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Primate-specific ZNF808 is essential for pancreatic development in humans

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dc.contributor.author Franco, Elisa de
dc.contributor.author Balboa, Diego
dc.contributor.author Imbeault, Michael
dc.date.accessioned 2024-02-09T07:50:03Z
dc.date.available 2024-02-09T07:50:03Z
dc.date.issued 2023
dc.identifier.citation Franco E de, Owens NDL, Montaser H, Wakeling MN, Saarimäki-Vire J, Triantou A et al. Primate-specific ZNF808 is essential for pancreatic development in humans. Nat Genet. 2023 Dec;55(12):2075-81. DOI: 10.1038/s41588-023-01565-x
dc.identifier.issn 1061-4036
dc.identifier.uri http://hdl.handle.net/10230/59047
dc.description.abstract Identifying genes linked to extreme phenotypes in humans has the potential to highlight biological processes not shared with all other mammals. Here, we report the identification of homozygous loss-of-function variants in the primate-specific gene ZNF808 as a cause of pancreatic agenesis. ZNF808 is a member of the KRAB zinc finger protein family, a large and rapidly evolving group of epigenetic silencers which target transposable elements. We show that loss of ZNF808 in vitro results in aberrant activation of regulatory potential contained in the primate-specific transposable elements it represses during early pancreas development. This leads to inappropriate specification of cell fate with induction of genes associated with liver identity. Our results highlight the essential role of ZNF808 in pancreatic development in humans and the contribution of primate-specific regions of the human genome to congenital developmental disease.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Nature Research
dc.relation.ispartof Nat Genet. 2023 Dec;55(12):2075-81
dc.rights © The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.title Primate-specific ZNF808 is essential for pancreatic development in humans
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1038/s41588-023-01565-x
dc.subject.keyword Developmental biology
dc.subject.keyword Diabetes
dc.subject.keyword Gene regulation
dc.subject.keyword Sequencing
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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