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PMID:11489994
| Citation |
Poltorak, A, Merlin, T, Nielsen, PJ, Sandra, O, Smirnova, I, Schupp, I, Boehm, T, Galanos, C and Freudenberg, MA (2001) A point mutation in the IL-12R beta 2 gene underlies the IL-12 unresponsiveness of Lps-defective C57BL/10ScCr mice. J. Immunol. 167:2106-11 |
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| Abstract |
Lps-defective C57BL/10ScCr (Cr) mice are homozygous for a deletion encompassing Toll-like receptor 4 that makes them refractory to the biological activity of LPS. In addition, these mice exhibit an inherited IL-12 unresponsiveness resulting in impaired IFN-gamma responses to different microorganisms. By positional cloning methods, we show here that this second defect of Cr mice is due to a mutation in a single gene located on mouse chromosome 6, in close proximity to the Igkappa locus. The gene is IL-12Rbeta2. Cr mice carry a point mutation creating a stop codon that is predicted to cause premature termination of the translated IL-12Rbeta2 after a lysine residue at position 777. The truncated beta2 chain can still form a heterodimeric IL-12R that allows phosphorylation of Janus kinase 2, but, unlike the wild-type IL-12R, can no longer mediate phosphorylation of STAT4. Because the phosphorylation of STAT4 is a prerequisite for the IL-12-mediated induction of IFN-gamma, its absence in Cr mice is responsible for their defective IFN-gamma response to microorganisms. |
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| Keywords |
Animals; Cells, Cultured; Chromosome Mapping; Drosophila Proteins; Gene Deletion; Genetic Markers/immunology; Immune Tolerance/genetics; Interferon-gamma/biosynthesis; Interleukin-12/metabolism; Lipopolysaccharides/pharmacology; Membrane Glycoproteins/genetics; Mice; Mice, Inbred BALB C; Mice, Inbred C57BL/genetics; Mice, Inbred C57BL/immunology; Point Mutation; Receptors, Cell Surface/genetics; Receptors, Interleukin/genetics; Receptors, Interleukin/isolation & purification; Receptors, Interleukin/physiology; Receptors, Interleukin-12; Signal Transduction/genetics; Signal Transduction/immunology; Toll-Like Receptors |
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Significance
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| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
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