메뉴 건너뛰기




Volumn 93, Issue 2, 1998, Pages 184-191

Molecular heterogeneity in deficiency of complement protein C2 type I

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DNA FLANKING REGION; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ANALYSIS; HAPLOTYPE; MAJOR HISTOCOMPATIBILITY COMPLEX; MISSENSE MUTATION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN ANALYSIS; PROTEIN DEFICIENCY; PROTEIN SYNTHESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0031934956     PISSN: 00192805     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2567.1998.00392.x     Document Type: Article
Times cited : (16)

References (44)
  • 2
    • 0025874771 scopus 로고
    • Complement deficiency and disease
    • MORGAN B.P. & WALPORT M.J. (1991) Complement deficiency and disease. Immunol Today 12, 301.
    • (1991) Immunol Today , vol.12 , pp. 301
    • Morgan, B.P.1    Walport, M.J.2
  • 3
    • 0025913102 scopus 로고
    • Infectious diseases associated with complement deficiencies
    • FIGUEROA J.E. & DENSEN P. (1991) Infectious diseases associated with complement deficiencies. Clin Microbiol Rev 4, 359.
    • (1991) Clin Microbiol Rev , vol.4 , pp. 359
    • Figueroa, J.E.1    Densen, P.2
  • 4
    • 0029558338 scopus 로고
    • Studies of group B streptococcal infection in mice deficient in complement component C3 or C4 demonstrate an essential role for complement in both innate and acquired immunity
    • WESSELS M.R., BUTKO P., MA M., WARREN H.B., LAGE A.L. & CARROLL M.C. (1995) Studies of group B streptococcal infection in mice deficient in complement component C3 or C4 demonstrate an essential role for complement in both innate and acquired immunity. Proc Natl Acad Sci USA 92, 11 490.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 11490
    • Wessels, M.R.1    Butko, P.2    Ma, M.3    Warren, H.B.4    Lage, A.L.5    Carroll, M.C.6
  • 5
    • 0029926153 scopus 로고    scopus 로고
    • Markedly impaired humoral immune response in mice deficient in complement receptors 1 and 2
    • MOLINA H., HOLERS V.M., LI B. et al. (1996) Markedly impaired humoral immune response in mice deficient in complement receptors 1 and 2. Proc Natl Acad Sci USA 93, 3357.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 3357
    • Molina, H.1    Holers, V.M.2    Li, B.3
  • 6
    • 8944232100 scopus 로고    scopus 로고
    • Regulation of the B cell response to T-dependent antigens by classical pathway complement
    • FISCHER M.B., MA M., GOERG S. et al. (1996) Regulation of the B cell response to T-dependent antigens by classical pathway complement. J Immunol 157, 549.
    • (1996) J Immunol , vol.157 , pp. 549
    • Fischer, M.B.1    Ma, M.2    Goerg, S.3
  • 7
    • 12644280801 scopus 로고    scopus 로고
    • Abrogation of the alternative complement pathway by targeted deletion of murine factor B
    • MATSUMOTO M., FUKUDA W., CIRCOLO A. et al. (1997) Abrogation of the alternative complement pathway by targeted deletion of murine factor B. Proc Natl Acad Sci USA 94, 8720.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 8720
    • Matsumoto, M.1    Fukuda, W.2    Circolo, A.3
  • 8
    • 0025131406 scopus 로고
    • Murine complement C2 and factor B genomic and cDNA cloning reveals different mechanisms for multiple transcripts of C2 and B
    • ISHIKAWA N., NONAKA M., WETSEL R.A. & COLTEN H.R. (1990) Murine complement C2 and factor B genomic and cDNA cloning reveals different mechanisms for multiple transcripts of C2 and B. J Biol Chem 265, 19 040.
    • (1990) J Biol Chem , vol.265 , pp. 19040
    • Ishikawa, N.1    Nonaka, M.2    Wetsel, R.A.3    Colten, H.R.4
  • 9
    • 6844251195 scopus 로고
    • Structure of the gene for human complement component C2
    • ISHII Y., ZHU Z.B., MACON K.J. & VOLANAKIS J.E. (1991) Structure of the gene for human complement component C2 (abstract). Compl Inflamm 8, 167.
