Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy

Detalhes bibliográficos
Autor(a) principal: Moraes, Lucia M.
Data de Publicação: 2009
Outros Autores: Cardoso, Leila C. A., Moura, Vera L. S., Moreira, Miguel A. M., Menezes, Albert N., Llerena Junior, Juan Clinton, Seuánez, Héctor N.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/10237
Resumo: Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil.
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spelling Moraes, Lucia M.Cardoso, Leila C. A.Moura, Vera L. S.Moreira, Miguel A. M.Menezes, Albert N.Llerena Junior, Juan ClintonSeuánez, Héctor N.2015-05-05T14:47:54Z2015-05-05T14:47:54Z2009MORAES, Lucia M. et al. Detailed analysis of x chromosome inactivation in a 49,xxxxx pentasomy. Molecular Cytogenetics, v. 2, n. 20, p. 1-13, 2009.1755-8166https://www.arca.fiocruz.br/handle/icict/1023710.1186/1755-8166-2-20engBioMed CentralDetailed analysis of X chromosome inactivation in a 49,XXXXX pentasomyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Divisão Genética. Rio de Janeiro, RJ, Brasil. / Universidade Federal do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Divisão Genética. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Divisão Genética. Rio de Janeiro, RJ, Brasil. / Universidade Federal do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Divisão Genética. Rio de Janeiro, RJ, Brasil. / Universidade Federal do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Pentasomy X (49,XXXXX) has been associated with a severe clinical condition, presumably resulting from failure or disruption of X chromosome inactivation. Here we report that some human X chromosomes from a patient with 49,XXXXX pentasomy were functionally active following isolation in inter-specific (human-rodent) cell hybrids. A comparison with cytogenetic and molecular findings provided evidence that more than one active X chromosome was likely to be present in the cells of this patient, accounting for her abnormal phenotype. Results: 5-bromodeoxyuridine (BrdU)-pulsed cultures showed different patterns among late replicating X chromosomes suggesting that their replication was asynchronic and likely to result in irregular inactivation. Genotyping of the proband and her mother identified four maternal and one paternal X chromosomes in the proband. It also identified the paternal X chromosome haplotype (P), indicating that origin of this X pentasomy resulted from two maternal, meiotic nondisjunctions. Analysis of the HUMANDREC region of the androgen receptor (AR) gene in the patient's mother showed a skewed inactivation pattern, while a similar analysis in the proband showed an active paternal X chromosome and preferentially inactivated X chromosomes carrying the 173 AR allele. Analyses of 33 cell hybrid cell lines selected in medium containing hypoxanthine, aminopterin and thymidine (HAT) allowed for the identification of three maternal X haplotypes (M1, M2 and MR) and showed that X chromosomes with the M1, M2 and P haplotypes were functionally active. In 27 cell hybrids in which more than one X haplotype were detected, analysis of X inactivation patterns provided evidence of preferential inactivation. Conclusion: Our findings indicated that 12% of X chromosomes with the M1 haplotype, 43.5% of X chromosomes with the M2 haplotype, and 100% of the paternal X chromosome (with the P haplotype) were likely to be functionally active in the proband's cells, a finding indicating that disruption of X inactivation was associated to her severe phenotype.X chromosomePentasomy X (49,XXXXX)CytogeneticCromossomosCélulasCélulas Híbridasinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82352https://www.arca.fiocruz.br/bitstream/icict/10237/1/license.txtafbdf7d7a9bcf771a1cc7edf5f618413MD51ORIGINALDetailed analysis of X chro.pdfDetailed analysis of X chro.pdfapplication/pdf879428https://www.arca.fiocruz.br/bitstream/icict/10237/2/Detailed%20analysis%20of%20X%20chro.pdfd9ea4a795d88e0ac780d8e388f40a35aMD52TEXTDetailed analysis of X chro.pdf.txtDetailed analysis of X chro.pdf.txtExtracted texttext/plain43638https://www.arca.fiocruz.br/bitstream/icict/10237/3/Detailed%20analysis%20of%20X%20chro.pdf.txte26c42dbfda3d1ea1d8e43bb5ccd03dcMD53icict/102372020-05-25 12:08:09.105oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352020-05-25T15:08:09Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy
title Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy
spellingShingle Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy
Moraes, Lucia M.
X chromosome
Pentasomy X (49,XXXXX)
Cytogenetic
Cromossomos
Células
Células Híbridas
title_short Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy
title_full Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy
title_fullStr Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy
title_full_unstemmed Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy
title_sort Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy
author Moraes, Lucia M.
author_facet Moraes, Lucia M.
Cardoso, Leila C. A.
Moura, Vera L. S.
Moreira, Miguel A. M.
Menezes, Albert N.
Llerena Junior, Juan Clinton
Seuánez, Héctor N.
author_role author
author2 Cardoso, Leila C. A.
Moura, Vera L. S.
Moreira, Miguel A. M.
Menezes, Albert N.
Llerena Junior, Juan Clinton
Seuánez, Héctor N.
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Moraes, Lucia M.
Cardoso, Leila C. A.
Moura, Vera L. S.
Moreira, Miguel A. M.
Menezes, Albert N.
Llerena Junior, Juan Clinton
Seuánez, Héctor N.
dc.subject.en.pt_BR.fl_str_mv X chromosome
Pentasomy X (49,XXXXX)
Cytogenetic
topic X chromosome
Pentasomy X (49,XXXXX)
Cytogenetic
Cromossomos
Células
Células Híbridas
dc.subject.decs.pt_BR.fl_str_mv Cromossomos
Células
Células Híbridas
description Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil.
publishDate 2009
dc.date.issued.fl_str_mv 2009
dc.date.accessioned.fl_str_mv 2015-05-05T14:47:54Z
dc.date.available.fl_str_mv 2015-05-05T14:47:54Z
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.citation.fl_str_mv MORAES, Lucia M. et al. Detailed analysis of x chromosome inactivation in a 49,xxxxx pentasomy. Molecular Cytogenetics, v. 2, n. 20, p. 1-13, 2009.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/10237
dc.identifier.issn.none.fl_str_mv 1755-8166
dc.identifier.doi.pt_BR.fl_str_mv 10.1186/1755-8166-2-20
identifier_str_mv MORAES, Lucia M. et al. Detailed analysis of x chromosome inactivation in a 49,xxxxx pentasomy. Molecular Cytogenetics, v. 2, n. 20, p. 1-13, 2009.
1755-8166
10.1186/1755-8166-2-20
url https://www.arca.fiocruz.br/handle/icict/10237
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
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https://www.arca.fiocruz.br/bitstream/icict/10237/2/Detailed%20analysis%20of%20X%20chro.pdf
https://www.arca.fiocruz.br/bitstream/icict/10237/3/Detailed%20analysis%20of%20X%20chro.pdf.txt
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