Journal Article

Comprehensive Sequence Analysis of the Human <i>IL23A</i> Gene Defines New Variation Content and High Rate of Evolutionary Conservation

Elizabeth A. Tindall and Vanessa M. Hayes

in DNA Research

Published on behalf of Kazusa DNA Research Institute

Volume 17, issue 2, pages 117-122
Published in print April 2010 | ISSN: 1340-2838
Published online February 2010 | e-ISSN: 1756-1663 | DOI: http://dx.doi.org/10.1093/dnares/dsq003

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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.

Keywords: IL-23; IL23A; novel variants; genetic conservation

Journal Article.  2927 words.  Illustrated.

Subjects: Genetics and Genomics

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