    • (1991) Compl Inflamm , vol.8 , pp. 167
    • Ishii, Y.1    Zhu, Z.B.2    Macon, K.J.3    Volanakis, J.E.4
  • 10
    • 0021154191 scopus 로고
    • A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B
    • CARROLL M.C., CAMPBELL R.D., BENTLEY D.R. & PORTER R.R. (1984) A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B. Nature 307, 237.
    • (1984) Nature , vol.307 , pp. 237
    • Carroll, M.C.1    Campbell, R.D.2    Bentley, D.R.3    Porter, R.R.4
  • 11
    • 0016245322 scopus 로고
    • Evidence for linkage between HLA histocompatibility genes and those involved in the synthesis of the second component of complement
    • FU S.M., KUNKEL H.G., BRUSMAN H.P., ALLEN F.H. & FOTINO M. (1974) Evidence for linkage between HLA histocompatibility genes and those involved in the synthesis of the second component of complement. J Exp Med 140, 1108.
    • (1974) J Exp Med , vol.140 , pp. 1108
    • Fu, S.M.1    Kunkel, H.G.2    Brusman, H.P.3    Allen, F.H.4    Fotino, M.5
  • 13
    • 0017177146 scopus 로고
    • Inherited deficiency of the second component of complement. Rheumatic disease associations
    • GLASS D., RAUIM D., GIBSON D., STILLMAN J.S. & SCHUR P. (1976) Inherited deficiency of the second component of complement. Rheumatic disease associations. J Clin Invest 58, 853.
    • (1976) J Clin Invest , vol.58 , pp. 853
    • Glass, D.1    Rauim, D.2    Gibson, D.3    Stillman, J.S.4    Schur, P.5
  • 14
    • 0027382379 scopus 로고
    • Characterization of type I complement C2 deficiency MHC haplotypes. Strong conservation of the complotype HLA-B-region and absence of disease association due to linked class II genes
    • TRUEDSSON L., ALPER C.A., AWDEH Z.L., JOHANSEN P., SJOHOLM A.G. & STURFELT G. (1993) Characterization of type I complement C2 deficiency MHC haplotypes. Strong conservation of the complotype HLA-B-region and absence of disease association due to linked class II genes. J Immunol 151, 5856.
    • (1993) J Immunol , vol.151 , pp. 5856
    • Truedsson, L.1    Alper, C.A.2    Awdeh, Z.L.3    Johansen, P.4    Sjoholm, A.G.5    Sturfelt, G.6
  • 16
    • 0026786439 scopus 로고
    • Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing
    • JOHNSON C.A., DENSEN P., HURFORD R.K., COLTEN H.R. &. WETSEL R.A. (1992) Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing. J Biol Chem 267, 9347.
    • (1992) J Biol Chem , vol.267 , pp. 9347
    • Johnson, C.A.1    Densen, P.2    Hurford, R.K.3    Colten, H.R.4    Wetsel, R.A.5
  • 18
    • 0013639779 scopus 로고
    • Tissue culture methods in human cytogenetics
    • (eds. D. E. Rooney & B. H. Zebulkowski). JRL Press, Oxford
    • ROONEY D.E. & ZEBULKOWSKI B.H. (1986) Tissue culture methods in human cytogenetics. In: Human Cytogenetics: A Practical Approach (eds. D. E. Rooney & B. H. Zebulkowski). pp. 1-37. JRL Press, Oxford.
    • (1986) Human Cytogenetics: A Practical Approach , pp. 1-37
    • Rooney, D.E.1    Zebulkowski, B.H.2
  • 19
    • 0027964759 scopus 로고
    • Regulation of synthesis of complement protein C4 in human fibroblasts: Cell- And gene-specific effects of cytokines and lipopolysaccharide
    • KULICS J., CIRCOLO A., STRUNK R.C. & COLTEN H.R. (1994) Regulation of synthesis of complement protein C4 in human fibroblasts: cell- and gene-specific effects of cytokines and lipopolysaccharide. Immunology 82, 509.
