Deficiency of human complement protein C4 due to identical frameshift mutations in the C4A and C4B genes

Journal of Immunology

Volumn 162, Issue 6, 1999, Pages 3687-3693

  Lokki, Marja Liisa ^a,b   Circolo, Antonella ^a,c   Ahokas, Pirkko ^d   Rupert, Kristi L ^e   Yu, C Yung ^e   Colten, Harvey R ^a,f  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b FINNISH RED CROSS BLOOD SERVICE   (Finland)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^d Raahe Hospital   (Finland)

^e OHIO STATE UNIVERSITY   (United States)

^f NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C4;

ARTICLE; CONTROLLED STUDY; FIBROBLAST CULTURE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE INSERTION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; MAJOR HISTOCOMPATIBILITY COMPLEX; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADULT; CELLS, CULTURED; COMPLEMENT C4; COMPLEMENT C4A; COMPLEMENT C4B; FEMALE; FIBROBLASTS; FRAMESHIFT MUTATION; GENE EXPRESSION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; RESTRICTION MAPPING; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 0033559514     PISSN: 00221767     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (57)

1. Carroll, M. C., R. D. Campbell, D. R. Bentley, and R. R. Porter. 1984. A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B. Nature 307:237.
2. Hall, R. E., and H. R. Colten. 1977. Cell-free synthesis of the fourth component of guinea pig complement (C4): identification of a precursor of serum C4 (pro-C4). Proc. Natl. Acad. Sci. USA 74:1707.
3. Law, S. K. A., A. W. Dodds, and R. R. Porter. 1984. A comparison of the properties of two classes, C4A and C4B, of the human complement component C4. EMBO J. 3:1819.
4. Isenman, D., and J. R. Young. 1984. The molecular basis for the differences in immune hemolysis activity of the Chido and Rodgers isotypes of human complement component C4. J. Immunol. 132:3019.
5. Yu, C. Y., K. T. Belt, C. M. Giles, R. D. Campbell, and R. R. Porter. 1986. Structural basis of the polymorphism of human complement component C4A and C4B: gene size, reactivity and antigenicity. EMBO J. 5:2873.
6. Yu, C. Y., R. D. Campbell, and R. R. Porter. 1988. A structural model for the location of the Rodgers and the Chido antigenic determinants and their correlation with the human complement C4A/C4B isotypes. Immunogenetics 27:399.
7. Yu, C. Y. 1999. Molecular genetics of the human MHC complement gene cluster. Exp. Clin. Immunogenet. In press.
8. Dangel, A. W., A. R. Mendoza, B. J. Baker, C. M. Daniel, M. C. Carroll, L.-C. Wu, and C. Y. Yu. 1994. The dichotomous size variation of human complement C4 gene is mediated by a novel family of endogenous retroviruses which also establishes species-specific genomic patterns among Old World primates. Immunogenetics 40:425.
9. Dangel, A. W., B. J. Baker, A. R. Mendoza, and C. Y. Yu. 1995. Complement component C4 gene intron 9 as a phylogenetic marker for primates: long terminal repeats of the endogenous retrovirus ERV-K(C4) are a molecular clock of evolution. Immunogenetics 42:41.
10. Chu, X., C. Rittner, and P. M. Schneider. 1995. Length polymorphism of the human complement component C4 gene is due to an ancient retroviral integration. Exp. Clin. Immunogenet. 12:74.
11. Tassabehji, M., T. Strachan, M. Anderson, R. D. Campbell, S. Collier, and M. Lako. 1994. Identification of a novel family of human endogenous retroviruses and characterization of one family member, HERV-K(C4), located in the complement C4 gene cluster. Nucleic Acids Res. 22:5211.
12. Yang, Z., A. R. Mendoza, W. Zipf, and C. Y. Yu. 1998. Modular Variations of HLA class III genes RP, complement C4, steroid 21-hydroxylase CYP21 and tensacin TNX (RCCX): a mechanism for gene deletions and disease associations. GenBank accession no. AF86641.
