Missense Mutations of the Transforming Growth Factor β Type II Receptor in Human Head and Neck Squamous Carcinoma Cells

摘要: Abstract In this study, we report the occurrence of missense mutations transforming growth factor β (TGFβ) type II receptor gene in two human squamous head and neck carcinoma cell lines. Both are G:C→C:G transversions, which result replacement a glutamic acid by glutamine, an arginine proline residue, respectively. Moreover, both located at highly conserved sites within serine-threonine kinase domain. One mutants appears to be defective its autophosphorylation as well transphosphorylation TGFβ I protein, whereas second mutant constitutively activated. These first reported naturally occurring nucleotide substitution TβR-II cancer cells, may explain their resistance TGFβ1-mediated cycle arrest.