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Related Experiment Videos

The complement components of the major histocompatibility locus.

R R Porter

    CRC Critical Reviews in Biochemistry
    |January 1, 1984
    PubMed
    Summary
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    Genetic mapping of complement component genes reveals their unique structures and functions. These studies link gene locations to inherited diseases, advancing our understanding of the human genome.

    Area of Science:

    • Immunogenetics
    • Molecular Genetics
    • Biochemistry

    Background:

    • Polymorphism and inherited deficiencies of complement components aid in mapping their structural genes.
    • Human complement genes C2, C4, and factor B are located on chromosome 6, linked to HLA loci.
    • Murine C4 gene is mapped to chromosome 17, between H2-I and H2-D.

    Purpose of the Study:

    • To map the structural genes of complement components.
    • To elucidate the unique structural and functional characteristics of complement proteins.
    • To investigate the relationship between complement gene defects and inherited diseases.

    Main Methods:

    • Analysis of complement component polymorphism (antigenic specificity, electrophoretic mobility).
    • Gene mapping studies utilizing human and murine genetic markers.

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  • Structural and molecular genetic investigations of complement proteins.

    • Main Results:

    • Established gene locations for C2, C4, and factor B in humans and C4 in mice.
    • Identified C2 and factor B as novel serine proteases crucial for complement pathways.
    • Revealed an intrachain thioester bond in C4 essential for hemolytic activity.

    Conclusions:

    • Complement gene mapping provides insights into their structural organization and evolutionary relationships.
    • Understanding complement gene structure and function is vital for clarifying associations with inherited human diseases.
    • Molecular genetic studies are key to deciphering the role of complement system defects in disease pathogenesis.