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  • Title: The molecular genetics of components of the complement system.
    Author: Campbell RD.
    Journal: Baillieres Clin Rheumatol; 1988 Dec; 2(3):547-75. PubMed ID: 3067864.
    Abstract:
    Rapid progress has been made recently on the elucidation of the structural components of the complement system by the application of recombinant DNA techniques. The derived amino acid sequences of most of the complement proteins are now available through cDNA cloning, and significant progress has been made in the discovery of the genetic organization of the corresponding genes. The linkage of some of the complement component genes has been established through the study of phenotypic genetics. Of particular interest has been the mapping of two clusters of genes which encode proteins involved in the activation of C3. C2, C4 and factor B, three of the structural components of the classical and alternative pathway C3 convertases, are encoded by genes which map to the MHC on human chromosome 6. The linkage of the genes with each other in a 100 kb segment of DNA has been established through the isolation of overlapping cosmid clones of genomic DNA, and PFGE has defined the molecular map position of these genes within the class III region of the MHC. The regulatory proteins factor H, C4BP, CR1 and DAF, which are involved in the control of C3 convertase activity, are encoded by closely-linked genes (termed the regulators of complement activation or RCA linkage group) that have been mapped to human chromosome 1. PFGE has defined the linkage of the CR1, C4BP and DAF genes, together with the CR2 gene in an 800 kb segment of DNA, and it is clear that this technique will eventually be applied to the molecular mapping of other complement genes in relation to their flanking loci. Polymorphism is a feature of many of the complement proteins, especially those encoded by genes in the MHC class III region. Of these, C4 is by far the most polymorphic, and differences in gene size and gene number, in addition to the functional and antigenic differences in the gene products, have been recognized. Null alleles at either of the C4 loci are rather common and may be important susceptibility factors in some HLA-associated diseases, particularly SLE. The molecular basis of complement deficiency states has begun to be elucidated. In many cases, the deficiency is not caused by a major gene deletion or rearrangement, and techniques which detect single point mutations in DNA (Cotton et al, 1988) will have to be applied to fully characterize the nature of the defect.
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