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

M. Soejima, Hidenori Tachida, M. Tsuneoka, O. Takenaka, H. Kimura, Yoshiro Koda

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)239-252
Number of pages14
JournalAnnals of Human Genetics
Volume69
Issue number3
DOIs
Publication statusPublished - Jan 1 2005

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Complement C6
Sequence Analysis
Genes
Population
Alleles
Linkage Disequilibrium
Hominidae
Gene Frequency
Genetic Recombination
Single Nucleotide Polymorphism
Exons

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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Nucleotide sequence analyses of human complement 6 (C6) gene suggest balancing selection. / Soejima, M.; Tachida, Hidenori; Tsuneoka, M.; Takenaka, O.; Kimura, H.; Koda, Yoshiro.

In: Annals of Human Genetics, Vol. 69, No. 3, 01.01.2005, p. 239-252.

Research output: Contribution to journalArticle

Soejima, M, Tachida, H, Tsuneoka, M, Takenaka, O, Kimura, H & Koda, Y 2005, 'Nucleotide sequence analyses of human complement 6 (C6) gene suggest balancing selection', Annals of Human Genetics, vol. 69, no. 3, pp. 239-252. https://doi.org/10.1046/J.1469-1809.2005.00165.x
Soejima, M. ; Tachida, Hidenori ; Tsuneoka, M. ; Takenaka, O. ; Kimura, H. ; Koda, Yoshiro. / Nucleotide sequence analyses of human complement 6 (C6) gene suggest balancing selection. In: Annals of Human Genetics. 2005 ; Vol. 69, No. 3. pp. 239-252.
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