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Human complement component C8. Molecular basis of the beta-chain polymorphism

G Dewald1, S Hemmer, M M Nöthen

  • 1Institute of Human Genetics, University of Bonn, Germany.

FEBS Letters
|March 7, 1994
PubMed
Summary
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Human complement component C8 beta-chain has two common genetic variants (allotypes). A newly identified gene polymorphism at codon 63 directly explains the charge difference between these C8B allotypes.

Area of Science:

  • Immunogenetics
  • Complement System Biology
  • Protein Polymorphism

Background:

  • The beta-chain of human complement component C8 (C8B) displays genetic polymorphism.
  • Two major allotypes, C8B B (basic) and C8B A (acidic), are identifiable via isoelectric focusing.

Purpose of the Study:

  • To identify the specific genetic variation underlying the C8B allotypes.
  • To correlate a sequence polymorphism with the observed charge differences in the C8 beta-chain.

Main Methods:

  • Sequence analysis of the C8B gene.
  • Correlation of genetic findings with protein charge variants.

Main Results:

  • A sequence polymorphism was identified in the C8B gene at codon 63 (AGA to GGA).

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  • This DNA change results in an amino acid substitution from Arginine (Arg) to Glycine (Gly).
  • The Arg residue at position 63 characterizes the C8B B allotype, while the Gly residue characterizes the C8B A allotype.

    • Conclusions:

    • The identified codon 63 polymorphism is responsible for the Arg/Gly substitution.
    • This amino acid difference consistently explains the charge variation observed between the C8B B and C8B A allotypes.