    • (1994) Immunology , vol.82 , pp. 509
    • Kulics, J.1    Circolo, A.2    Strunk, R.C.3    Colten, H.R.4
  • 20
    • 0019992119 scopus 로고
    • Complement biosynthesis in the human hepatoma-derived cell line HepG2
    • MORRIS K.M., ADEN D.P., KNOWLES B.B. & COLTEN H.R. (1982) Complement biosynthesis in the human hepatoma-derived cell line HepG2. J Clin Invest 70, 906.
    • (1982) J Clin Invest , vol.70 , pp. 906
    • Morris, K.M.1    Aden, D.P.2    Knowles, B.B.3    Colten, H.R.4
  • 21
    • 0014949207 scopus 로고
    • Cleavage of the structural proteins during assembly of the head of bacteriophage T4
    • LAEMMLI U.K. (1970) Cleavage of the structural proteins during assembly of the head of bacteriophage T4. Nature (London) 227, 680.
    • (1970) Nature (London) , vol.227 , pp. 680
    • Laemmli, U.K.1
  • 22
    • 0018639079 scopus 로고
    • Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
    • CHIRGWIN J.M., PRZBYLA A.E., MACDONALD R.J. & RUTTER W.J. (1979) Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18, 5294.
    • (1979) Biochemistry , vol.18 , pp. 5294
    • Chirgwin, J.M.1    Przbyla, A.E.2    Macdonald, R.J.3    Rutter, W.J.4
  • 23
    • 0020457104 scopus 로고
    • Isolation of cDNA clones for the human complement protein factor B, a class III MHC gene product
    • WOODS D.E., MARKHAM A.F., RICKER A.T., GOLDBERGER G. & COLTEN H.R. (1982) Isolation of cDNA clones for the human complement protein factor B, a class III MHC gene product. Proc Natl Acad Sci USA 79, 5661.
    • (1982) Proc Natl Acad Sci USA , vol.79 , pp. 5661
    • Woods, D.E.1    Markham, A.F.2    Ricker, A.T.3    Goldberger, G.4    Colten, H.R.5
  • 24
    • 0021149065 scopus 로고
    • Isolation of a complementary DNA clone for the human complement protein C2 and its use in the identification of a restriction fragment length polymorphism
    • WOODS D.E., EDGE M.D. & COLTEN H.R. (1984) Isolation of a complementary DNA clone for the human complement protein C2 and its use in the identification of a restriction fragment length polymorphism. J Clin Invest 74, 634.
    • (1984) J Clin Invest , vol.74 , pp. 634
    • Woods, D.E.1    Edge, M.D.2    Colten, H.R.3
  • 25
    • 0019320466 scopus 로고
    • Regulation of muscle differentiation: Cloning sequences from alpha-actin messenger ribonucleic acid
    • SCHWARTZ R.J., HASA J.A., ROTHBLUM K.N. & DUGAICZYK A. (1980) Regulation of muscle differentiation: cloning sequences from alpha-actin messenger ribonucleic acid. Biochemistry 19, 5883.
    • (1980) Biochemistry , vol.19 , pp. 5883
    • Schwartz, R.J.1    Hasa, J.A.2    Rothblum, K.N.3    Dugaiczyk, A.4
  • 26
    • 0024514446 scopus 로고
    • cDNA cloning and expression of human complement component C2
    • HORIUCHI T., MACON K.J., KIDD V.J. & VOLANAKIS J.E. (1989) cDNA cloning and expression of human complement component C2. J Immunol 142, 2105.
    • (1989) J Immunol , vol.142 , pp. 2105
    • Horiuchi, T.1    Macon, K.J.2    Kidd, V.J.3    Volanakis, J.E.4
  • 27
    • 0022467696 scopus 로고
    • Primary structure of human complement component C2. Homology to two unrelated protein families
    • BENTLEY D.R. (1986) Primary structure of human complement component C2. Homology to two unrelated protein families. Biochem J 239, 339.
