title: Missense mutations of the transforming growth factor beta type II receptor in human head and neck squamous carcinoma cells.
abstract: In this study, we report the occurrence of missense mutations of the transforming growth factor beta (TGF beta) type II receptor gene in two human squamous head and neck carcinoma cell lines. Both mutations are G:C-->C:G transversions, which result in the replacement of a glutamic acid by a glutamine, and of an arginine by a proline residue, respectively. Moreover, both are located at highly conserved sites within the serine-threonine kinase domain. One of the mutants appears to be defective in its autophosphorylation as well as in the transphosphorylation of the TGF beta type 1 receptor protein, whereas the second mutant appears to be constitutively activated. These are the first reported naturally occurring nucleotide substitution mutations in the T beta R-11 gene in human head and neck cancer cells, which may explain their resistance to TGF beta 1-mediated cell cycle arrest.
authors.affiliation: Department of Medicine, Yale University School of Medicine, New Haven, Connecticut 06520-8032, USA.
authors.forename: L
authors.initials: L
authors.lastname: Garrigue-Antar
authors.forename: T
authors.initials: T
authors.lastname: Muñoz-Antonia
authors.forename: S J
authors.initials: SJ
authors.lastname: Antonia
authors.forename: J
authors.initials: J
authors.lastname: Gesmonde
authors.forename: V F
authors.initials: VF
authors.lastname: Vellucci
authors.forename: M
authors.initials: M
authors.lastname: Reiss
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D002478:Cells, Cultured; D016147:Genes, Tumor Suppressor; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010766:Phosphorylation; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*
chemical_list: D018125:Receptors, Transforming Growth Factor beta