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

Bibliographic Details
Main Author: Brattig-Correia, Rion
Publication Date: 2024
Other Authors: Almeida, Joana M., Wyrwoll, Margot Julia, Julca, Irene, Sobral, Daniel, Misra, Chandra Shekhar, Di Persio, Sara, Guilgur, Leonardo Gastón, Schuppe, Hans Christian, Silva, Neide, Prudêncio, Pedro, Nóvoa, Ana, Leocádio, Ana S., Bom, Joana, Laurentino, Sandra, Mallo, Moises, Kliesch, Sabine, Mutwil, Marek, Rocha, Luis M., Tüttelmann, Frank, Becker, Jörg D., Navarro-Costa, Paulo
Format: Article
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://hdl.handle.net/10362/179703
Summary: National 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.
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spelling The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesisD. melanogasterevolutionary biologygene expressiongerm cellshumaninfertilitymedicinemeiosismousespermatogenesisNeuroscience(all)Biochemistry, Genetics and Molecular Biology(all)Immunology and Microbiology(all)SDG 3 - Good Health and Well-beingNational 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.Male 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.UCIBIO - Applied Molecular Biosciences UnitDCV - Departamento de Ciências da VidaFaculdade de Ciências e Tecnologia (FCT)Instituto de Tecnologia Química e Biológica António Xavier (ITQB)RUNBrattig-Correia, RionAlmeida, Joana M.Wyrwoll, Margot JuliaJulca, IreneSobral, DanielMisra, Chandra ShekharDi Persio, SaraGuilgur, Leonardo GastónSchuppe, Hans ChristianSilva, NeidePrudêncio, PedroNóvoa, AnaLeocádio, Ana S.Bom, JoanaLaurentino, SandraMallo, MoisesKliesch, SabineMutwil, MarekRocha, Luis M.Tüttelmann, FrankBecker, Jörg D.Navarro-Costa, Paulo2025-02-24T22:42:47Z2024-10-102024-10-10T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/179703eng2050-084XPURE: 107369628https://doi.org/10.7554/eLife.95774info:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-03-03T01:38:34Zoai:run.unl.pt:10362/179703Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-29T00:06:57.620416Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesis
title The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesis
spellingShingle The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesis
Brattig-Correia, Rion
D. melanogaster
evolutionary biology
gene expression
germ cells
human
infertility
medicine
meiosis
mouse
spermatogenesis
Neuroscience(all)
Biochemistry, Genetics and Molecular Biology(all)
Immunology and Microbiology(all)
SDG 3 - Good Health and Well-being
title_short The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesis
title_full The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesis
title_fullStr The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesis
title_full_unstemmed The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesis
title_sort The conserved genetic program of male germ cells uncovers ancient regulators of human spermatogenesis
author Brattig-Correia, Rion
author_facet Brattig-Correia, Rion
Almeida, Joana M.
Wyrwoll, Margot Julia
Julca, Irene
Sobral, Daniel
Misra, Chandra Shekhar
Di Persio, Sara
Guilgur, Leonardo Gastón
Schuppe, Hans Christian
Silva, Neide
Prudêncio, Pedro
Nóvoa, Ana
Leocádio, Ana S.
Bom, Joana
Laurentino, Sandra
Mallo, Moises
Kliesch, Sabine
Mutwil, Marek
Rocha, Luis M.
Tüttelmann, Frank
Becker, Jörg D.
Navarro-Costa, Paulo
author_role author
author2 Almeida, Joana M.
Wyrwoll, Margot Julia
Julca, Irene
Sobral, Daniel
Misra, Chandra Shekhar
Di Persio, Sara
Guilgur, Leonardo Gastón
Schuppe, Hans Christian
Silva, Neide
Prudêncio, Pedro
Nóvoa, Ana
Leocádio, Ana S.
Bom, Joana
Laurentino, Sandra
Mallo, Moises
Kliesch, Sabine
Mutwil, Marek
Rocha, Luis M.
Tüttelmann, Frank
Becker, Jörg D.
Navarro-Costa, Paulo
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv UCIBIO - Applied Molecular Biosciences Unit
DCV - Departamento de Ciências da Vida
Faculdade de Ciências e Tecnologia (FCT)
Instituto de Tecnologia Química e Biológica António Xavier (ITQB)
RUN
dc.contributor.author.fl_str_mv Brattig-Correia, Rion
Almeida, Joana M.
Wyrwoll, Margot Julia
Julca, Irene
Sobral, Daniel
Misra, Chandra Shekhar
Di Persio, Sara
Guilgur, Leonardo Gastón
Schuppe, Hans Christian
Silva, Neide
Prudêncio, Pedro
Nóvoa, Ana
Leocádio, Ana S.
Bom, Joana
Laurentino, Sandra
Mallo, Moises
Kliesch, Sabine
Mutwil, Marek
Rocha, Luis M.
Tüttelmann, Frank
Becker, Jörg D.
Navarro-Costa, Paulo
dc.subject.por.fl_str_mv D. melanogaster
evolutionary biology
gene expression
germ cells
human
infertility
medicine
meiosis
mouse
spermatogenesis
Neuroscience(all)
Biochemistry, Genetics and Molecular Biology(all)
Immunology and Microbiology(all)
SDG 3 - Good Health and Well-being
topic D. melanogaster
evolutionary biology
gene expression
germ cells
human
infertility
medicine
meiosis
mouse
spermatogenesis
Neuroscience(all)
Biochemistry, Genetics and Molecular Biology(all)
Immunology and Microbiology(all)
SDG 3 - Good Health and Well-being
description National 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.
publishDate 2024
dc.date.none.fl_str_mv 2024-10-10
2024-10-10T00:00:00Z
2025-02-24T22:42:47Z
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/10362/179703
url http://hdl.handle.net/10362/179703
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2050-084X
PURE: 107369628
https://doi.org/10.7554/eLife.95774
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:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
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collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
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