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Provedor de dados:  Genet. Mol. Biol.
País:  Brazil
Título:  Polymorphisms in promoter sequences of MDM2, p53, and p16INK4a genes in normal Japanese individuals
Autores:  Ohsaka,Yasuhito
Nishino,Hoyoku
Data:  2010-01-01
Ano:  2010
Palavras-chave:  Murine double minute 2
Polymorphism
P16INK4a
P53
Transcription
Resumo:  Research has been conducted to identify sequence polymorphisms of gene promoter regions in patients and control subjects, including normal individuals, and to determine the influence of these polymorphisms on transcriptional regulation in cells that express wild-type or mutant p53. In this study we isolated genomic DNA from whole blood of healthy Japanese individuals and sequenced the promoter regions of the MDM2, p53, and p16INK4a genes. We identified polymorphisms comprising 3 nucleotide substitutions at exon 1 and intron 1 regions of the MDM2 gene and 1 nucleotide insertion at a poly(C) nucleotide position in the p53 gene. The Japanese individuals also exhibited p16INK4a polymorphisms at several positions, including position -191. Reporter gene analysis by using luciferase revealed that the polymorphisms of MDM2, p53, and p16INK4a differentially altered luciferase activities in several cell lines, including the Colo320DM, U251, and T98G cell lines expressing mutant p53. Our results indicate that the promoter sequences of these genes differ among normal Japanese individuals and that polymorphisms can alter gene transcription activity.
Tipo:  Info:eu-repo/semantics/article
Idioma:  Inglês
Identificador:  http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400004
Editor:  Sociedade Brasileira de Genética
Relação:  10.1590/S1415-47572010000400004
Formato:  text/html
Fonte:  Genetics and Molecular Biology v.33 n.4 2010
Direitos:  info:eu-repo/semantics/openAccess
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