Mutations in exon 3 of the beta-catenin gene have been ident...

created [InstanceEdit:5262591] Rothfels, K, 2014-02-07
dbId 5262592
displayName Mutations in exon 3 of the beta-catenin gene have been ident...
modified [InstanceEdit:5545647] Rothfels, Karen, 2014-05-22
schemaClass Summation
text Mutations in exon 3 of the beta-catenin gene have been identified in a number of human cancers (Morin et al, 1997; Rubinfeld et al, 1997; reviewed in Polakis, 2000; Polakis, 2007). These mutations generally affect serine and threonine residues (S33, S37, T41, S45) that are the sites of phosphorylation by CK1 and GSK3; phosphorylation of these residues is required for the ubiquitin-mediated degradation of beta-catenin. Hence mutation of these phospho-acceptor sites stabilizes beta-catenin, allowing it to accumulate, translocate to the nucleus and activate WNT signaling through association with LEF1/TCF DNA binding partners (Hart et al, 1999; Peifer and Polakis, 2000; Laurent-Puig et al, 2001; reviewed in Saito-Diaz et al, 2013).
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