    • (1986) Biochem J , vol.239 , pp. 339
    • Bentley, D.R.1
  • 28
    • 0024362210 scopus 로고
    • Regulation of human and murine complement. Comparison of 5′ structural and functional elements regulating human and murine complement factor B gene expression
    • NONAKA M., GITLIN J.D. & COLTEN H.R. (1989) Regulation of human and murine complement. Comparison of 5′ structural and functional elements regulating human and murine complement factor B gene expression. Molec Cellular Biochem 89, 1.
    • (1989) Molec Cellular Biochem , vol.89 , pp. 1
    • Nonaka, M.1    Gitlin, J.D.2    Colten, H.R.3
  • 29
    • 0023877411 scopus 로고
    • Emphysema associated with complete absence of α1-antitrypsin of a stop codon in an α1-antitrypsin-coding exon
    • SATOH K., NUKIWA T., BRANTLY M. et al. (1988) Emphysema associated with complete absence of α1-antitrypsin of a stop codon in an α1-antitrypsin-coding exon. Am J Hum Genet 42, 77.
    • (1988) Am J Hum Genet , vol.42 , pp. 77
    • Satoh, K.1    Nukiwa, T.2    Brantly, M.3
  • 30
    • 0028328924 scopus 로고
    • A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds
    • NOGEE M., GARNIER G., DIETZ H.C. et al. (1994) A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J Clin Invest 93, 1860.
    • (1994) J Clin Invest , vol.93 , pp. 1860
    • Nogee, M.1    Garnier, G.2    Dietz, H.C.3
  • 31
    • 0026322140 scopus 로고
    • Severe deficiency of cystic fibrosis transmembrane conductance regulatory messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis
    • HAMOSH A., TRAPNELL B.C., ZETTLEN P.L. et al. (1991) Severe deficiency of cystic fibrosis transmembrane conductance regulatory messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. J Clin Invest 88, 1880.
    • (1991) J Clin Invest , vol.88 , pp. 1880
    • Hamosh, A.1    Trapnell, B.C.2    Zettlen, P.L.3
  • 32
    • 0024121631 scopus 로고
    • Nonsense mutations in the human β-globin gene affect mRNA metabolism
    • BASERGA S. & BENZ E.J. JR (1988) Nonsense mutations in the human β-globin gene affect mRNA metabolism. Proc Natl Acad Sci USA 85, 2056.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 2056
    • Baserga, S.1    Benz Jr., E.J.2
  • 33
    • 0024349521 scopus 로고
    • Nonsense mutations in the dihydrofolate reductase gene affect RNA processing
    • URLAUB G., MITCHELL P.J., CIUDAD C.J. & CHASIN L.A. (1989) Nonsense mutations in the dihydrofolate reductase gene affect RNA processing. Mol Cell Biol 9, 2868.
    • (1989) Mol Cell Biol , vol.9 , pp. 2868
    • Urlaub, G.1    Mitchell, P.J.2    Ciudad, C.J.3    Chasin, L.A.4
  • 34
    • 0027388887 scopus 로고
    • Evidence to implicate translation by ribosomes in the mechanism by which nonsense codons reduce the nuclear level of human triosephosphate isomerase mRNA
    • BELGRADER P., CHENG J. & MAQUAT L.E. (1993) Evidence to implicate translation by ribosomes in the mechanism by which nonsense codons reduce the nuclear level of human triosephosphate isomerase mRNA. Proc Natl Acad Sci USA 90, 482.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 482
    • Belgrader, P.1    Cheng, J.2    Maquat, L.E.3
  • 35
    • 0027536976 scopus 로고
    • Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA
    • CHENG J. & MAQUAT L.E. (1993) Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA. Mol Cell Biol 13, 1892.
    • (1993) Mol Cell Biol , vol.13 , pp. 1892
    • Cheng, J.1    Maquat, L.E.2
  • 37
    • 0009461277 scopus 로고
    • Interference of nonsense mutations with eukaryotic messenger RNA stability
    • LOSSON R. & LACROUTE F. (1979) Interference of nonsense mutations with eukaryotic messenger RNA stability. Proc Natl Acad Sci USA 76, 5134.
