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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

Plcg2  -  phospholipase C, gamma 2

Mus musculus

Synonyms: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2, PLC-gamma-2, PLCgamma2, Phosphoinositide phospholipase C-gamma-2, Phospholipase C-gamma-2, ...
 
 
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Disease relevance of Plcg2

  • Plcg2-/- mice could not reject MHC class I-deficient lymphoma cells nor could they control CMV infection, but they effectively contained Listeria monocytogenes infection [1].
 

High impact information on Plcg2

  • By using N-ethyl-N-nitrosourea (ENU) mutagenesis to discover new immune regulators, we identified a point mutation in the murine phospholipase Cg2 (Plcg2) gene that leads to severe spontaneous inflammation and autoimmunity [2].
  • The underlying mechanism is a gain-of-function mutation in Plcg2, which leads to hyperreactive external calcium entry in B cells and expansion of innate inflammatory cells [2].
  • This mutant identifies Plcg2 as a key regulator in an autoimmune and inflammatory disease mediated by B cells and non-B, non-T haematopoietic cells and emphasizes that by distinct genetic modulation, a single point mutation can lead to a complex immunological phenotype [2].

References

  1. Phospholipase C-gamma2 is essential for NK cell cytotoxicity and innate immunity to malignant and virally infected cells. Caraux, A., Kim, N., Bell, S.E., Zompi, S., Ranson, T., Lesjean-Pottier, S., Garcia-Ojeda, M.E., Turner, M., Colucci, F. Blood (2006) [Pubmed]
  2. Autoimmunity and inflammation due to a gain-of-function mutation in phospholipase C gamma 2 that specifically increases external Ca2+ entry. Yu, P., Constien, R., Dear, N., Katan, M., Hanke, P., Bunney, T.D., Kunder, S., Quintanilla-Martinez, L., Huffstadt, U., Schröder, A., Jones, N.P., Peters, T., Fuchs, H., de Angelis, M.H., Nehls, M., Grosse, J., Wabnitz, P., Meyer, T.P., Yasuda, K., Schiemann, M., Schneider-Fresenius, C., Jagla, W., Russ, A., Popp, A., Josephs, M., Marquardt, A., Laufs, J., Schmittwolf, C., Wagner, H., Pfeffer, K., Mudde, G.C. Immunity (2005) [Pubmed]
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