Functional SNPs in the human ficolin (FCN) genes reveal distinct geographical patterns

Molecular Immunology

Volumn 45, Issue 9, 2008, Pages 2508-2520

  Hummelshøj, Tina ^a   Munthe Fog, Lea ^a   Madsen, Hans O ^a   Garred, Peter ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Complement; FCN; Ficolins; Innate immunity; Lectin pathway

Indexed keywords

AMINO ACID; ARGININE; ASPARTIC ACID; CYSTEINE; FICOLIN; GLYCINE; METHIONINE; SERINE; THREONINE;

ARGENTINA; ARTICLE; CAUCASIAN; DNA POLYMORPHISM; DNA SEQUENCE; ETHNIC DIFFERENCE; ETHNIC GROUP; FICOLIN 2 GENE; FICOLIN 3 GENE; FICONLIN 1 GENE; GENE; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; JAPANESE; MATHEMATICAL COMPUTING; PHYSICAL CHEMISTRY; POPULATION; POPULATION GENETICS; PRIORITY JOURNAL; PROTEIN DOMAIN; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

ALLELES; ETHNIC GROUPS; EXONS; GENOTYPE; HAPLOTYPES; HUMANS; LECTINS; LINKAGE DISEQUILIBRIUM; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); VARIATION (GENETICS);

EID: 40849133748     PISSN: 01615890     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molimm.2008.01.003     Document Type: Article

References (24)

1. Akaiwa M., Yae Y., Sugimoto R., Suzuki S.O., Iwaki T., Izuhara K., and Hamasaki N. Hakata antigen, a new member of the ficolin/opsonin p35 family, is a novel human lectin secreted into bronchus/alveolus and bile. J. Histochem. Cytochem. 47 (1999) 777-786
2. Cedzynski M., Nuytinck L., Atkinson A.P., St S.A., Zeman K., Szemraj J., Szala A., Turner M.L., and Kilpatrick D.C. Extremes of l-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene. Clin. Exp. Immunol. 150 (2007) 99-104
3. Chen X., Katoh Y., Nakamura K., Oyama N., Kaneko F., Endo Y., Fujita T., Nishida T., and Mizuki N. Single nucleotide polymorphisms of Ficolin 2 gene in Behcet's disease. J. Dermatol. Sci. 43 (2006) 201-205
4. Endo Y., Sato Y., Matsushita M., and Fujita T. Cloning and characterization of the human lectin P35 gene and its related gene. Genomics 36 (1996) 515-521
5. Endo Y., Matsushita M., and Fujita T. Role of ficolin in innate immunity and its molecular basis. Immunobiology 212 (2007) 371-379
6. Garlatti V., Belloy N., Martin L., Lacroix M., Matsushita M., Endo Y., Fujita T., Fontecilla-Camps J.C., Arlaud G.J., Thielens N.M., and Gaboriaud C. Structural insights into the innate immune recognition specificities of L- and H-ficolins. EMBO J. 26 (2007) 623-633
7. Garlatti V., Martin L., Gout E., Reiser J.B., Fujita T., Arlaud G.J., Thielens N.M., and Gaboriaud C. Structural basis for innate immune sensing by M-ficolin and its control by a pH-dependent conformational switch. J. Biol. Chem. 282 (2007) 35814-35820
8. Garred P., Larsen F., Seyfarth J., Fujita R., and Madsen H.O. Mannose-binding lectin and its genetic variants. Genes Immun. 7 (2006) 85-94
9. Grantham R. Amino acid difference formula to help explain protein evolution. Science 185 (1974) 862-864
10. Herpers B.L., Immink M.M., de Jong B.A., van Velzen-Blad H., de Jongh B.M., and van Hannen E.J. Coding and non-coding polymorphisms in the lectin pathway activator L-ficolin gene in 188 Dutch blood bank donors. Mol. Immunol. 43 (2006) 851-855
11. Hummelshoj T., Munthe-Fog L., Madsen H.O., Fujita T., Matsushita M., and Garred P. Polymorphisms in the FCN2 gene determine serum variation and function of Ficolin-2. Hum. Mol. Genet. 14 (2005) 1651-1658
12. Hummelshoj T., Munthe-Fog L., Madsen H.O., Sim R.B., and Garred P. Comparative study of the human ficolins reveals unique features of Ficolin-3 (Hakata antigen). Mol. Immunol. 45 (2008) 1623-1632
13. Kilpatrick D.C., Fujita T., and Matsushita M. P35, an opsonic lectin of the ficolin family, in human blood from neonates, normal adults, and recurrent miscarriage patients. Immunol. Lett. 67 (1999) 109-112
14. Larsen F., Madsen H.O., Sim R.B., Koch C., and Garred P. Disease-associated mutations in human mannose-binding lectin compromise oligomerization and activity of the final protein. J. Biol. Chem. 279 (2004) 21302-21311
15. Leabman M.K., Huang C.C., DeYoung J., Carlson E.J., Taylor T.R., De La C.M., Johns S.J., Stryke D., Kawamoto M., Urban T.J., Kroetz D.L., Ferrin T.E., Clark A.G., Risch N., Herskowitz I., and Giacomini K.M. Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc. Natl. Acad. Sci. U.S.A. 100 (2003) 5896-5901
16. Matsushita M., Endo Y., Taira S., Sato Y., Fujita T., Ichikawa N., Nakata M., and Mizuochi T. A novel human serum lectin with collagen- and fibrinogen-like domains that functions as an opsonin. J. Biol. Chem. 271 (1996) 2448-2454
17. Miller S.A., Dykes D.D., and Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16 (1988) 1215
18. Munthe-Fog L., Hummelshoj T., Hansen B.E., Koch C., Madsen H.O., Skjodt K., and Garred P. The impact of FCN2 polymorphisms and haplotypes on the Ficolin-2 serum levels. Scand. J. Immunol. 65 (2007) 383-392
19. Munthe-Fog L., Hummelshoj T., Ma Y.J., Hansen B.E., Koch C., Madsen H.O., Skjodt K., and Garred P. Characterization of a polymorphism in the coding sequence of FCN3 resulting in a Ficolin-3 (Hakata antigen) deficiency state. Mol. Immunol 45 (2008) 2660-2666
20. Ohashi T., and Erickson H.P. Oligomeric structure and tissue distribution of ficolins from mouse, pig and human. Arch. Biochem. Biophys. 360 (1998) 223-232
21. Phaneuf L.R., Lillie B.N., Hayes M.A., and Turner P.V. Single nucleotide polymorphisms in mannan-binding lectins and ficolins in various strains of mice. Int. J. Immunogenet. 34 (2007) 259-267
22. Shu Y., Leabman M.K., Feng B., Mangravite L.M., Huang C.C., Stryke D., Kawamoto M., Johns S.J., DeYoung J., Carlson E., Ferrin T.E., Herskowitz I., and Giacomini K.M. Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1. Proc. Natl. Acad. Sci. U.S.A. 100 (2003) 5902-5907
23. Sugimoto R., Yae Y., Akaiwa M., Kitajima S., Shibata Y., Sato H., Hirata J., Okochi K., Izuhara K., and Hamasaki N. Cloning and characterization of the Hakata antigen, a member of the ficolin/opsonin p35 lectin family. J. Biol. Chem. 273 (1998) 20721-20727
24. Tanio M., Kondo S., Sugio S., and Kohno T. Trivalent recognition unit of innate immunity system: crystal structure of trimeric human M-ficolin fibrinogen-like domain. J. Biol. Chem. 282 (2007) 3889-3895