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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Primate-specific ZNF808 is essential for pancreatic development in humans
Nature Genetics, Volume 55, No. 12, Year 2023
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Description
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. © 2023, The Author(s).
Authors & Co-Authors
de Franco, Elisa
United Kingdom, Exeter
University of Exeter
Owens, Nick D.L.
United Kingdom, Exeter
University of Exeter
Wakeling, Matthew Neil
United Kingdom, Exeter
University of Exeter
Caswell, Richard C.
United Kingdom, Exeter
University of Exeter
Johnson, Matthew B.
United Kingdom, Exeter
University of Exeter
Ellard, Sian
United Kingdom, Exeter
University of Exeter
Wright, Caroline F.
United Kingdom, Exeter
University of Exeter
Maddirevula, Sateesh
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Alkuraya., Fowzan S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
Alfaisal University
Laimon, Wafaa
Egypt, Mansoura
Mansoura University Children's Hospital
Hassan, Samar Sabir
Sudan, Khartoum
Gaafar Ibn Auf Pediatric Tertiary Hospital
Abdullah, Mohamed Ahmed
Sudan, Khartoum
Khartoum University
Wakeling, Emma L.
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Nathwani, Nisha
United Kingdom, Bedford
Bedfordshire Hospitals Nhs Foundation Trust
Elbarbary, Nancy Samir
Egypt, Cairo
Ain Shams University
Osman, Amani
United Kingdom, London
Imperial College London
AlKandari, Hessa
Kuwait, Dasman
Dasman Diabetes Institute
Kuwait, Safat
Farwania Hospital
Habeb, Abdelhadi M.
Saudi Arabia, Madinah
Prince Mohammed Bin Abdulaziz Hospital
Al-Agha, Abdulmoein Eid
Saudi Arabia, Jeddah
King Abdulaziz University
Shagrani, Mohammad Ali
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
Alfaisal University
Flanagan, Sarah E.
United Kingdom, Exeter
University of Exeter
Otonkoski, Timo
Finland, Helsinki
Helsingin Yliopisto
Statistics
Citations: 10
Authors: 22
Affiliations: 24
Identifiers
Doi:
10.1038/s41588-023-01565-x
ISSN:
10614036
Research Areas
Genetics And Genomics