Data associated with the article entitled: "A conserved NR5A1-responsive enhancer regulates SRY in testis-determination"

DOI

Codes, tabular data and raw data used in the publication: A conserved NR5A1-responsive enhancer regulates SRY in testis-determination (submitted to Nature Communications). These data originate from a study investigating the regulation of the Y-linked SRY gene, which plays a crucial role in initiating testis-determination in mammals. We identified a specific enhancer, bound by the steroidogenic factor-1 (SF-1)/NR5A1, necessary for appropriate SRY expression in human testis-determination. Deleting this enhancer using genome editing in an in vitro cellular model led to a significant reduction in SRY expression, highlighting the regulatory role of human NR5A1 in the switch between testis and ovary development. Our study suggests that disruptions in enhancers can mimic variants in the coding regions of SRY associated with human testis dysgenesis, providing valuable insights into enhancer activity in the context of key developmental processes.

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Identifier
DOI https://doi.org/10.57745/HSOOVU
Metadata Access https://entrepot.recherche.data.gouv.fr/oai?verb=GetRecord&metadataPrefix=oai_datacite&identifier=doi:10.57745/HSOOVU
Provenance
Creator Houzelstein, Denis ORCID logo
Publisher Recherche Data Gouv
Contributor Houzelstein, Denis; Collection administrator; Eozenou, Caroline; Lagos, Carlos F.; Elzaiat, Maëva; Gonzalez, Inma; Laville, Vincent; Schlick, Laurène; Wankanit, Somboon; Madon, Prochi; Kirtane, Jyotsna; Athalye, Arundhati; Buonocore, Federica; Bigou, Stéphanie; Conway, Gerard S.; Bohl, Delphine; McElreavey, Kenneth; Achermann, John C.; Bashamboo, Anu; Institut Pasteur; Centre national de la recherche scientifique; Entrepôt-Catalogue Recherche Data Gouv
Publication Year 2024
Funding Reference Agence Nationale de la Recherche ANR-10-LABX-73 REVIVE ; Agence Nationale de la Recherche ANR-17-CE14-0038-01 ; Agence Nationale de la Recherche ANR-19-CE14-0022 ; Agence Nationale de la Recherche ANR-19-CE14-0012 ; Agence Nationale de la Recherche ANR-10- IAIHU-06 ; Agence Nationale de la Recherche ANR11-INBS-0011 ; Powered@NLHPC: This research was partially supported by the supercomputing infrastructure of the NLHPC CCSS210001 ; ANID-BASAL FB210008 ; Wellcome Trust 209328/Z/17/Z ; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre IS-BRC-1215-20012 ; Translational research Infrastructure for Biotherapies in Neurosciences NeurATRIS
Rights info:eu-repo/semantics/openAccess
OpenAccess true
Contact Houzelstein, Denis (Institut Pasteur, Université Paris Cité, CNRS UMR3738, Mouse Functional Genetics, F-75015 Paris, France); Collection administrator (Institut Pasteur)
Representation
Resource Type Dataset
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Version 1.0
Discipline Life Sciences; Medicine