13. Shen, L. M., L. C. Wu, S. Sanlioglu, R. Chen, A. R. Mendoza, A. Dangel, M. C. Carroll, W. Zipf, and C. Y. Yu. 1994. Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and C4B genes in the HLA class III region: molecular cloning, exon-intron structure, composite retroposon and breakpoint of gene duplication. J. Biol. Chem. 269: 8466.
14. Rupert, K. L., R. M. Rennebohm, and C. Y. Yu. 1999. An unequal crossover between the RCCX modules of the HLA leading to the presence of a CYP21B gene and a tenascin TNXB/TNXA-RP2 recombinant between C4A and C4B genes in a patient with juvenile rheumatoid arthritis. Exp. Clin. Immunogenet. In press.
15. Yu, C. Y., and R. D. Campbell. 1987. Definitive RFLPs to distinguish between the human complement C4A/C4B isotypes and the major Rodgers/Chido determinants: application to the study of C4 null alleles. Immunogenetics 25:384.
16. Schneider, P. M., M. C. Carroll, C. A. Alper, C. Rittner, A. S. Whitehead, E. J. Yunis, and H. R. Colten. 1986. Polymorphism of human complement C4 and steroid 21-hydroxylase genes: restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants. J. Clin. Invest. 78: 650.
17. Braun, L., P. M. Schneider, C. M. Giles, J. Bertrams, and C. Rittner. 1990. Null alleles of human complement C4: evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus. J. Exp. Med. 171:129.
18. Hauptmann, G., G. Tappeiner, and J. Schifferli. 1988. Inherited deficiency of the fourth component of human complement. Immunodefic. Rev. 1:3.
19. Hauptmann, G. 1989. Frequency of complement deficiencies in man, disease associations and chromosome assignment of complement genes and linkage groups: a summary of the data from the literature. Complement Inflamm. 6:74.
20. Liszewski, M. K., and J. P. Atkinson. 1991. The role of complement in autoimmunity. Immunol. Ser. 54:13.
21. Fan, Q., B. Uring-Lambert, B. Weill, C. Gautreau, C. J. Menkes, and M. Delpech. 1993. Complement component C4 deficiencies and gene alterations in patients with systemic lupus erythematosus. Eur. J. Immunogenet. 20:11.
22. Howard, P. F., M. C. Hochberg, W. B. Bias, F. C. J. Arnett, and R. H. McLean. 1986. 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.
23. Bishof, N. A., T. R. Welch, and L. S. Beischel. 1990. C4B deficiency: a risk factor for bacteremia with encapsulated organisms. J. Infect. Dis. 162:248.
24. Olsen, M. L., R. Goldstein, F. C. Arnett, M. Duvic, M. Pollack, and J. D. Reveille. 1989. C4A gene deletion and HLA associations on black Americans with systemic lupus erythematosus. Immunogenetics 30:27.
25. Terasaki, P. I., D. Bernoco, M. S. Park, G. Ozturk, and Y. Iwaki. 1978. Microdroplet testing for HLA-A, -B, -C, and -D antigens: the Phillip Levine Award Lecture. Am. J. Clin. Pathol. 69:103.
26. Duffy, B. F., P. DeTogni, D. Chaplin, and T. Mohanakumar. 1993. Simultaneous DRB1, DRB3 and DRB5 typing by chemiluminescent reverse dot blot. Hum. Immunol. 37S:140.
27. Marcus, D., and Alper, C. A. 1986. Manual of Clinical Laboratory Immunology. American Association for Microbiology, Washington, D.C.
28. Mancini, G., A. O. Carbonara, and J. F. Heremans. 1965. Immunochemical quantitation of antigens by single radial immunodiffusion. Immunochemistry 2:235.
29. Rooney, D. E., and B. H. Zebulkowski. 1986. Cytogenetics: A Practical Approach. IRL Press, Oxford.
30. Johnson, C. A., P. Densen, R. Wetsel, F. S. Cole, N. E. Goeken, and H. R. Colten. 1992. Molecular heterogeneity of C2 deficiency. N. Engl. J. Med. 326:874.
31. Kulics, J., A. Circolo, R. C. Strunk, and H. R. Colten. 1994. Regulation of synthesis of complement protein C4 in human fibroblasts: cell- and gene-specific effects of cytokines and lipopolysaccharide. Immunology 82:509.
32. Morris, K. M., D. P. Aden, B. B. Knowles, and H. R. Colten. 1982. Complement biosynthesis by the human hepatoma-derived cell line HepG2. J. Clin. Invest. 70:906.
33. Laemmli, U. K. 1970. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680.
34. Chirgwin, J. M., A. E. Przybyla, R. J. MacDonald, and W. J. Rutter. 1979. Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease. Biochemistry 18:5294.
