Abstract
Factor H is a major regulatory protein of the complement system. The complete cDNA coding sequence has been derived from overlapping clones, and a polymorphism at base 1277 has been characterized. In four clones there is a T at nucleotide 1277 and in two others there is a C. This T/C change represents a tyrosine/histidine polymorphism at position 384 in the derived amino acid sequence. Protein sequence studies on peptides generated by trypsin digestion of factor H, purified from pooled plasma from 12 donors, confirmed the presence of both tyrosine and histidine at this position. Tyrosine and histidine were observed in a ratio of 2 : 1, respectively, and therefore this polymorphism is likely to represent a sequence difference between the two most abundant charge variants, FH1 and FH2, of factor H.
Similar content being viewed by others
References
Christie, D. L. and Gagnon, J.: Isolation, characterization and N-terminal sequences of the CNBr-cleavage peptides from human complement factor B. Biochem. J. 201: 555–567, 1982
Day, A. J. and Sim, R. B.: Inhibitory effect of Zn2+ ions on the degradation of the complement activation fragment C3b. Biochem. Soc. Trans. 14: 73–74, 1986
Day, A. J., Ripoche, J., Lyons, A., McIntosh, B., Harris, T. J. R., and Sim, R. B.: Sequence analysis of a cDNA clone encoding the Cterminal end of human complement factor H. Biosci. Rep. 7: 201–207, 1987
Hewick, R. M., Hunkapiller, M. W., Hood, L. E., and Dreyer, W. J.: A gas-liquid solid phase peptide and protein sequenator. J. Biol. Chem. 256: 7990–7997, 1981
Johnson, D. M. A., Gagnon, J., and Reid, K. B. M.: Factor D of the alternative pathway of human complement. Purification, alignment and N-terminal amino acid sequences of the major cyanogen bromide fragments, and localization of the serine residue at the active site. Biochem. J. 187: 863–874, 1980
Klickstein, L. B., Wong, W. W., Smith, J. A., Weis, J. H., Wilson, J. G., and Fearon, D. T.: Human C3b/C4b receptor (CR1). Demonstration of long homologous repeating domains that are composed of the short consensus repeats characteristic of C3/C4 binding proteins. J. Exp. Med. 165: 1093–1112, 1987
Koide, A., Titani, K., Ericsson, L. H., Kumar, S., Neurath, H., and Nath, K. A.: Sequence of the amino-terminal 349 residues of rabbit muscle glycogen phosphorylase including sites of covalent and allosteric control. Biochemistry 17: 5657–5672, 1978
Kristensen, T., Wetsel, R. A., and Tack, B. F.: Structural analysis of human complement protein H: homology with the Ba fragment of B, C4b binding protein and β 2-glycoprotein I. J. Immunol. 136: 3407–3411, 1986
Ripoche, J., Day, A. J., Willis, A. C., Belt, K. T., Campbell, R. D., and Sim, R. B.: Partial characterization of human complement factor H by protein and cDNA sequencing: homology with other complement and non-complement proteins. Biosci. Rep. 6: 65–71, 1986
Ripoche, J., Day, A. J., Harris, T. J. R., and Sim, R. B.: Complete amino acid sequence of human complement factor H. Biochem. J., in press, 1988
Rodriguez de Cordoba, S. and Rubinstein, P.: Genetic polymorphism of human factor H (β1H). J. Immunol. 132: 1906–1908, 1984
Rodriguez de Cordoba, S. and Rubinstein, P.: Quantitative variations of the Cab/C4b receptor (CR1) in human erythrocytes are controlled by genes within the regulation of complement activation (RCA) gene cluster. J. Exp. Med. 164: 1274–1283, 1986
Rodriguez de Cordoba, S. and Rubinstein, P.: New alleles of C4-binding protein and factor H and further linkage data in the regulation of complement activation (RCA) gene cluster in man. Immunogenetics 25: 267–268, 1987
Schulz, T. F., Schwäble, W., Stanley, K. K., Weiß, E., and Dierich, M. P.: Human complement factor H: isolation of cDNA clones and partial cDNA sequence of the 38-kDa tryptic fragment containing the binding site for C3b. Eur. J. Immunol. 16: 1351–1355, 1986
Sim, R. B. and DiScipio, R. G.: Purification and structural studies on the complement system control protein β1H (factor H). Biochem. J. 205: 285–293, 1982
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Day, A.J., Willis, A.C., Ripoche, J. et al. Sequence polymorphism of human complement factor H. Immunogenetics 27, 211–214 (1988). https://doi.org/10.1007/BF00346588
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00346588