The human complement component C1R gene: The exon-intron structure and the molecular basis of allelic diversity

Annals of Human Genetics

Volumn 67, Issue 3, 2003, Pages 207-215

  Nakagawa, M ^a   Yuasa, Isao ^a   Irizawa, Y ^a   Umetsu, K ^b  

^a TOTTORI UNIVERSITY   (Japan)

^b YAMAGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AMINO ACID; ARGININE; ASPARTIC ACID; COMPLEMENT COMPONENT C1R; COMPLEMENTARY DNA; CYSTEINE; EPIDERMAL GROWTH FACTOR; GLUTAMIC ACID; GLYCINE; HISTIDINE; LEUCINE; SERINE; THREONINE; TYROSINE;

ALLELE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BLOOD SAMPLING; COMPLEMENT SYSTEM; CONTROLLED STUDY; EXON; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE STRUCTURE; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IMMUNITY; INTRON; ISOELECTRIC FOCUSING; LINKAGE ANALYSIS; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SPECIES DIFFERENCE; START CODON; STOP CODON; AMINO ACID SEQUENCE; ANIMAL; CHROMOSOME MAP; COMPARATIVE STUDY; FEMALE; GENETICS; MALE; MOLECULAR GENETICS; MUTATION; PHYLOGENY; POLYMERASE CHAIN REACTION;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; COMPLEMENT C1R; EXONS; FEMALE; HUMANS; INTRONS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PHYLOGENY; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 1542360093     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-1809.2003.00019.x     Document Type: Article

References (28)

1. Arlaud, G. J., Colomb, M. G. & Gagnon, J. (1987a) A functional model of the human C1 complex. Immunol Today 8, 106-111.
2. Arlaud, G. J., Willis, A. C. & Gagnon, J. (1987b) Complete amino acid sequence of the A chain of human complement-classical-pathway enzyme C1r. Biochem J 241, 711-720.
3. Bork, P. & Beckmann, G. (1993) The CUB domain. A widespread module in developmentally regulated proteins. J Mol Biol 231, 539-545.
4. Byun, S. J., Bahk, Y. Y., Ryoo, Z. Y., Kim, K. E., Hwang, H. Y., Lee, J. W., Yi, J. Y. & Kim, T. Y. (2001) Identification of cDNA encoding a serine protease homologous to human complement C1r precursor from grafted mouse skin. J Invest Dermatol 116, 374-379.
5. Endo, Y., Sato, T., Matsushita, M. & Fujita, T. (1996) Exon structure of the gene coding the human mannose-binding protein-associated serine protease light chain: comparison with complement C1r and C1s genes. Int Immunol 8, 1355-1358.
6. Endo, Y., Takahashi, M., Nakao, M., Saiga, H., Sekine, H., Matsushita, M., Nonaka, M. & Fujita, T. (1998) Two lineages of mannose-binding lectin-associated serine protease (MASP) in vertebrates. J Immunol 161, 4524-4930.
7. Gaboriaud, C., Rossi, V., Fontecilla-Camps, J. C. & Arlaud, G. J. (1998) Evolutionary conserved rigid module-domain interactions can be detected at the sequence level: the examples of complement and blood coagulation proteases. J Mol Biol 282, 459-470.
8. Gál, P. & Závodszky, P. (1998) Structure and function of the serine-protease subcomponents of C1: protein engineering studies. Immmunobiology 199, 317-326.
9. Hartl, D. L. & Clark, A. G. (1997) Principles of population genetics, 3rd edition. Sunderland: Sinauer Associates.
10. Journet, A. & Tosi, M. (1986) Cloning and sequencing of full-length cDNA encoding the precursor of human complement component C1r. Biochem J 240, 783-787.
11. Kamboh, M. I. & Ferrell, R. E. (1986) Genetic studies of low abundance human plasma proteins. III. Polymorphism of the C1R subcomponent of the first complement component. Am J Hum Genet 39, 826-831.
12. Kamboh, M. I., Lyons, L. A. & Ferrell, R. E. (1988) Genetic studies of low-abundance human plasma proteins. IX. A new allele at the complement subcomponent C1R structural locus. Hum Genet 81, 93-94.
13. Kamboh, M. I., Lyons, L. A. & Ferrell, R. E. (1989) Genetic studies of low-abundance human plasma proteins. XIII. Population genetics of C1R complement subcomponent and description of new variants. Am J Hum Genet 44, 148-153.
14. Kido, A., Komatsu, N., Kimura, Y. & Oya, M. (1991) C1R subcomponent polymorphism in Japanese: description of a new allele. Hum Hered 41, 129-133.
15. Kido, A., Susukida, R., Oya, M., Fujitani, N., Kimura, H. & Hara, M. (2000) Polymorphism of the C1R subcomponent of the first complement component in Indonesians, Bangladeshis, Tibetans, South Africa blacks, South Africa whites, and Samoans. Anthropol Sci 108, 283-288.
16. Kölble, K. & Reid, K. B. M. (1993) Genetic deficiencies of the complement system and association with disease-early components. Int Rev Immunol 10, 17-36.
17. Kusumoto, H., Hirosawa, S., Salier, J. P., Hagen, F. S. & Kurachi, K. (1988) Human genes for complement components C1r and C1s in a close tail-to-tail arrangement. Proc. Natl Acad Sci USA 85, 7307-7311.
18. Leytus, S. P., Kurachi, K., Sakariassen, K. S. & Davie, E. W. (1986) Nucleotide sequence of the cDNA coding for human complement C1r. Biochemistry 25, 4855-4863.
19. Mackinnon, C. M., Carter, P. E., Smyth, S. J., Dunbar, B. & Fothergill, J. E. (1987) Molecular cloning of cDNA for human complement component C1s. The complete amino acid sequence. Eur J Biochem 169, 547-553.
20. Nakamura, S., Ohue, O., Akiyama, K. & Abe, K. (1988) Genetic polymorphism of human C1R subcomponent of the first complement component in the Japanese population. Forens Sci Int 39, 71-76.
21. Nöthen, M. M. & Dewald, G. (1994) A common amino acid polymorphism in complement component C1R. Hum Mol Genet 3, 217.
22. Saitou, N. & Yamamoto, F. (1997) Evolution of primate ABO blood group genes and homologous genes. Mol Biol Evol 14, 399-411.
23. Schumaker, V. N., Zavodszky, P. & Poon, P. H. (1987) Activation of the first component of complement. Ann Rev Immunol 5, 21-42.
24. Sim, R. B. & Laich, A. (2000) Serine proteases of the complement system. Biochem Soc Trans 28, 545-550.
25. Tosi, M., Duponchel, C., Meo, T. & Julier, C. (1987) Complete cDNA sequence of human complement C1s and close physical linkage of the homologous genes C1s and C1r. Biochemistry 26, 8516-8524.
26. Tosi, M., Duponchel, C., Meo, T. & Couture-Tosi, E. (1989) Complement genes C1r and C1s feature an intronless serine protease domain closely related to haptoglobin. J Mol Biol 208, 709-714.
27. Umetsu, K., Yuasa, I., Suzuki, T., Sun, C. S., Pan, I. H., Ishida, T., Saitou, N. & Horai, S. (1994) Polymorphisms of complement component I and C1R subcomponent of C1 in nine aboriginal Taiwanese populations. Hum Biol 66, 339-348.
28. Van Cong, N., Tosi, M., Gross, M. S., Cohen-Haguenauer, O., Jegou-Foubert, C., Tand, M. F., Meo, T. & Frezal, J. (1988) Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13. Hum Genet 78, 363-368.