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Polymorphism of human complement component C4.

K T Belt, C Y Yu, M C Carroll

    Immunogenetics
    |January 1, 1985
    PubMed
    Summary
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    Human complement component C4 (C4) exhibits low genetic polymorphism, with allelic forms differing in less than 1% of amino acid positions. This suggests recent gene duplication or selection due to C4

    Area of Science:

    • Immunogenetics
    • Molecular Biology
    • Human Genetics

    Background:

    • Human complement component C4 (C4) plays a crucial role in the immune system.
    • Understanding C4 polymorphism is vital for immunogenetic studies.

    Purpose of the Study:

    • To assess the extent of polymorphism in human complement component C4.
    • To compare amino acid sequences derived from cDNA and genomic DNA.

    Main Methods:

    • Analysis of derived amino acid sequences from cDNA and genomic DNA.
    • Comparison of sequences from three individuals, yielding two C4A and two C4B alleles.

    Main Results:

    • Only 15 out of 1722 amino acid residues differed among four C4 alleles.
    • Twelve differences were localized to a 230-residue region, including a 3-residue deletion in one allele.

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  • Three nucleotide differences were observed in four introns.
  • Conclusions:

    • Human C4 exhibits unusually low polymorphism, with allelic variants differing in less than 1% of amino acid positions.
    • This pattern may result from recent gene duplication or functional constraints related to C4's role in the complement cascade.
    • Conservation of surface structure is likely essential for C4's interaction with other complement proteins.