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IBCS Seminar - Elisa De Franco and Nick Owens

Title: Primate-specific ZNF808 is essential for pancreatic development in humans - insights into human pancreas development from genetics

We are happy to welcome Elisa De Franco and Nick Owens who will present their research at the first IBCS seminar of 2022.

Event details


Identifying genes linked to extreme phenotypes in humans has the potential to highlight new biological processes fundamental for human development. 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 (KZFPs) family, a large and rapidly evolving group of epigenetic silencers that target transposable elements. We show that loss of ZNF808 in vitro results in aberrant activation of many transposable elements it normally represses during early pancreas development. This results in an induction of genes associated with liver endoderm suggesting an inappropriate specification of cell fate between pancreas and liver. We show that ZNF808 and its transposable element targets play a critical role in cell fate specification during human pancreatic development. This is the first report of loss of a primate-specific gene causing a congenital developmental disease and highlights the essential role of ZNF808 for pancreatic development in humans.

Please find Profiles of our speakers:

Elisa De-Franco

Nick Owens