Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy
Autor(a) principal: | |
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Data de Publicação: | 2009 |
Outros Autores: | , , , , , |
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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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 |
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reponame:Repositório Institucional da FIOCRUZ (ARCA) instname:Fundação Oswaldo Cruz (FIOCRUZ) instacron:FIOCRUZ |
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Fundação Oswaldo Cruz (FIOCRUZ) |
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FIOCRUZ |
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FIOCRUZ |
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Repositório Institucional da FIOCRUZ (ARCA) |
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Repositório Institucional da FIOCRUZ (ARCA) |
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