Polymorphisms in promoter sequences of MDM2, p53, and p16INK4a genes in normal Japanese individuals

Detalhes bibliográficos
Autor(a) principal: Ohsaka,Yasuhito
Data de Publicação: 2010
Outros Autores: Nishino,Hoyoku
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400004
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.
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spelling Polymorphisms in promoter sequences of MDM2, p53, and p16INK4a genes in normal Japanese individualsMurine double minute 2polymorphismp16INK4ap53transcriptionResearch 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.Sociedade Brasileira de Genética2010-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400004Genetics and Molecular Biology v.33 n.4 2010reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572010000400004info:eu-repo/semantics/openAccessOhsaka,YasuhitoNishino,Hoyokueng2011-01-06T00:00:00Zoai:scielo:S1415-47572010000400004Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2011-01-06T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv Polymorphisms in promoter sequences of MDM2, p53, and p16INK4a genes in normal Japanese individuals
title Polymorphisms in promoter sequences of MDM2, p53, and p16INK4a genes in normal Japanese individuals
spellingShingle Polymorphisms in promoter sequences of MDM2, p53, and p16INK4a genes in normal Japanese individuals
Ohsaka,Yasuhito
Murine double minute 2
polymorphism
p16INK4a
p53
transcription
title_short Polymorphisms in promoter sequences of MDM2, p53, and p16INK4a genes in normal Japanese individuals
title_full Polymorphisms in promoter sequences of MDM2, p53, and p16INK4a genes in normal Japanese individuals
title_fullStr Polymorphisms in promoter sequences of MDM2, p53, and p16INK4a genes in normal Japanese individuals
title_full_unstemmed Polymorphisms in promoter sequences of MDM2, p53, and p16INK4a genes in normal Japanese individuals
title_sort Polymorphisms in promoter sequences of MDM2, p53, and p16INK4a genes in normal Japanese individuals
author Ohsaka,Yasuhito
author_facet Ohsaka,Yasuhito
Nishino,Hoyoku
author_role author
author2 Nishino,Hoyoku
author2_role author
dc.contributor.author.fl_str_mv Ohsaka,Yasuhito
Nishino,Hoyoku
dc.subject.por.fl_str_mv Murine double minute 2
polymorphism
p16INK4a
p53
transcription
topic Murine double minute 2
polymorphism
p16INK4a
p53
transcription
description 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.
publishDate 2010
dc.date.none.fl_str_mv 2010-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400004
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400004
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572010000400004
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.33 n.4 2010
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
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