    • (1979) Proc Natl Acad Sci USA , vol.76 , pp. 5134
    • Losson, R.1    Lacroute, F.2
  • 38
    • 0018116924 scopus 로고
    • Recurrent septicemia associated with congenital deficiency of C2 and partial deficiency of factor B and the alternative complement pathway
    • NEWMAN S.L., VOGLER L.B., FEIGIN R.D. & JOHNSTON R.B. JR (1978) Recurrent septicemia associated with congenital deficiency of C2 and partial deficiency of factor B and the alternative complement pathway. N Engl J Med 299, 290.
    • (1978) N Engl J Med , vol.299 , pp. 290
    • Newman, S.L.1    Vogler, L.B.2    Feigin, R.D.3    Johnston Jr., R.B.4
  • 39
    • 0025822535 scopus 로고
    • Defective activation of the alternative pathway of complement in patients with homozygous C2 deficiency: Studies in two unrelated families
    • SCHWERTZ R., ESSER E., SEGER R.A., RUBINSTEIN A., HAUPTMANN G. & WAHN V. (1991) Defective activation of the alternative pathway of complement in patients with homozygous C2 deficiency: studies in two unrelated families. Eur J Pediatr 150, 647.
    • (1991) Eur J Pediatr , vol.150 , pp. 647
    • Schwertz, R.1    Esser, E.2    Seger, R.A.3    Rubinstein, A.4    Hauptmann, G.5    Wahn, V.6
  • 40
    • 0030007069 scopus 로고    scopus 로고
    • Homozygous C2 deficiency: Association with defective alternative pathway function and immunoglobulin deficiency
    • SANAL O., YEL L., TEZCAN I., ERSOY F. & BERKEL A.I. (1996) Homozygous C2 deficiency: Association with defective alternative pathway function and immunoglobulin deficiency. Intl Arch All Immunol 110, 195.
    • (1996) Intl Arch All Immunol , vol.110 , pp. 195
    • Sanal, O.1    Yel, L.2    Tezcan, I.3    Ersoy, F.4    Berkel, A.I.5
  • 41
    • 0024520890 scopus 로고
    • Frequency of complement deficiencies in man, disease associations and chromosome assignment of complement genes and linkage groups
    • HAUPTMANN G. (1989) Frequency of complement deficiencies in man, disease associations and chromosome assignment of complement genes and linkage groups. Complement Inflamm 6, 74.
    • (1989) Complement Inflamm , vol.6 , pp. 74
    • Hauptmann, G.1
  • 42
    • 0020687287 scopus 로고
    • Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: Importance of null alleles of C4A and C4B in determining disease susceptibility
    • FIELDER A.H.L., WALPORT M.J., BATCHELOR H.R., RYNES R.I. & BLACK C.M. (1983) Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: importance of null alleles of C4A and C4B in determining disease susceptibility. Br Med J 286, 425.
    • (1983) Br Med J , vol.286 , pp. 425
    • Fielder, A.H.L.1    Walport, M.J.2    Batchelor, H.R.3    Rynes, R.I.4    Black, C.M.5
  • 43
    • 0022472150 scopus 로고
    • Relationship between C4 null genes, HLA-D region antigens, and genetic susceptibility to systemic lupus erythematosus in Caucasian and Black Americans
    • HOWARD P.F., HOCHBERG M.C., BIAS W.B., ARNETT F.C. JR & MCLEAN R.H. (1989) Relationship between C4 null genes, HLA-D region antigens, and genetic susceptibility to systemic lupus erythematosus in Caucasian and Black Americans. Am J Med 81, 187.
    • (1989) Am J Med , vol.81 , pp. 187
    • Howard, P.F.1    Hochberg, M.C.2    Bias, W.B.3    Arnett Jr., F.C.4    Mclean, R.H.5
  • 44
    • 0026050672 scopus 로고
    • DR3 and nonDR3 associated complement component C4A deficiency in systemic lupus erythematosus
    • KUMAR A., KUMAR P. & SCHUR P.H. (1991) DR3 and nonDR3 associated complement component C4A deficiency in systemic lupus erythematosus. Clin Immunol Immunopathol 60, 55.
    • (1991) Clin Immunol Immunopathol , vol.60 , pp. 55
    • Kumar, A.1    Kumar, P.2    Schur, P.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.