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DAZ gene copies: evidence of Y chromosome evolution

2006Journal article Open access
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dc.contributor.authorFernandes, Ana Teresa
dc.contributor.authorFernandes, Susana
dc.contributor.authorGonçalves, Rita
dc.contributor.authorSá, Rosália
dc.contributor.authorCosta, Paula
dc.contributor.authorRosa, Alexandra
dc.contributor.authorFarrás, Cristina
dc.contributor.authorSousa, Mário
dc.contributor.authorBrehm, António
dc.contributor.authorBarros, Alberto
dc.date.accessioned2020-11-30T16:17:52Z
dc.date.available2020-11-30T16:17:52Z
dc.date.issued2006
dc.description.abstractThe DAZ gene, a contributing factor in infertility, lies on the human Y chromosome's AZFc region, whose deletion is a common cause of spermatogenic failure. Y chromosome binary polymorphisms on the non-recombining Y (NRY) region, believed to be a single occurrence on an evolutionary scale, were typed in a sample of fertile and infertile men with known DAZ backgrounds. The Y single-nucleotide polymorphisms (Y-SNPs) with low mutation rates are currently well characterized and permit the construction of a unique phylogeny of haplogroups. DAZ haplotypes were defined using single-nucleotide variant (SNV)/sequence tagged-site (STS) markers to distinguish between the four copies of the gene. The variation of 10 Y chromosome short tandem repeat (STRs) was used to determine the coalescence age of DAZ haplotypes in a comparable time frame similar to that of SNP haplogroups. An association between DAZ haplotypes and Y chromosome haplogroups was found, and our data show that the DAZ gene is not under selective constraints and its evolution depends only on the mutation rate. The same variants were common to fertile and infertile men, although partial DAZ deletions occurred only in infertile men, suggesting that those should only be used as a tool for infertility diagnosis when analysed in combination with haplogroup determinations.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationFernandes, A. T., Fernandes, S., Gonçalves, R., Sá, R., Costa, P., Rosa, A., ... & Barros, A. (2006). DAZ gene copies: evidence of Y chromosome evolution. MHR: Basic science of reproductive medicine, 12(8), 519-523.pt_PT
dc.identifier.doi10.1093/molehr/gal051pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.13/3015
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherEuropean Society of Human Reproduction and Embryologypt_PT
dc.relation6664/01pt_PT
dc.relationCARACTERIZAÇÃO CELULAR E MOLECULAR DAS CÉLULAS ESTAMINAIS ADULTAS DO EPITÉLIO GERMINAL MASCULINO. MOLECULAR CELL BIOLOGY CHARACTERIZATION OF HUMAN MALE TESTICULAR ADULT STEM CELLS
dc.relationCell cycle checkpoints during human oocyte meiosis in vitro
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectDAZpt_PT
dc.subjectInfertilept_PT
dc.subjectPhylogenypt_PT
dc.subjectY chromosomept_PT
dc.subjectRegulation of testis functionpt_PT
dc.subject.pt_PT
dc.subjectFaculdade de Ciências da Vidapt_PT
dc.titleDAZ gene copies: evidence of Y chromosome evolutionpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleCARACTERIZAÇÃO CELULAR E MOLECULAR DAS CÉLULAS ESTAMINAIS ADULTAS DO EPITÉLIO GERMINAL MASCULINO. MOLECULAR CELL BIOLOGY CHARACTERIZATION OF HUMAN MALE TESTICULAR ADULT STEM CELLS
oaire.awardTitleCell cycle checkpoints during human oocyte meiosis in vitro
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/FARH/SFRH%2FBD%2F23616%2F2005/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/POCI/POCI%2FSAU-MMO%2F60709%2F2004/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/POCI/POCI%2FSAU-MMO%2F60555%2F2004/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/POCI/POCI%2FSAU-MMO%2F59997%2F2004/PT
oaire.citation.endPage523pt_PT
oaire.citation.startPage519pt_PT
oaire.citation.titleMolecular Human Reproductionpt_PT
oaire.citation.volume12(8)pt_PT
oaire.fundingStreamFARH
oaire.fundingStreamPOCI
oaire.fundingStreamPOCI
oaire.fundingStreamPOCI
person.familyNameGonçalves
person.familyNameda Silva Rosa
person.familyNameBrehm
person.givenNameRita
person.givenNamePatrícia Alexandra
person.givenNameAntonio
person.identifier.ciencia-id8F1B-4B72-4E80
person.identifier.ciencia-idF01B-3B5B-2269
person.identifier.ciencia-id3613-8D1F-0EDF
person.identifier.orcid0000-0002-5306-2032
person.identifier.orcid0000-0002-1827-6828
person.identifier.orcid0000-0003-3168-5340
person.identifier.scopus-author-idAuthor ID 7006085833
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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