Determining the one, two, three, or four long and short loci of human complement C4 in a major histocompatibility complex haplotype encoding C4A or C4B proteins

American Journal of Human Genetics

Volumn 71, Issue 4, 2002, Pages 810-822

  Chung, Erwin K ^a   Van Yang, ^b   Rupert, Kristi L ^c   Jones, Karla N ^d   Rennebohm, Robert M ^a   Blanchong, Carol A ^a   Yung, C Yu ^a  

^a THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b and Medical Genetics ^*  (United States)

^c Pediatrics   (United States)

^d OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C4A; COMPLEMENT COMPONENT C4B;

ALLELE; ARTICLE; GENE DOSAGE; GENETICS; GENOTYPE; HUMAN; MAJOR HISTOCOMPATIBILITY COMPLEX; MOLECULAR GENETICS; PHENOTYPE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ALLELES; COMPLEMENT C4A; COMPLEMENT C4B; GENE DOSAGE; GENOTYPE; HUMANS; MAJOR HISTOCOMPATIBILITY COMPLEX; MOLECULAR SEQUENCE DATA; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0036782903     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/342778     Document Type: Article

References (44)

1. Atkinson JP, Schneider PM (1999) Genetic susceptibility and class III complement genes. In: Lahita RG (ed) Systemic lupus erythematosus. Academic Press, San Diego, pp 91-104
2. Awdeh ZL, Alper CA (1980) Inherited structural polymorphism of the fourth component of human complement. Proc Natl Acad Sei USA 77:3576-3580
3. Awdeh ZL, Raum D, Alper CA (1979) Genetic polymorphism of human complement C4 and detection of heterozygotes. Nature 282:205-208
4. Baldwin WM III, Samaniego-Picota M, Kasper EK, Clark AM, Czader M, Rohde C, Zachary AA, Sanfilippo F, Hruban RH (1999) Complement deposition in early cardiac transplant biopsies is associated with ischemic injury and subsequent rejection episodes. Transplantation 68:894-900
5. Bishof NA, Welch TR, Beischel LS (1990) C4B deficiency: a risk factor for bacteremia with encapsulated organisms. J Infect Dis 162:248-250
6. Blanchong CA, Chung EK, Rupert KL, Yang Y, Yang Z, Zhou B, Yu CY (2001) Genetic, structural and functional diversities of human complement components C4A and C4B and their mouse homologs, Sip and C4. Int Immunopharmacol 1:365-392
7. Blanchong CA, Zhou B, Rupert KL, Chung EK, Jones KN, Sotos JF, Rennebohm RM, Yu CY (2000) Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in Caucasians: the load of RCCX genetic diversity on MHC-associated disease. J Exp Med 191:2183-2196
8. Carroll MC, Palsdottir A, Belt KT, Porter RR (1985) Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region. EMBO J 4:2547-2552
9. Chung EK, Yang Y, Rennebohm RM, Lokki ML, Higgins GC, Jones KN, Zhou B, Blanchong CA, Yu CY (2002) Genetic sophistication of human complement components C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complex. Am J Hum Genet 71:823-837 (in this issue)
10. Collier S, Sinnott PJ, Dyer PA, Price DA, Harris R, Strachan T (1989) Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes. EMBO J 8:1393-1402
11. Colten HR, Gamier G (1998) Regulation of complement protein gene expression. In: Volanakis JE, Frank MM (eds) The human complement system in health and disease. Marcel Dekker, New York, pp 217-240
12. Dangel AW, Mendoza AR, Baker BJ, Daniel CM, Carroll MC, Wu L-C, Yu CY (1994) The dichotomous size variation of human complement C4 gene is mediated by a novel family of endogenous retroviruses which also establishes speciesspecific genomic patterns among Old World primates. Immunogenetics 40:425-436
13. Daniels CA, Borsos T, Rapp HJ, Snyderman R, Notkins AL (1969) Neutralization of sensitized virus by the fourth component of complement. Science 165:508-509
14. Dodds AW, Ren X-D, Willis AC, Law SKA (1996) The reaction mechanism of the internal thioester in the human complement component C4. Nature 379:177-179
15. Dunham I, Sargent CA, Dawkins RL, Campbell RD (1989) Direct observation of the gene organization of the complement C4 and 21-hydroxylase loci by pulsed field gel electrophoresis. J Exp Med 169:1803-1816
16. Feucht HE, Schneeberger H, Hillebrand G, Burkhardt K, Weis M, Riethmuller G, Land W, Albert E (1993) Capillary deposition of C4d complement fragment and early renal graft loss. Kidney Int 43:1333-1338
17. Gitelman SE, Bristow J, Miller WL (1992) Mechanism and consequences of the duplication of the human C4/P450c21/ene X locus. Mol Cell Biol 12:2124-2134
18. Higuchi R, Fockler C, Dollinger G, Watson R (1993) Kinetic PCR analysis: real-time monitoring of DNA amplification reactions. Biotechnology (NY) 11:1026-1030
19. Jaatinen T, Ruuskanen O, Truedsson L, Lokki M-L (1999) Homozygous deletion of. the CYP21A-TNXA-RP2-C4B gene region conferring C4B deficiency associated with recurrent respiratory infections. Hum Immunol 60:707-714
