The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity

Human Molecular Genetics

Volumn 18, Issue 18, 2009, Pages 3452-3461

  Tortajada, Agustín ^a   Montes, Tamara ^a   Martínez Barricarte, Rubén ^a   Morgan, B Paul ^b   Harris, Claire L ^a,b   de Córdoba, Santiago Rodríguez ^a,b  

^a CENTRO DE INVESTIGACIONES BIOLÓGICAS   (Spain)

^b CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C3B; COMPLEMENT FACTOR H; ISOLEUCINE;

ALLOTYPE; ARTICLE; BINDING AFFINITY; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; HUMAN EXPERIMENT; NORMAL HUMAN; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN BLOOD LEVEL; PROTEIN DEGRADATION; PROTEIN PURIFICATION; SURFACE PLASMON RESONANCE;

COMPLEMENT C3B; COMPLEMENT FACTOR B; COMPLEMENT FACTOR H; ENZYME-LINKED IMMUNOSORBENT ASSAY; HUMANS; ISOLEUCINE; POLYMORPHISM, GENETIC; PROTEIN BINDING; SURFACE PLASMON RESONANCE;

EID: 69449090499     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp289     Document Type: Article

References (37)

1. Law, S. and Reid, K. (1995) Complement, 2nd edn. IRL Press, Oxford, UK.
2. Pangburn, M.K., Schreiber, R.D. and Müller-Eberhard, H.J. (1977) Human complement C3b inactivator: Isolation, characterization, and demonstration of an absolute requirement for the serum protein beta1H for cleavage of C3b and C4b in solution. J. Exp. Med., 146, 257-270.
3. Weiler, J.M., Daha, M.R., Austen, K.F. and Fearon, D.T. (1976) Control of the amplification convertase of complement by the plasma protein beta1H. Proc. Natl Acad. Sci. USA, 73, 3268-3272.
4. Whaley, K. and Ruddy, S. (1976) Modulation of the alternative complement pathway by beta1H globulin. J. Exp. Med., 144, 1147-1163.
5. Fearon, D.T. (1978) Regulation by membrane sialic acid of beta1H-dependent decay-dissociation of amplification C3 convertase of the alternative complement pathway. Proc. Natl Acad. Sci. USA, 75, 1971-1975.
6. Kazatchkine, M.D., Fearon, D.T. and Austen, K.F. (1979) Human alternative complement pathway: Membrane-associated sialic acid regulates the competition between B and beta1H for cell-bound C3b. J. Immunol., 122, 75-81.
7. Pangburn, M.K., Schreiber, R.D. and Muller Eberhard, H.J. (1983) C3b deposition during activation of the alternative complement pathway and the effect of deposition on the activating surface. J. Immunol., 131, 1930-1935.
8. Ripoche, J., Day, A.J., Harris, T.J.R. and Sim, R.B. (1988) The complete amino acid sequence of human complement factor H. Biochem. J., 249, 593-602.
9. Rodriguez de Cordoba, S., Esparza-Gordillo, J., Goicoechea de Jorge, E., Lopez-Trascasa, M. and Sanchez-Corral, P. (2004) The human complement factor H: Functional roles, genetic variations and disease associations. Mol. Immunol., 41, 355-367.
10. Dragon-Durey, M.-A., Fremeaux-Bacchi, V., Loirat, C., Blouin, J., Niaudet, P., Deschenes, G., Coppo, P., Herman Fridman, W. and Weiss, L. (2004) Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. J. Am. Soc. Nephrol., 15, 787-795.
11. Levy, M., Halbwachs-Mecarelli, L. and Gubler, M.C. (1986) H deficiency in two brothers with atypical dense intramembranous deposit disease. Kidney Int., 30, 949-956.
12. Licht, C., Heinen, S., Józsi, M., Löschmann, I., Saunders, R.E., Perkins, S.J., Waldherr, R., Skerka, C., Kirschfink, M., Hoppe, B. et al. (2006) Deletion of Lys224 in regulatory domain 4 of factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). Kidney Int., 70, 42-50.
13. López-Larrea, C., Dieguez, M.A., Enguix, A., Dominguez, O., Marin, B. and Gómez, E. (1987) A familial deficiency of complement factor H. Biochem. Soc. T., 15, 648-649.
14. Perez-Caballero, D., Gonzalez-Rubio, C., Esther Gallardo, M., Vera, M., Lopez-Trascasa, M., Rodriguez de Cordoba, S. and Sanchez-Corral, P. (2001) Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. Am. J. Hum. Genet. 68, 478-484.
15. Caprioli, J., Castelletti, F., Bucchioni, S., Bettinaglio, P., Bresin, E., Pianetti, G., Gamba, S., Brioschi, S., Daina, E., Remuzzi, G. et al. (2003) Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: The C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. Hum. Mol. Genet., 12, 3385-3395.
16. Richards, A., Buddles, M.R., Donne, R.L., Kaplan, B.S., Kirk, E., Venning, M.C., Tielemans, C.L., Goodship, J.A. and Goodship, T.H.J. (2001) Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. Am. J. Hum. Genet., 68, 485-490.
17. Warwicker, P., Goodship, T.H.J., Donne, R.L., Pirson, Y., Nicholls, A., Ward, R.M., Turnpenny, P. and Goodship, J.A. (1998) Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney Int., 53, 836-844.
