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Updated: Jul 3, 2026

Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
Published on: November 26, 2018
A novel insertion variant of the human IL-23 receptor-alpha chain transcript
G Mancini1, S-h Kan, G Gallagher
1Genetic Immunology Laboratory, HUMIGEN LLC, The Institute for Genetic Immunology, Hamilton, NJ, USA.
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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