Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibility
Autor(a) principal: | |
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Data de Publicação: | 2005 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.21/8620 |
Resumo: | Gastric cancer remains a major cause of death in the developed countries, and a large percentage is still genetically unexplained. Because of their major role in cell survival, mutations in translation factors and altered expression of these genes have been associated with cancer development. Apart from its role in translation termination, the eukaryotic translation release factor 3 (eRF3) is involved in several critical cellular processes, such as cell cycle regulation, cytoskeleton organization, and apoptosis. The aim of this study was to evaluate eRF3/GSPT1 gene as a potential genetic susceptibility associated locus for gastric cancer, analyzing a stable GGC expansion in exon 1 encoding a polyglycine tract in the N-terminal domain of the protein. DNA was obtained from 139 patients with gastric cancer and from 100 individuals of a healthy control population. The GGC expansion was amplified by PCR and the number of repeats determined by genotyping in an automatic sequencer. There are five known alleles encoding from 8 to 12 glycines. The most common allele encodes 10 glycines. The 12-Gly allele was detected exclusively in the cancer patients (allelic frequency = 5%). Regardless of the genotype, patients with the 12-Gly allele had a 20-fold increased risk for gastric cancer. We also detected a single-base alteration in the gene (G274T) although no correlation with cancer development has been found. Thus, our results show that the GGC expansion may have a potential role in regulating eRF3/GSPT1 expression and/or changing the protein function that can lead to gastric cancer development. |
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Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibilityAdenocarcinomaAdenocarcinoma, MucinousAmino acid sequenceDNADisease susceptibilityExonsMolecular sequence dataPeptide termination factorsPeptidesSequence homology, Amino acidStomach neoplasmsTrinucleotide repeat expansionGastric cancer remains a major cause of death in the developed countries, and a large percentage is still genetically unexplained. Because of their major role in cell survival, mutations in translation factors and altered expression of these genes have been associated with cancer development. Apart from its role in translation termination, the eukaryotic translation release factor 3 (eRF3) is involved in several critical cellular processes, such as cell cycle regulation, cytoskeleton organization, and apoptosis. The aim of this study was to evaluate eRF3/GSPT1 gene as a potential genetic susceptibility associated locus for gastric cancer, analyzing a stable GGC expansion in exon 1 encoding a polyglycine tract in the N-terminal domain of the protein. DNA was obtained from 139 patients with gastric cancer and from 100 individuals of a healthy control population. The GGC expansion was amplified by PCR and the number of repeats determined by genotyping in an automatic sequencer. There are five known alleles encoding from 8 to 12 glycines. The most common allele encodes 10 glycines. The 12-Gly allele was detected exclusively in the cancer patients (allelic frequency = 5%). Regardless of the genotype, patients with the 12-Gly allele had a 20-fold increased risk for gastric cancer. We also detected a single-base alteration in the gene (G274T) although no correlation with cancer development has been found. Thus, our results show that the GGC expansion may have a potential role in regulating eRF3/GSPT1 expression and/or changing the protein function that can lead to gastric cancer development.Oxford University PressRCIPLBrito, MiguelMalta-Vacas, JoanaCarmona, BrunoAires, C.Costa, P.Martins, A. P.Ramos, S.Conde, A. R.Monteiro, C.2018-06-11T16:56:47Z2005-122005-12-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.21/8620engBrito M, Malta-Vacas J, Carmona B, Aires C, Costa P, Martins AP, et al. Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibility. Carcinogenesis. 2005;26(12):2046-9.10.1093/carcin/bgi168info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-08-03T09:56:16Zoai:repositorio.ipl.pt:10400.21/8620Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:17:21.220350Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibility |
title |
Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibility |
spellingShingle |
Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibility Brito, Miguel Adenocarcinoma Adenocarcinoma, Mucinous Amino acid sequence DNA Disease susceptibility Exons Molecular sequence data Peptide termination factors Peptides Sequence homology, Amino acid Stomach neoplasms Trinucleotide repeat expansion |
title_short |
Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibility |
title_full |
Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibility |
title_fullStr |
Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibility |
title_full_unstemmed |
Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibility |
title_sort |
Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibility |
author |
Brito, Miguel |
author_facet |
Brito, Miguel Malta-Vacas, Joana Carmona, Bruno Aires, C. Costa, P. Martins, A. P. Ramos, S. Conde, A. R. Monteiro, C. |
author_role |
author |
author2 |
Malta-Vacas, Joana Carmona, Bruno Aires, C. Costa, P. Martins, A. P. Ramos, S. Conde, A. R. Monteiro, C. |
author2_role |
author author author author author author author author |
dc.contributor.none.fl_str_mv |
RCIPL |
dc.contributor.author.fl_str_mv |
Brito, Miguel Malta-Vacas, Joana Carmona, Bruno Aires, C. Costa, P. Martins, A. P. Ramos, S. Conde, A. R. Monteiro, C. |
dc.subject.por.fl_str_mv |
Adenocarcinoma Adenocarcinoma, Mucinous Amino acid sequence DNA Disease susceptibility Exons Molecular sequence data Peptide termination factors Peptides Sequence homology, Amino acid Stomach neoplasms Trinucleotide repeat expansion |
topic |
Adenocarcinoma Adenocarcinoma, Mucinous Amino acid sequence DNA Disease susceptibility Exons Molecular sequence data Peptide termination factors Peptides Sequence homology, Amino acid Stomach neoplasms Trinucleotide repeat expansion |
description |
Gastric cancer remains a major cause of death in the developed countries, and a large percentage is still genetically unexplained. Because of their major role in cell survival, mutations in translation factors and altered expression of these genes have been associated with cancer development. Apart from its role in translation termination, the eukaryotic translation release factor 3 (eRF3) is involved in several critical cellular processes, such as cell cycle regulation, cytoskeleton organization, and apoptosis. The aim of this study was to evaluate eRF3/GSPT1 gene as a potential genetic susceptibility associated locus for gastric cancer, analyzing a stable GGC expansion in exon 1 encoding a polyglycine tract in the N-terminal domain of the protein. DNA was obtained from 139 patients with gastric cancer and from 100 individuals of a healthy control population. The GGC expansion was amplified by PCR and the number of repeats determined by genotyping in an automatic sequencer. There are five known alleles encoding from 8 to 12 glycines. The most common allele encodes 10 glycines. The 12-Gly allele was detected exclusively in the cancer patients (allelic frequency = 5%). Regardless of the genotype, patients with the 12-Gly allele had a 20-fold increased risk for gastric cancer. We also detected a single-base alteration in the gene (G274T) although no correlation with cancer development has been found. Thus, our results show that the GGC expansion may have a potential role in regulating eRF3/GSPT1 expression and/or changing the protein function that can lead to gastric cancer development. |
publishDate |
2005 |
dc.date.none.fl_str_mv |
2005-12 2005-12-01T00:00:00Z 2018-06-11T16:56:47Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.21/8620 |
url |
http://hdl.handle.net/10400.21/8620 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Brito M, Malta-Vacas J, Carmona B, Aires C, Costa P, Martins AP, et al. Polyglycine expansions in eRF3/GSPT1 are associated with gastric cancer susceptibility. Carcinogenesis. 2005;26(12):2046-9. 10.1093/carcin/bgi168 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Oxford University Press |
publisher.none.fl_str_mv |
Oxford University Press |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799133435262926848 |