Molecular basis of human complement C1s deficiency

Journal of Immunology

Volumn 162, Issue 4, 1999, Pages 2180-2183

  Endo, Yuichi ^a   Kanno, Kazuko ^a   Takahashi, Minoru ^a   Yamaguchi, Ken Ichi ^b   Kohno, Yoichi ^b   Fujita, Teizo ^a  

^a FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^b CHIBA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C1S;

AMINO ACID SEQUENCE; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CARBOXY TERMINAL SEQUENCE; CASE REPORT; COMPLEMENT DEFICIENCY; EXON; GENE DELETION; GENE ISOLATION; GENE SEQUENCE; HUMAN; MALE; MOLECULAR DYNAMICS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

BASE SEQUENCE; BLOTTING, SOUTHERN; BLOTTING, WESTERN; CHILD; CHILD, PRESCHOOL; COMPLEMENT C1S; EXONS; FEMALE; GENES; HUMANS; MALE; NUCLEIC ACID HYBRIDIZATION; PEDIGREE; PEPTIDE FRAGMENTS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE DELETION;

EID: 0033558336     PISSN: 00221767     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. Cooper, N. R. 1985. The classical complement pathway: activation and regulation of the first complement component. Adv. Immunol. 37:151.
2. Tosi, M., C. Duponchel, T. Meo, and C. Julier. 1987. Complete cDNA sequence of human complement C1s and close physical linkage of the homologous genes C1s and C1r. Biochemistry 26:8516.
3. MacKinnon, C. M., P. E. Carter, S. J. Smyth, B. Dunbar, and J. E. Fothergill. 1987. Molecular cloning of cDNA for human complement component C1s. Eur. J. Biochem. 169:547.
4. Tosi, M., C. Duponchel, and T. Meo. 1989. Complement genes C1r and C1s feature an intronless serine protease domain closely related to haptoglobin. J. Mol. Biol. 208:709.
5. Van Cong, N., M. Tosi, M. S. Gross, O. Cohen-Haguenauer, C. Jegou-Foubert, M. F. de Tand, T. Meo, and J. Frezal. 1988. Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13. Hum. Genet. 78: 363.
6. Kusumoto, H., S. Hirosawa, J. P. Salier, F. S. Hagen, and K. Kurachi. 1988. Human genes for complement components C1r and C1s in a close tail-to-tail arrangement. Proc. Natl. Acad. Sci. USA 85.-7307.
7. Tosi, M., A. Journet, C. Duponchel, E. Couture-Tosi, and T. Meo. 1989. Human complement C1r and C1s proteins and genes: studies with molecular probes. Behring Inst. Mitt. 84:65.
8. Moncada, B., N. K. B. Day, R. A. Good, and D. Windhorst. 1972. Lupus erythematosus like syndrome with a familial defect of complement. N. Engl. J. Med. 286:689.
9. de Bracco, M. M. E., D. Windhorst, R. M. Stroud, and B. Moncada 1974. The autosomal recessive mode of inheritance of C1r deficiency in a large Puerto Rican family. Clin. Exp. Immunol. 16:183.
10. Stanley, L. L., L. W. Stanley, R. Barone, L. Blum, and P. H. Chase. 1978. Familial deficiency of two subunits of the first component of complement: C1r and C1s associated with a lupus erythematosus-like disease. Arthritis Rheum. 21:958.
11. McAdam, R. A., D. Goundis, and K. B. Reid. 1988. A homozygous point mutation results in a stop codon in the C1qB-chain of a C1q-deficient individual. Immunogenetics 27:259.
12. Suzuki, Y., Y. Ogura, O. Otsubo, K. Akagi, and T. Fujita. 1992. Selective deficiency of C1s associated with a systemic lupus erythematosus-like syndrome: report of a case. Arthritis Rheum. 35:576.
13. Chevailler, A., C. Drouet, D. Ponard, C. Alibeu, S. Suraniti, F. Carrere, G. Renier, D. Hurez, and M. G. Colomb. 1994. Non-coordinated biosynthesis of early complement components in a deficiency of complement proteins C1r and C1s. Scand. J. Immunol. 40:383.
14. Bowness, P., K. A. Davies, P. J. Norsworthy, P. Athanassiou, J. Taylor-Wiedeman, L. K. Borysiewicz, P. A. R. Meyer, and M. J. Walport. 1994. Hereditary C1q deficiency and systemic lupus erythematosus. Q. J. Med. 87:455.
