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  • Title: A mutation in the transforming growth factor beta type II receptor gene promoter associated with loss of gene expression.
    Author: Muñoz-Antonia T, Li X, Reiss M, Jackson R, Antonia S.
    Journal: Cancer Res; 1996 Nov 01; 56(21):4831-5. PubMed ID: 8895728.
    Abstract:
    Expression of transforming growth factor beta type II receptors (TbetaR-IIs) is either greatly decreased or absent in many tumors, implying that the loss of TbetaR-II function is one of the mechanisms leading to tumor development. In this report, we examine the expression of the TbetaR-II receptor in a squamous carcinoma cell line that expressed reduced levels of TbetaR-II mRNA. We found an A --> G mutation at position -364 of the 5' untranslated region of the TbetaR-II gene. This mutation results in significantly decreased transcriptional activity by the TbetaR-II gene promoter, suggesting that it is a primary mechanism of loss of TbetaR-II expression in this tumor cell line.
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