A mutation in the transforming growth factor beta type II receptor gene promoter associated with loss of gene expression.
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.
Cancer Cell Biology Program, H.L. Moffitt Cancer Center, University of South Florida School of Medicine, Tampa 33612, USA.
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Muñoz-Antonia
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Li
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Reiss
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Jackson
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Antonia
D002460:Cell Line; D015870:Gene Expression; D006801:Humans; D009154:Mutation; D011401:Promoter Regions, Genetic; D012333:RNA, Messenger / Q000032:analysis; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*
D012333:RNA, Messenger; D018125:Receptors, Transforming Growth Factor beta