35. Virca, G. D., W. Northemann, B. R. Shiels, G. Widera, and S. Broome. 1990. Simplified Northern blot hybridization using 5% sodium dodecyl sulfate. Biotechniques 8:370.
36. Johnson, C. A., P. Densen, R. K. Hurford, Jr., H. R. Colten, and R. A. Wetsel. 1992. Type 1 human complement C2 deficiency. J. Biol. Chem. 267:9347.
37. Miller, S. A., D. D. Dykes, and H. F. Polesky. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215.
38. Belt, K. T., M. C. Carroll, and R. R. Porter. 1984. The structural basis of the multiple forms of human complement component C4. Cell 36:907.
39. Schwartz, R. J., J. A. Haron, K. N. Rothblum, and A. Dugaiczyk. 1980. Regulation of muscle differentiation: cloning of sequences from α-actin messenger ribonucleic acid. Biochemistry 19:5883.
40. Yu, C. Y. 1991. The complete exon-intron structure of a human complement component C4A gene: DNA sequences, polymorphism, and linkage to the 21-hydroxylase genes. J. Immunol. 146:1057.
41. Barnes, W. M. 1992. The fidelity of Taq polymerase catalyzing PCR is improved by an N-terminal deletion. Gene 112:29.
42. Don, R. H., P. T. Cox, B. J. Wainwright, K. Baker, and J. S. Mattick. 1991. 'Touchdown' PCR to circumvent spurious priming during gene amplification. Nucleic Acids Res. 19:4008.
43. Barba, G., C. Rittner, and P. M. Schneider. 1993. Genetic basis of human complement C4A deficiency: detection of a point mutation leading to nonexpression. J. Clin. Invest. 91:1681.
44. Katz, Y., and R. C. Strunk. 1989. Synthesis and regulation of C1 inhibitor in human skin fibroblasts. J. Immunol. 142:2041.
45. Katz, Y., and R. C. Strunk. 1988. Synovial fibroblast-like cells synthesize seven proteins of the complement system. Arthritis Rheum. 31:1365.
46. Partanen, J., and R. D. Campbell. 1989. Restriction fragment analysis of nondeleted complement C4 null genes suggests point mutations in C4A null alleles, but gene conversions in C4B null alleles. Immunogenetics 30:520.
47. Fredrikson, G. N., L. Truedsson, A. G. Sjoholm, and M. Kjellman. 1991. DNA analysis in a MHC heterozygous patient with complete C4 deficiency: homozygosity for C4 gene deletion and C4 pseudogene. Exp. Clin. Immunogenet. 8:29.
48. Lin, C. Y., and J. L. Huang. 1993. Molecular study of a Chinese C3 deficient patient. Mol. Immunol. 30:29.
49. Higashi, Y., A. Tanae, H. Inoue, T. Hirosama, and Y. Fujii-Kuriyama. 1988. Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C2)] deficiency in humans: possible gene conversion products. Proc. Natl. Acad. Sci. USA 85:7486.
50. Botto, M., K. Y. Fong, A. K. So, A. Rudge, and M. J. Walport. 1990. Molecular basis of heteditary C3 deficiency. J. Clin. Invest. 86:1158.
51. Gayther, S. A., W. Warren, S. Mazoyer, P. A. Russell, P. A. Harrington, M. Chiano, S. Seal, R. Hamoudi, E. J. Vanrensburg, A. M. Dunning et al. 1995. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet. 11:428.
52. Cheng, J., and L. E. Maquat. 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.
53. Baserga, S. J., and E. J. J. Benz. 1988. Nonsense mutations in the human β-globin gene affect mRNA metabolism. Proc. Natl. Acad. Sci. USA 85:2056.
54. Satoh, K., T. Nukiwa, M. Brantly, R. I. J. Garver, M. Hofker, M. Courtney, and R. G. Crystal. 1988. Emphysema associated with complete absence of α1-antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an α1-antitrypsin-coding exon. Am. J. Hum. Genet. 42:77.
55. Nogee, L. M., G. Garnier, H. C. Dietz, E. Singer, A. M. Murphy, D. E. deMello, and H. R. Colten. 1994. A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J. Clin. Invest. 93: 1860.
56. Hamosh, A., B. C. Trapnell, P. L. Zeitlin, C. Montrose-Rafizadeh, B. J. Rosenstein, R. G. Crystal, and G. R. Cutting. 1991. Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. J. Clin. Invest. 88:1880.
57. Kadowaki, T., H. Kadowaki, M. M. Rechler, M. Serrano Rios, J. Roth, P. Gorden, and S. I. Taylor. 1990. Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. J. Clin. Invest. 86:254.