Genes Immun. 2008 Sep;9(6):566-9. Epub 2008 Jul 10.

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

Source

Genetic 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.

PMID:: 18615094; [PubMed - indexed for MEDLINE]

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Research Support, Non-U.S. Gov't

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GENBANK/AM990337

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