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A novel insertion variant of the human IL-23 receptor-α chain transcript

Genes & Immunity volume 9, pages 566–569 (2008)Cite this article

Abstract

Alternative splicing of mRNA is an important mechanism for organisms to enhance protein diversity from a limited number of genes. In this report, we described a novel exon insertion in the interleukin 23 (IL-23) receptor between exons 9 and 10, denoted as exon 9a. This 162 base-pair insertion was the only insertion variant discovered in more than 20 IL23R deletion variants found in the mRNA of mitogen-stimulated peripheral blood mononuclear cells (PBMC). Sequence analysis revealed that a pair of GT/AG splice donor–acceptor site and several putative cis-acting sequences were present; the insertion was identified throughout the genome and found to contain homology to the L1 retrotransposon protein. This report describes an insertion in the IL-23 receptor and due to consequent early termination within the intracellular region, causing a possible non-responsive receptor isoform.

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Acknowledgements

This work was funded intramurally by HUMIGEN LLC. All authors are employees of HUMIGEN.

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  1. G Mancini and S-h Kan: These authors contributed equally to this work.

Authors and Affiliations

  1. Genetic Immunology Laboratory, HUMIGEN LLC, The Institute for Genetic Immunology, Hamilton, NJ, USA

    G Mancini, S-h Kan & G Gallagher

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  1. G Mancini
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  2. S-h Kan
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  3. G Gallagher
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Correspondence to G Gallagher.

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Mancini, G., Kan, Sh. & Gallagher, G. A novel insertion variant of the human IL-23 receptor-α chain transcript. Genes Immun 9, 566–569 (2008). https://doi.org/10.1038/gene.2008.51

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