15. Retry, F., D. T. Le, M. Kirschfink, and M. Loos. 1995. Non-sense and missense mutations in the structural genes of complement component C1qA and C chains are liked with two different types of complete selective C1q deficiencies. J. Immunol. 155:4734.
16. Slingsby, J H., P. Norsworthy, G. Pearce, A. K. Vaishnaw, H. Issler, B. J. Morley, and M. J. Walport. 1996. Homozygous hereditary C1q deficiency and systemic lupus erythematosus: a new family and the molecular basis of C1q deficiency in three families. Arthritis Rheum. 39:663.
17. Topaloglu, R., A. Bakkaloglu, J. H. Slingsby, M. J. Mihatsch, M. Pascual, P. Norsworthy, B. J. Morley, U. Saatci, J. A. Schifferli, and M. J. Walport. 1996. Molecular basis of heredilary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family. Kidney Int. 50:635.
18. Petry, F., A. I. Berkel, and M. Loos. 1997. Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysis. Hum. Genet. 100:51.
19. Reid, B. M. R. 1989. Deficiency of thee first component of human complement. Immunodefic. Rev. 1:247.
20. Morgan, B. P., and M. J. Walport. 1991. Complement deficiency and disease. Immunol. Today 12:301.
21. Endo, Y., M. Takahashi, M. Nakao, H. Saiga, H. Sekine, M. Matsushita, M. Nonaka, and T. Fujita. 1998. Two lineages of mannose binding lectin-associated serine protease (MASP) in vertebrate. J. Immunol. 161:4924.
22. Risdall, R. J., R. W. McKenna, M. E. Nesbit, W. Krivit, H. H. Balfour Jr, R. L. Simmons, and R. D. Brunning. 1979. Virus-associated hemophagocytic syndrome: a benign histiocytic proliferation distinct from malignant histiocytosis. Cancer 44:993.
23. Henter, J.-I., G. Elinder, A Ost, and FHL Study Group of the Histiocytes Society. 1991. Diagnostic guidelines for hemophagocytic lymphohistiocytosis. Semin. Oncol. 18:29.
24. Weeke, B. 1973. Rocket immunoelectrophoresis. Scand. J. Immunol. 2 (Suppl. 1):37.
25. Sambrook, J., E. F. Fritsch, and T. Maniatis. 1989. Analysis of genomic DNA by Southern hybridization. In Molecular Cloning: A Laboratory Manual, 2nd Ed. Cold Spring Harbor Laboratory Press. Plainview, NY, p. 9.31.
26. Gross-Bellard, M., P. Oudet, and P. Chambon. 1972. Isolation of high-molecular weight DNA from mammalian cells. Eur. J. Biochem. 36:32.
27. Sugano, K., A. Kyogoku, N. Fukayama, H. Ohkura, Y. Shimosato, T. Sekiya, and K. Hayashi. 1993. Methods in laboratory investigation: rapid and simple detection of c-Ki-ras2 gene codon 12 mutations by nonradioisotopic single-strand conformation polymorphism analysis. Lab. Invest. 68:361.
28. Sanger, F., S. Nicklen, and A. R. Coulson. 1977. DNA sequencing with chain-terminating inhibitors. Proc. Natl. Acad. Sci. USA 74:5463.
29. Etsumi, N., S. Ikushima, S. Todo, and S. Imashuku. 1987. Hyperferritinemia in malignant histiocytosis and virus-associated hemophagocytic syndrome. N. Engl. J. Med. 316:346.
30. Komp, D. M., J. McNamara, and P. Buckley. 1989. Elevated soluble interleukin-2 receptor in childhood hemophagocytic histiocytic syndromes. Blond 73: 2128.
31. Ishii, E., S. Ohga, T, Aoki, S. Yamada, M. Sako, H. Tasaka, A. Kuwano, M. Sasaki, Y. Tsunematsu, and K. Ueda. 1991 Prognosis of children with virus-associated hemophagocytic syndrome and malignant histiocytosis: correlation with levels of serum interleukin-1 and tumor necrosis factor. Acta Haematol. 85:93.
32. Botto, M., C. Dell'Agnola, A. E. Bygrave, E. M. Thompson, H. T. Cook, F. Petry, M. Loos, P. P. Pandolfi, and M. J. Walport. 1998 Homologous C1q deficiency causes glomerulonephritis associated with multiple apoptotic bodies. Nat. Genet. 19:56.