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Related Experiment Videos

Nucleotide sequence analyses of human complement 6 (C6) gene suggest balancing selection.

M Soejima1, H Tachida, M Tsuneoka

  • 1Department of Forensic Medicine and Human Genetics, Kurume University School of Medicine, Kurume 830-0011, Japan.

Annals of Human Genetics
|April 23, 2005
PubMed
Summary

The sixth complement component (C6) exhibits common C6A and C6B charge polymorphisms. Evidence suggests these C6 alleles are maintained by balancing selection in human populations.

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Area of Science:

  • Immunogenetics
  • Human Population Genetics

Background:

  • The sixth complement component (C6) possesses common charge polymorphisms, C6A and C6B, with consistent frequencies across major human populations.
  • A distinct C6B2 variant is observed in Japanese populations at approximately 6% frequency.

Purpose of the Study:

  • To investigate the evolutionary origins and population genetics of C6 charge polymorphisms.
  • To determine if common C6 alleles in humans are influenced by balancing selection.

Main Methods:

  • Sequence analysis of the C6 coding region in human and ape alleles.
  • Examination of sequence variation in a 3.86 kb region including exon 3.
  • Application of neutrality test statistics using sliding window methods.

Main Results:

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  • Sequence analysis revealed genetic differences between C6*B2 and C6*A, suggesting a recombination event.
  • Extensive linkage disequilibrium (LD) was observed among single nucleotide polymorphisms (SNPs) in the C6 exon 3 region.
  • Neutrality tests indicated significant values in the polymorphism-residing subregion across human populations.

Conclusions:

  • The findings suggest that the common C6A and C6B alleles in human populations may be maintained through balancing selection.
  • Recombination events may have contributed to the evolution of C6B2.