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Hum Mutat ; 31(1): 74-80, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19830810

RESUMO

Advanced prostate cancer (PCa) has emerged as a public health concern due to population aging. Although androgen deprivation has proven efficacy in this condition, most advanced PCa patients will have to face failure of androgen deprivation as a treatment. Mutations in the androgen receptor (AR) from tumor cells have been shown to induce androgen independency both in PCa cell lines and in the clinic. We have investigated the molecular events leading to androgen independency in the 22Rv1 cell line, a commonly used preclinical model of PCa. Besides AR mutants that have been described so far, including nonsense mutations, recent data have focused on AR pre-mRNA aberrant splicing as a new mechanism leading to constitutively active truncated AR variants. In this article, we describe two novel variants arising from aberrant splicing of AR pre-mRNA, characterized by long mRNA transcripts that encode truncated, constitutively active proteins. We also describe several new nonsense mutants that share ligand independency and transcriptional activity. Finally, we show that alongside these mutants, 22Rv1 cells also express a mutant AR lacking exon 3 tandem duplication, a major feature of this cell line. By describing unreported AR mutants in the 22Rv1 cell line, our data emphasize the complexity and heterogeneity of molecular events that occur in preclinical models, and supposedly in the clinic. Future work on the 22Rv1 cell line should take into account the concomitant expression of various AR mutants.


Assuntos
Processamento Alternativo , Mutação , Neoplasias Hormônio-Dependentes/genética , Neoplasias da Próstata/genética , Precursores de RNA , Receptores Androgênicos/genética , Androgênios/metabolismo , Linhagem Celular Tumoral , Éxons , Regulação Neoplásica da Expressão Gênica , Variação Genética , Humanos , Masculino , Precursores de RNA/genética , Precursores de RNA/metabolismo , Receptores Androgênicos/metabolismo
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