Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm

Detalhes bibliográficos
Autor(a) principal: Navarro-Costa, Paulo
Data de Publicação: 2010
Outros Autores: Nogueira, Paulo, Carvalho, Marta, Leal, Fernanda, Cordeiro, Inês, Calhaz-Jorge, Carlos, Gonçalves, João, Plancha, Carlos E.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/118
Resumo: Versão impressa: Hum Reprod. 2010 Oct;25(10):2647-54
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spelling Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human spermMale infertilitySpermatogenesisEpigeneticsDAZ gene familyDNA methylationDoenças GenéticasDeterminantes da Saúde e da DoençaEstados de Saúde e de DoençaVersão impressa: Hum Reprod. 2010 Oct;25(10):2647-54Background: Successful gametogenesis requires the establishment of an appropriate epigenetic state in developing germ cells. Nevertheless, an association between abnormal spermatogenesis and epigenetic disturbances in germline-specific genes remains to be demonstrated. Methods: In this study, the DNA methylation pattern of the promoter CpG island (CGI) of two germline regulator genes—DAZL and DAZ, was characterized by bisulphite genomic sequencing in quality-fractioned ejaculated sperm populations from normozoospermic (NZ) and oligoasthenoteratozoospermic (OAT) men. Results: OAT patients display increased methylation defects in the DAZL promoter CGI when compared with NZ controls. Such differences are recorded when analyzing sperm fractions enriched either in normal or defective germ cells (P , 0.001 in both cases). Significant differences in DNA methylation profiles are also observable when comparing the qualitatively distinct germ cell fractions inside the NZ and OAT groups (P ¼ 0.003 and P ¼ 0.007, respectively). Contrastingly, the unmethylation pattern of the DAZ promoter CGI remains correctly established in all experimental groups. Conclusions: An association between disrupted DNA methylation of a key spermatogenesis gene and abnormal human sperm is described here for the first time. These results suggest that incorrect epigenetic marks in germline genes may be correlated with male gametogenic defects.Repositório Científico do Instituto Nacional de SaúdeNavarro-Costa, PauloNogueira, PauloCarvalho, MartaLeal, FernandaCordeiro, InêsCalhaz-Jorge, CarlosGonçalves, JoãoPlancha, Carlos E.2011-09-06T15:36:54Z2010-08-042010-08-04T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/118engHum Reprod. Epub 2010 Aug 4. doi:10.1093/humrep/deq200ESSN:1460-2350info: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:RCAAP2023-07-20T15:38:00Zoai:repositorio.insa.pt:10400.18/118Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:35:19.424951Repositório 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 Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm
title Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm
spellingShingle Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm
Navarro-Costa, Paulo
Male infertility
Spermatogenesis
Epigenetics
DAZ gene family
DNA methylation
Doenças Genéticas
Determinantes da Saúde e da Doença
Estados de Saúde e de Doença
title_short Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm
title_full Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm
title_fullStr Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm
title_full_unstemmed Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm
title_sort Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm
author Navarro-Costa, Paulo
author_facet Navarro-Costa, Paulo
Nogueira, Paulo
Carvalho, Marta
Leal, Fernanda
Cordeiro, Inês
Calhaz-Jorge, Carlos
Gonçalves, João
Plancha, Carlos E.
author_role author
author2 Nogueira, Paulo
Carvalho, Marta
Leal, Fernanda
Cordeiro, Inês
Calhaz-Jorge, Carlos
Gonçalves, João
Plancha, Carlos E.
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Navarro-Costa, Paulo
Nogueira, Paulo
Carvalho, Marta
Leal, Fernanda
Cordeiro, Inês
Calhaz-Jorge, Carlos
Gonçalves, João
Plancha, Carlos E.
dc.subject.por.fl_str_mv Male infertility
Spermatogenesis
Epigenetics
DAZ gene family
DNA methylation
Doenças Genéticas
Determinantes da Saúde e da Doença
Estados de Saúde e de Doença
topic Male infertility
Spermatogenesis
Epigenetics
DAZ gene family
DNA methylation
Doenças Genéticas
Determinantes da Saúde e da Doença
Estados de Saúde e de Doença
description Versão impressa: Hum Reprod. 2010 Oct;25(10):2647-54
publishDate 2010
dc.date.none.fl_str_mv 2010-08-04
2010-08-04T00:00:00Z
2011-09-06T15:36:54Z
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.uri.fl_str_mv http://hdl.handle.net/10400.18/118
url http://hdl.handle.net/10400.18/118
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Hum Reprod. Epub 2010 Aug 4. doi:10.1093/humrep/deq200
ESSN:1460-2350
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.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
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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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