Chido and Rodgers blood groups are distinct antigenic components of human complement C4

Gj, O'Neill; Sy, Yang; Tegoli, J.; Berger, Rachel P.; Dupont, Bo

doi:10.1038/273668a0

Cited by 219 publications

(91 citation statements)

References 12 publications

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“…Oligonucleotides of human C4 and RCCX constituents were designed based on published DNA sequences (51)(52)(53) 1,3,4,5,6,8,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,31,32,33,34,35,37,38,39,40, and 41. The primers were designed based on the genomic DNA sequence of C4A3a (51).…”

Section: Synthetic Dna Primersmentioning

confidence: 99%

“…The isotypic residues of C4A and C4B locate closely to another polymorphic region at positions 1188 and 1191, which determine the Rodgers (Rg) and Chido (Ch) blood group Ags. The close association of C4A to Rg Ags and C4B to Ch Ags helped the mapping of the C4 genes to the MHC (14). The number of long or short C4A and C4B genes present in an individual plays a role in determining the basal level of C4 proteins in the peripheral blood plasma.…”

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confidence: 99%

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The Molecular Basis of Complete Complement C4A and C4B Deficiencies in a Systemic Lupus Erythematosus Patient with HomozygousC4AandC4BMutant Genes

Rupert

Moulds

Yang

et al. 2002

The Journal of Immunology

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The disease course of a complete C4-deficient patient in the U.S. was followed for 18 years. The patient experienced multiple episodes of infection, and he was diagnosed with systemic lupus erythematosus at age 9 years. The disease progressed to WHO class III mild lupus nephritis and to fatal CNS vasculitis at age 23 years. Immunochemical experiments showed that the patient and his sibling had complete absence of C4A and C4B proteins and were negative for the Rodgers and Chido blood group Ags. Segregation and definitive RFLP analyses demonstrated that the patient and his sibling inherited two identical haplotypes, HLA A2 B12 DR6, each of which carries a defective long C4A gene and a defective short C4B gene. PCR and DNA sequencing revealed that the mutant C4A contained a 2-bp insertion in exon 29 at the sequence for codon 1213. The identical mutation was absent in the mutant C4B. The C4B mutant gene was selectively amplified by long range PCR, and its 41 exons were completely sequenced. The C4B mutant had a novel single C nucleotide deletion at the sequence for codon 522 in exon 13, leading to frame-shift mutation and premature termination. Thus, a multiplex PCR is designed by which known mutations in C4A and C4B can be elucidated conveniently. Among the 28 individuals reported with complete C4 deficiency, 75–96% of the subjects (dependent on the inclusion criteria) were afflicted with autoimmune or immune complex disorders. Hence, complete C4 deficiency is one of the most penetrant genetic risk factors for human systemic lupus erythematosus.

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Section: Synthetic Dna Primersmentioning

confidence: 99%

mentioning

confidence: 99%

The Molecular Basis of Complete Complement C4A and C4B Deficiencies in a Systemic Lupus Erythematosus Patient with HomozygousC4AandC4BMutant Genes

Rupert

Moulds

Yang

et al. 2002

The Journal of Immunology

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“…On the other hand, O'Neill et al (1978aO'Neill et al ( , 1978b described the electrophoretic polymorphisrn of C4 in EDTA plasma and presented a new hypothesis which sug-gested that two different genetic loci control the electrophoretic patterns of C4. These authors assume that one locus controls the presence (F)or absence (f0) of the anodal bands and the other locus controls the presence (S) or absence (s ~ of the cathodal bands, and both loci are closely linked to the HLA-B locus.…”

Section: Introductionmentioning

confidence: 99%

Haplotype analysis of the linkage group HLA-A∶HLA-B∶C4 in Japanese: Evidence for the C4 locus being between the HLA-A and HLA-B loci

et al. 1980

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Summary176 HLA-A:HLA-B:C4 haplotypes of the Japanese population as deduced by family analysis are described. Four combinations between the HLA and C4 alleles, namely, B!2-C4 s, Bw54-C4 r, Bw52-C4 F and Aw33-C4 s, are shown to be in significantly positive linkage disequilibrium, This finding suggests close proximity between the HLA-B and C4 loci. In a family with HLA-A :HLA-B recombinant, the evidence is presented indicating that the C4 allele travels with the HLA-A allele. Therefore, it is considered that the C4 locus is probably situated between the HLA-A and HLA-B loci.

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“…Recently, C4 has been shown to be a blood-group antigen [8], an interesting feature with regard to the linkage of the genes of this component to the genes of the major histocompatibility complex which codes for several membrane proteins.…”

mentioning

confidence: 99%

Isolation of Component C4 of Human Complement and Its Polypeptide Chains

Lundwall¹,

Malmheden²,

Stålenheim³

et al. 1981

European Journal of Biochemistry

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Component C4 of human complement was purified from fresh frozen plasma with a yield of 25 x, using an initial batch separation with quaternary diethyl-(2-hydroxypropyl)aminoethyl-Sephadex followed by column chromatography on DEAE-cellulose and gel filtration in Sephadex G-200.The final product was homogenous according to polyacrylamide gel electrophoresis and immunochemical methods. Low-speed sedimentation-equilibrium analyses revealed a molecular weight of 189000, using a value of 0.736 ml/g for the partial specific volume.The polypeptide chains of reduced and alkylated C4 were separated on DEAE-Sepharose in the presence of 8 M urea. Gel filtration in Sepharose4B in 6 M guanidine hydrochloride revealed molecular weights of 88000, 72000 and 32000 for the z, / 3 and y chain respectively.The amino acid compositions of component C4 and its constitutive chains were also determined.

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Chido and Rodgers blood groups are distinct antigenic components of human complement C4

Cited by 219 publications

References 12 publications

The Molecular Basis of Complete Complement C4A and C4B Deficiencies in a Systemic Lupus Erythematosus Patient with HomozygousC4AandC4BMutant Genes

The Molecular Basis of Complete Complement C4A and C4B Deficiencies in a Systemic Lupus Erythematosus Patient with HomozygousC4AandC4BMutant Genes

Haplotype analysis of the linkage group HLA-A∶HLA-B∶C4 in Japanese: Evidence for the C4 locus being between the HLA-A and HLA-B loci

Isolation of Component C4 of Human Complement and Its Polypeptide Chains

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