. J. Cell Biol. 144, 1235-1244.

    Article  CAS  PubMed  Google Scholar 

  • Nunoi, H., Yamazaki, T., Tsuchiya, H., Kato, S., Malech, H. L., Matsuda, I. and Kanegasaki, S. 2000. A heterozygous mutation of β-actin associated with neutrophil dysfunction and recurrent infection. Proc. Natl Acad. Sci. USA 96, 8693-8698.

    Article  Google Scholar 

  • Procaccio, V., Salazar, G., Ono, S., Styers, M. L., Gearing, M., Davila, A., Jimenez, R., Juncos, J., Gutekunst, C. A., Meroni, G., Fontanella, B., Sontag, E., Sontag, J. M., Faunde, V. and Wainer, B. H. 2006. A mutation of beta-actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. Am. J. Hum. Genet. 78, 947-960.

    Article  CAS  PubMed  Google Scholar 

  • Rendtorff, N. D., Zhu, M., Fagerheim, T., Antal, T. L., Jones, M., Teslovich, T. M., Gillanders, E. M., Barmada, M., Teig, E., Trent, J. M., Friderici, K. H., Stephan, D. A. and Tranebjaerg, L. 2006. A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. Eur. J. Hum. Genet. 14, 1097-1105.

    Article  CAS  PubMed  Google Scholar 

  • Schleicher, M., Andre, B., Andreoli, C., Eichinger, L., Haugwitz, M., Hofmann, A., Karakesisoglou, J., Stockelhuber, M. and Noegel, A. A. 1995. Structure/function studies on cytoskeletal proteins in Dictyostelium amoebae as a paradigm. FEBS Lett. 369, 38-42.

    Article  CAS  PubMed  Google Scholar 

  • Seri, M., Cusano, R., Gangarossa, S., Caridi, G., Bordo, D., Lo Nigro, C., Ghiggeri, G. M., Ravazzolo, R., Savino, M., Del Vecchio, M., d’Apolito, M., Iolascon, A., Zelante, L. L., Savoia, A., Balduini, C. L., Noris, P., Magrini, U., Belletti, S., Heath, K. E., Babcock, M., Glucksman, M. J., Aliprandis, E., Bizzaro, N., Desnick, R. J. and Martignetti, J. A. 2000. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat. Genet. 26, 103-105.

    Article  CAS  PubMed  Google Scholar 

  • Southwick, F. S., Dabiri, G. A. and Stossel, T. P. 1988. Neutrophil actin dysfunction is a genetic disorder associated with partial impairment of neutrophil actin assembly in three family members. J. Clin. Invest. 2, 1525-1531.

    Article  Google Scholar 

  • Southwick, F. S., Howard, T. H., Holbrook, T., Anderson, D. C., Stossel, T. P. and Arnaout, M. A. 1989. The relationship between CR3 deficiency and neutrophil actin assembly. Blood 73, 1973-1979.

    CAS  PubMed  Google Scholar 

  • Sullivan, S. E., Staba, S. L., Gersting, J. A., Hutson, A. D., Theriaque, D., Christensen, R. D. and Calhoun, D. A. 2002. Circulating concentrations of chemokines in cord blood, neonates, and adults. Pediatr. Res. 51, 653-657.

    Article  CAS  PubMed  Google Scholar 

  • Terashima, Y., Onai, N., Murai, M., Enomoto, M., Poonpiriya, V., Hamada, T., Motomura, K., Suwa, M., Ezaki, T., Haga, T., Kenegasaki, S. and Matsushima, K. 2005. Pivotal function for cytoplasmic protein FROUNT in CCR2-mediated monocyte chemotaxis. Nat. Immunol. 6, 827-835.

    Article  CAS  PubMed  Google Scholar 

  • van Wijk, E., Krieger, E., Kemperman, M. H., De Leenheer, E. M., Huygen, P. L., Cremers, C. W., Cremers, F. P. and Kremer, H. 2003, A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). J. Med. Genet. 40, 879-884.

    Article  CAS  PubMed  Google Scholar 

  • Weinberger, B., Laskin, D. L., Mariano, T. M., Sunil, V. R., DeCoste, C. J., Heck, D. E., Gardner, C. R. and Laskin, J. D. 2001. Mechanisms underlying reduced responsiveness of neonatal neutrophils to distinct chemoattractants. J. Leukoc. Biol. 70, 969-976.

    CAS  PubMed  Google Scholar 

  • Williams, D. A., Tao, W., Yang, F., Kim, C., Gu, Y., Mansfield, P., Levine, J. E., Petryniak, B., Derrow, C. W., Harris, C., Jia, B., Zheng, Y., Ambruso, D. R., Lowe, J. B., Atkinson, S. J., Dinauer, M. C. and Boxer, L. 2000. Dominant negative mutation of the hematopoietic-specific rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency. Blood 96, 1646-1654.

    CAS  PubMed  Google Scholar 

  • Witke, W., Sharpe, A. H., Hartwig, J. H., Azuma, T., Stossel, T. P. and Kwiatkowski, D. J. 1995. Hemostatic, inflammatory, and fibroblast responses are blunted in mice lacking gelsolin. Cell 81, 41-51.

    Article  CAS  PubMed  Google Scholar 

  • Wolach, B., Gavrieli, R. and Pomeranz, A. 2000. Effect of granulocyte and granulocyte macrophage colony stimulating factors (G-CSF and GM-CSF) on neonatal neutrophil functions. Pediatr. Res. 48, 369-373.

    Article  CAS  PubMed  Google Scholar 

  • Zhu, M., Yang, T., Wei, S., DeWan, A. T., Morell, R. J., Elfenbein, J. L., Fisher, R. A., Leal, S. M., Smith, R. J. and Friderici K. H. 2003. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Am. J. Hum. Genet. 73, 1082-1091.

    Article  CAS  PubMed  Google Scholar 

  • Zicha, D., Allen, W. E., Brickell, P. M., Kinnon, C., Dunn, G. A., Jones, G. E. and Thrasher, A. J. 1998. Chemotaxis of macrophages is abolished in the Wiskott-Aldrich syndrome. Br. J. Haematol. 101, 659-665.

    Article  CAS  PubMed  Google Scholar 

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Nunoi, H. (2008). Diseases with Abnormal Actin and Actin-Binding Proteins in Leukocyte and Nonmuscle Cells. In: dos Remedios, C.G., Chhabra, D. (eds) Actin-Binding Proteins and Disease. Protein Reviews, vol 8. Springer, New York, NY. https://doi.org/10.1007/978-0-387-71749-4_11

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