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The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesis

2024-10-10Artigo científico Acesso aberto
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dc.contributor.authorBrattig-Correia, Rion
dc.contributor.authorAlmeida, Joana M.
dc.contributor.authorWyrwoll, Margot Julia
dc.contributor.authorJulca, Irene
dc.contributor.authorSobral, Daniel
dc.contributor.authorMisra, Chandra Shekhar
dc.contributor.authorDi Persio, Sara
dc.contributor.authorGuilgur, Leonardo Gastón
dc.contributor.authorSchuppe, Hans Christian
dc.contributor.authorSilva, Neide
dc.contributor.authorPrudêncio, Pedro
dc.contributor.authorNóvoa, Ana
dc.contributor.authorLeocádio, Ana S.
dc.contributor.authorBom, Joana
dc.contributor.authorLaurentino, Sandra
dc.contributor.authorMallo, Moises
dc.contributor.authorKliesch, Sabine
dc.contributor.authorMutwil, Marek
dc.contributor.authorRocha, Luis M.
dc.contributor.authorTüttelmann, Frank
dc.contributor.authorBecker, Jörg D.
dc.contributor.authorNavarro-Costa, Paulo
dc.contributor.institutionUCIBIO - Applied Molecular Biosciences Unit
dc.contributor.institutionDCV - Departamento de Ciências da Vida
dc.contributor.institutionFaculdade de Ciências e Tecnologia (FCT)
dc.contributor.institutionInstituto de Tecnologia Química e Biológica António Xavier (ITQB)
dc.contributor.pbleLife Sciences Publications
dc.date.accessioned2025-02-24T22:42:47Z
dc.date.available2025-02-24T22:42:47Z
dc.date.issued2024-10-10
dc.descriptionNational Institutes of Health (1R01LM012832) National Science Foundation (Research Traineeship grant 1735095). Deutsche Forschungsgemeinschaft (329621271). Ministry of Education, Singapore (MOE2018-T2-2-053). Publisher Copyright: © 2024, Brattig-Correia, Almeida, Wyrwoll et al.
dc.description.abstractMale germ cells share a common origin across animal species, therefore they likely retain a conserved genetic program that defines their cellular identity. However, the unique evolutionary dynamics of male germ cells coupled with their widespread leaky transcription pose significant obstacles to the identification of the core spermatogenic program. Through network analysis of the spermatocyte transcriptome of vertebrate and invertebrate species, we describe the conserved evolutionary origin of metazoan male germ cells at the molecular level. We estimate the average functional requirement of a metazoan male germ cell to correspond to the expression of approximately 10,000 protein-coding genes, a third of which defines a genetic scaffold of deeply conserved genes that has been retained throughout evolution. Such scaffold contains a set of 79 functional associations between 104 gene expression regulators that represent a core component of the conserved genetic program of metazoan spermatogenesis. By genetically interfering with the acquisition and maintenance of male germ cell identity, we uncover 161 previously unknown spermatogenesis genes and three new potential genetic causes of human infertility. These findings emphasize the importance of evolutionary history on human reproductive disease and establish a cross-species analytical pipeline that can be repurposed to other cell types and pathologies.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent6142881
dc.identifier.doi10.7554/eLife.95774
dc.identifier.issn2050-084X
dc.identifier.otherPURE: 107369628
dc.identifier.otherPURE UUID: d9cb8954-462e-455f-9608-e46cfc0d0e86
dc.identifier.otherScopus: 85206041311
dc.identifier.otherPubMed: 39388236
dc.identifier.otherWOS: 001337089700001
dc.identifier.urihttp://hdl.handle.net/10362/179703
dc.identifier.urlhttps://www.scopus.com/pages/publications/85206041311
dc.language.isoeng
dc.peerreviewedyes
dc.relationinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FMEC-AND%2F30221%2F2017/PT
dc.relationThe sperm cell core genetic program - a combined clinical and basic research approach to the diagnosis of male infertility.
dc.relationA new mechanism of nuclear compartmentalization in meiosis: from basic to clinical research in male infertility
dc.relationNot Available
dc.relationNovel insights into gamete fusion and young genes through single cell omics of male gametes
dc.relationinfo:eu-repo/grantAgreement/FCT//PD%2FBD%2F114362%2F2016/PT
dc.subjectD. melanogaster
dc.subjectevolutionary biology
dc.subjectgene expression
dc.subjectgerm cells
dc.subjecthuman
dc.subjectinfertility
dc.subjectmedicine
dc.subjectmeiosis
dc.subjectmouse
dc.subjectspermatogenesis
dc.subjectGeneral Neuroscience
dc.subjectGeneral Biochemistry,Genetics and Molecular Biology
dc.subjectGeneral Immunology and Microbiology
dc.subjectSDG 3 - Good Health and Well-being
dc.titleThe conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesisen
dc.typejournal article
degois.publication.titleeLife
degois.publication.volume13
dspace.entity.typePublication
oaire.awardNumberPTDC/MEC-AND/30221/2017
oaire.awardNumberEXPL/MEC-AND/0676/2021
oaire.awardNumberCEECIND/03345/2018/CP1564/CT0010
oaire.awardNumberPD/BD/114362/2016
oaire.awardTitleThe sperm cell core genetic program - a combined clinical and basic research approach to the diagnosis of male infertility.
oaire.awardTitleA new mechanism of nuclear compartmentalization in meiosis: from basic to clinical research in male infertility
oaire.awardTitleNot Available
oaire.awardTitleNovel insights into gamete fusion and young genes through single cell omics of male gametes
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FMEC-AND%2F30221%2F2017/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/EXPL%2FMEC-AND%2F0676%2F2021/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/CEEC IND 2018/CEECIND%2F03345%2F2018%2FCP1564%2FCT0010/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//PD%2FBD%2F114362%2F2016/PT
oaire.fundingStream3599-PPCDT
oaire.fundingStream3599-PPCDT
oaire.fundingStreamCEEC IND 2018
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.rightsopenAccess
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relation.isProjectOfPublication.latestForDiscovery455eac8b-0dd3-4418-92ac-3e720bfd3bdb

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