Comprehensive sequence analysis of the human IL23A gene defines new variation content and high rate of evolutionary conservation

DNA Res. 2010 Apr;17(2):117-22. doi: 10.1093/dnares/dsq003. Epub 2010 Feb 12.

Abstract

A newly described heterodimeric cytokine, interleukin-23 (IL-23) is emerging as a key player in both the innate and the adaptive T helper (Th)17 driven immune response as well as an initiator of several autoimmune diseases. The rate-limiting element of IL-23 production is believed to be driven by expression of the unique p19 subunit encoded by IL23A. We set out to perform comprehensive DNA sequencing of this previously under-studied gene in 96 individuals from two evolutionary distinct human population groups, Southern African Bantu and European. We observed a total of 33 different DNA variants within these two groups, 22 (67%) of which are currently not reported in any available database. We further demonstrate both inter-population and intra-species sequence conservation within the coding and known regulatory regions of IL23A, supporting a critical physiological role for IL-23. We conclude that IL23A may have undergone positive selection pressure directed towards conservation, suggesting that functional genetic variants within IL23A will have a significant impact on the host immune response.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Evolution, Molecular*
  • Genetic Variation / genetics*
  • Humans
  • Interleukin-23 Subunit p19 / genetics*
  • Phylogeny
  • Sequence Analysis, DNA

Substances

  • IL23A protein, human
  • Interleukin-23 Subunit p19