20. Jack DL, Klein NJ, Turner MW (2001) Mannose-binding lec-tin: targeting the microbial world for complement attack and opsonophagocytosis. Immunol Rev 180:86-99
21. Kohl J (2001) Anaphylatoxins and infectious and non-infectious inflammatory diseases. Mol Immunol 38:175-187
22. Mauff G, Luther B, Schneider PM, Rittner C, StrandmannBellinghausen B, Dawkins R, Moulds JM (1998) Reference typing report for complement component C4. Exp Clin Immunogenet 15:249-260
23. MHC Sequencing Consortium (1999) Complete sequence and gene map of a human major histocompatibility complex. Nature 401:921-923
24. Olaisen B, Teisberg P, Jonassen R (1980) The C4 system: quantitative studies of different genotypes. Immunobiology 158: 82-85
25. O'Neill GJ, Yang SY, DuPont B (1978) Two HLA-linked loci controlling the fourth component of human complement. Proc Nad Acad Sei USA 75:5165-5169
26. Pfeifer PH, Brems JJ, Brunson M, Hugli TE (2000) Plasma C3a and C4a levels in liver transplant recipients: a longitudinal study. Immunopharmacology 46:163-174
27. Pinckard RN, Olson MS, Giclas PC, Terry R, Boyer JT, O'Rourke RA (1975) Consumption of classical complement components by heart subcellular membranes in vitro and in patients after acute myocardial infarction. J Clin Invest 56:740-750
28. Porter RR (1983) Complement polymorphism, the major histocompatibility complex and associated diseases: a speculation. Mol Biol Med 1:161-168
29. Schneider PM, Carroll MC, Alper CA, Rittner C, Whitehead AS, Yunis EJ, Colten HR (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 78:650-657
30. Schneider PM, Witzel-Schlomp K, Rittner C, Zhang L (2001) The endogenous retroviral insertion in the human complement C4 gene modulates the expression of homologous genes by antisense inhibition. Immunogenetics 53:1-9
31. Shen L, Wu L-C, Sanlioglu S, Chen R, Mendoza AR, Dangel AW, Carroll MC, Zipf WB, Yu CY (1994) Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class HI region: molecular cloning, exon intron structure, composite retroposon, and breakpoint of gene duplication. J Biol Chem 269:8466-8476
32. Sim E, Cross S (1986) Phenotyping of human complement component C4, a class III HLA antigen. Biochem J 239:763-767
33. Tsokos GC, Kammer GM (2000) Molecular aberrations in human systemic lupus erythematosus. Mol Med Today 6: 418-424
34. Uejima H, Lee MP, Cui H, Feinberg AP (2000) Hot-stop PCR: a simple and general assay for linear quantitation of allele ratios. Nat Genet 25:375-376
35. Uko G, Christiansen FT, Dawkins RL, McCann VJ (1986) Reference ranges for serum C4 concentrations in subjects with and without C4 null alleles. J Clin Pathol 39:573-576
36. Weg-Remers S, Brenden M, Schwarz E, Witzel K, Schneider PM, Guerra LK, Rehfeldt IR, Lima MT, Hartmann D, PetzlErler ML, de Messias IJT, Mauff G (1997) Major histocompatibility complex (MHC) class III genetics in two Amer-indian tribes from southern Brazil: the Kaingang and the Guarani. Hum Genet 100:548-556
37. Welch TR, Beischel L, Berry A, Forristal J, West CD (1985) The effect of null C4 alleles on complement function. Clin Immunol Immunopathol 34:316-325
38. Wessels MR, Butko P, Ma M, Warren HB, Lage AL, Carroll MC (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 Nad Acad Sei USA 92:11490-11494
39. White PC, Speiser PW (2000) Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 21:245-291
40. Wild G, Watkins J, Ward AM, Hughes P, Hume A, Rowell NR (1990) C4a anaphylatoxin levels as an indicator of disease activity in systemic lupus erythematosus. Clin Exp Immunol 80:167-170
41. Yang Z, Mendoza AR, Welch TR, Zipf WB, Yu CY (1999) Modular variations of HLA class HI genes for serine/threonine kinase RP, complement C4, steroid 21-hydroxylase CYP21 and tenascin TNX (RCCX): a mechanism for gene deletions and disease associations. J Biol Chem 274:12147-12156
42. Yu CY, Blanchong CA, Chung EK, Rupert KL, Yang Y, Yang Z, Zhou B, Moulds JM (2002) Molecular genetic analyses of human complement components C4A and C4B. In: Rose NR, Hamilton RG, Detrick B (eds) Manuals of clinical laboratory immunology, 6th ed. ASM Press, Washington, DC, pp 117-131
43. Yu CY, Yang Z, Blanchong CA, Miller W (2000) The human and mouse MHC class III region: a parade of the centromeric segment with 21 genes. Immunol Today 21:320-328
44. Zhang WJ, Degli-Esposti MA, Cobain TJ, Cameron PU, Christiansen FT, Davvkins RL (1990) Differences in gene copy number carried by different MHC ancestral haplotypes. Quantitation after physical separation of haplotypes by pulsed field gel electrophoresis. J Exp Med 171:2101-2114