Nucleotide Sequence Analyses of Human Complement 6 (C6) Gene Suggest Balancing Selection

Summary The sixth complement component (C6) has a common charge polymorphism, C6A and C6B, with similar gene frequencies in all major populations. In addition, C6B2 is also found in Japanese populations at a frequency of about 6%. Sequence analyses of the coding region of three human and ape C6 alle...

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Bibliographic Details
Published in:Annals of human genetics 2005-05, Vol.69 (3), p.239-252
Main Authors: Soejima, M., Tachida, H., Tsuneoka, M., Takenaka, O., Kimura, H., Koda, Y.
Format: Article
Language:English
Subjects:
Animals
balancing selection
Base Sequence
Complement C6 - genetics
complement component 6
Genetics, Population
Humans
Japan
Molecular Sequence Data
nucleotide
Pan troglodytes - genetics
Polymerase Chain Reaction
Polymorphism, Genetic
Pongo pygmaeus - genetics
Recombination, Genetic
Selection, Genetic
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Summary:Summary The sixth complement component (C6) has a common charge polymorphism, C6A and C6B, with similar gene frequencies in all major populations. In addition, C6B2 is also found in Japanese populations at a frequency of about 6%. Sequence analyses of the coding region of three human and ape C6 alleles indicated four nonsynonymous and three synonymous changes in C6*B2 relative to C6*A, suggesting that a recombination event occurred between C6*B2 and C6*A to give rise to C6*B. Sequence variation in a 3.86 kb region encompassing exon 3, where the causal base change of the common C6 polymorphism is found, indicated that several single nucleotide polymorphisms (SNPs) were in extensive linkage disequilibrium (LD), with little differentiation among populations. Sliding window estimates of two test statistics for neutrality revealed significant values in a subregion where the replacement coding polymorphism resides, in all three human populations. These results raise the possibility that the two common C6 alleles in human populationsw are maintained by balancing selection.
ISSN:0003-4800
1469-1809
DOI:10.1046/J.1469-1809.2005.00165.x