Carta Produção Nacional Revisado por pares

Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?

2010; Wiley; Volume: 79; Issue: 1 Linguagem: Inglês

10.1111/j.1399-0004.2010.01508.x

ISSN

1399-0004

Autores

V.E. Emmel, Isabel Alonso, LB Jardim, Maria Luiza Saraiva Pereira, Jorge Sequeiros,

Tópico(s)

Diabetes and associated disorders

Resumo

Clinical GeneticsVolume 79, Issue 1 p. 100-102 Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients? VE Emmel, VE Emmel Laboratório de Identificação Genética, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil Departamento de Genética, Universidade Federal do Rio Grande do Sul, Brazil Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, BrazilSearch for more papers by this authorI Alonso, I Alonso UnIGENe, IBMC – Institute for Molecular and Cell Biology, University of Porto, PortugalSearch for more papers by this authorLB Jardim, LB Jardim Laboratório de Identificação Genética, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil Departamento de Medicina InternaSearch for more papers by this authorML Saraiva-Pereira, Corresponding Author ML Saraiva-Pereira Laboratório de Identificação Genética, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil Departamento de Genética, Universidade Federal do Rio Grande do Sul, Brazil Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, BrazilMaria Luiza Saraiva-Pereira, PhDLaboratório de Identificação GenéticaCentro de Pesquisa ExperimentalHospital de Clínicas de Porto Alegre - Serviço de Genética MédicaRamiro Barcelos 2350 – CEP 90035-903Porto AlegreRio Grande do SulBrazilTel.: +55 51 33598011Fax: +55 51 33598010e-mail: [email protected]Search for more papers by this authorJ Sequeiros, J Sequeiros UnIGENe, IBMC – Institute for Molecular and Cell Biology, University of Porto, PortugalSearch for more papers by this author VE Emmel, VE Emmel Laboratório de Identificação Genética, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil Departamento de Genética, Universidade Federal do Rio Grande do Sul, Brazil Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, BrazilSearch for more papers by this authorI Alonso, I Alonso UnIGENe, IBMC – Institute for Molecular and Cell Biology, University of Porto, PortugalSearch for more papers by this authorLB Jardim, LB Jardim Laboratório de Identificação Genética, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil Departamento de Medicina InternaSearch for more papers by this authorML Saraiva-Pereira, Corresponding Author ML Saraiva-Pereira Laboratório de Identificação Genética, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil Departamento de Genética, Universidade Federal do Rio Grande do Sul, Brazil Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Brazil Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, BrazilMaria Luiza Saraiva-Pereira, PhDLaboratório de Identificação GenéticaCentro de Pesquisa ExperimentalHospital de Clínicas de Porto Alegre - Serviço de Genética MédicaRamiro Barcelos 2350 – CEP 90035-903Porto AlegreRio Grande do SulBrazilTel.: +55 51 33598011Fax: +55 51 33598010e-mail: [email protected]Search for more papers by this authorJ Sequeiros, J Sequeiros UnIGENe, IBMC – Institute for Molecular and Cell Biology, University of Porto, PortugalSearch for more papers by this author First published: 09 December 2010 https://doi.org/10.1111/j.1399-0004.2010.01508.xCitations: 9Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Kawaguchi Y, Okamoto T, Taniwaki M et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994: 8: 221–228. 2 Maruyama H, Nakamura S, Matsuyama Z et al. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Hum Mol Genet 1995: 4 (5): 807–812. 3 Van De Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC et al. Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. Neurology 2002: 58 (5): 702–708. 4 Bilen J, Bonini NM. Genome-wide screen for modifiers of ataxin-3 neurodegeneration in Drosophila. PLoS Genet 2007: 3 (10): 1950–1964. 5 Miller SA, Dykes DD, Polesky HF. A simple salting-out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988: 16 (3): 1215. 6 Nygren AO, Ameziane N, Duarte HM et al. Methylation specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Res 2005: 33 (14): e128. 7 Schmitt I, Evert BO, Khazneh H et al. The human MJD gene: genomic structure and functional characterization of the promoter region. Gene 2003: 18: 81–88. 8 Wu J, Grindlay GJ, Bushel P et al. Negative regulation of the human epsilon-globin gene by transcriptional interference: role of an Alu repetitive element. Mol Cell Biol 1990: 10 (3): 1209–1216. 9 Schmid CW. Human Alu subfamilies and their methylation revealed by blot hybridization. Nucleic Acids Res 1991: 19 (20): 5613–5617. 10 Armstrong RC, Kim JG, Hudson LD. Expression of myelin transcription factor I (MyTI), a "zinc-finger" DNA-binding protein, in developing oligodendrocytes. Glia 1995: 14 (4): 303–321. Citing Literature Volume79, Issue1January 2011Pages 100-102 ReferencesRelatedInformation

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