18. Hageman, G.S., Anderson, D.H., Johnson, L.V., Hancox, L.S., Taiber, A.J., Hardisty, L.I., Hageman, J.L., Stockman, H.A., Borchardt, J.D., Gehrs, K.M. et al. (2005) A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc. Natl Acad. Sci. USA, 102, 7227-7232.
19. Edwards, A.O., Ritter, R., Abel, K.J., Manning, A., Panhuysen, C. and Farrer, L.A. (2005) Complement factor H polymorphism and age-related macular degeneration. Science, 308, 421-424.
20. Haines, J.L., Hauser, M.A., Schmidt, S., Scott, W.K., Olson, L.M., Gallins, P., Spencer, K.L., Kwan, S.Y., Noureddine, M., Gilbert, J.R. et al. (2005) Complement factor H variant increases the risk of age-related macular degeneration. Science, 308, 419-421.
21. Klein, R.J., Zeiss, C., Chew, E.Y., Tsai, J.-Y., Sackler, R.S., Haynes, C., Henning, A.K., SanGiovanni, J.P., Mane, S.M., Mayne, S.T. et al. (2005) Complement factor H polymorphism in age-related macular degeneration. Science, 308, 385-389.
22. Pickering, M.C., Goicoechea de Jorge, E., Martinez-Barricarte, R., Recalde, S., Garcia-Layana, A., Rose, K.L., Moss, J., Walport, M.J., Cook, H.T., Rodriguez de Cordoba, S. et al. (2007) Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains. J. Exp. Med., 204, 1249-1256.
23. Montes, T., Tortajada, A., Morgan, B.P., Rodriguez de Cordoba, S. and Harris, C.L. (2009) Functional basis of protection against age-related macular degeneration conferred by a common polymorphism in complement factor B. Proc. Natl Acad. Sci. USA, 106, 4366-4371.
24. Sharma, A.K. and Pangburn, M.K. (1996) Identification of three physically and functionally distinct binding sites for C3b in human complement factor H by deletion mutagenesis. Proc. Natl Acad. Sci. USA, 93, 10996-11001.
25. Schmidt, C.Q., Herbert, A.P., Kavanagh, D., Gandy, C., Fenton, C.J., Blaum, B.S., Lyon, M., Uhrin, D. and Barlow, P.N. (2008) A new map of glycosaminoglycan and C3b binding sites on factor H. J. Inmunol., 181, 2610-2619.
26. Kuhn, S., Skerka, C. and Zipfel, P.F. (1995) Mapping of the complement regulatory domains in the human factor H-like protein I and in factor H. J. Immunol., 155, 5663-5670.
27. Gordon, D.L., Kaufman, R.M., Blackmore, T.K., Kwong, J. and Lublin, D.M. (1995) Identification of complement regulatory domains in human factor H. J. Immunol., 155, 348-356.
28. Goicoechea De Jorge, E., Harris, C.L., Esparza-Gordillo, J., Carreras, L., Aller Arranz, E., Abarrategui Garrido, C., Lopez-Trascasa, M., Sanchez-Corral, P., Morgan, B.P. and Rodriguez De Cordoba, S. (2007) Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc. Natl Acad. Sci. USA, 104, 240-245.
29. Torreira, E., Tortajada, A., Montes, T., Rodriguez de Cordoba, S. and Llorca, O. (2009) 3D structure of the C3bB complex provides insights into the activation and regulation of the complement alternative pathway convertase. Proc. Natl Acad. Sci. USA, 106, 882-887.
30. Harris, C.L., Abbott, R.J.M., Smith, R.A., Morgan, B.P. and Lea, S.M. (2005) Molecular dissection of interactions between components of the alternative pathway of complement and decay accelerating factor (CD55). J. Biol. Chem., 280, 2569-2578.
31. Rodriguez de Cordoba, S. and Goicoechea de Jorge, E. (2008) Translational mini-review series on complement factor H: Genetics and disease associations of human complement factor H. Clin. Exp. Immunol., 151, 1-13.
32. Montes, T., Goicoechea de Jorge, E., Ramos, R., Goma, M., Pujol, O., Sanchez-Corral, P. and Rodriguez de Cordoba, S. (2008) Genetic deficiency of complement factor H in a patient with age-related macular degeneration and membranoproliferative glomerulonephritis. Mol. Immunol., 45, 2897-2904.
33. Hocking, H.G., Herbert, A.P., Kavanagh, D., Soares, D.C., Ferreira, V.P., Pangburn, M.K., Uhrin, D. and Barlow, P.N. (2008) Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations. J. Biol. Chem., 283, 9475-9487.
34. Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 16, 1215.
35. Hakobyan, S., Harris, C.L., Tortajada, A., Goicochea de Jorge, E., Garcia-Layana, A., Fernandez-Robredo, P., Rodriguez de Cordoba, S. and Morgan, B.P. (2008) Measurement of factor H variants in plasma using variant-specific monoclonal antibodies: Application to assessing risk of age-related macular degeneration. Invest. Ophthalmol. Vis. Sci., 49, 1983-1990.
36. Sanchez-Corral, P., Anton, L.C., Alcolea, J.M., Marques, G., Sanchez, A. and Vivanco, F. (1989) Separation of active and inactive forms of the third component of human complement C3, by fast protein liquid chromatography (FPLC). J. Inmunol., 122, 105-113.
37. Hepburn, N.J., Williams, A.S., Nunn, M.A., Chamberlain-Banoub, J.C., Hamer, J., Morgan, B.P. and Harris, C.L. (2007) In vivo characterization and therapeutic efficacy of a C5-specific inhibitor from the soft tick ornithodoros moubata. J. Biol. Chem., 282 8292-8299.