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

2010-08-04Journal article Open access
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dc.contributor.authorNavarro-Costa, Paulo
dc.contributor.authorNogueira, Paulo
dc.contributor.authorCarvalho, Marta
dc.contributor.authorLeal, Fernanda
dc.contributor.authorCordeiro, Inês
dc.contributor.authorCalhaz-Jorge, Carlos
dc.contributor.authorGonçalves, João
dc.contributor.authorPlancha, Carlos E.
dc.date.accessioned2011-09-06T15:36:54Z
dc.date.available2011-09-06T15:36:54Z
dc.date.issued2010-08-04
dc.descriptionVersão impressa: Hum Reprod. 2010 Oct;25(10):2647-54por
dc.description.abstractBackground: 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.por
dc.identifier.citationHum Reprod. Epub 2010 Aug 4. doi:10.1093/humrep/deq200por
dc.identifier.otherESSN:1460-2350
dc.identifier.urihttp://hdl.handle.net/10400.18/118
dc.language.isoengpor
dc.peerreviewedyespor
dc.relation.publisherversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2939755/pdf/deq200.pdfpor
dc.subjectMale infertilitypor
dc.subjectSpermatogenesispor
dc.subjectEpigeneticspor
dc.subjectDAZ gene familypor
dc.subjectDNA methylationpor
dc.subjectDoenças Genéticaspor
dc.subjectDeterminantes da Saúde e da Doençapor
dc.subjectEstados de Saúde e de Doençapor
dc.titleIncorrect DNA methylation of the DAZL promoter CpG island associates with defective human spermpor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleHuman Reproductionpor
rcaap.rightsopenAccesspor
rcaap.typearticlepor

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