A5093272939- Genetics and Neurodevelopmental Disorders
- Pancreatic function and diabetes
- Epigenetics and DNA Methylation
- Congenital heart defects research
University of Cambridge
2021-2023
Identifying genes linked to extreme phenotypes in humans has the potential highlight biological processes not shared with all other mammals. Here, we report identification of homozygous loss-of-function variants primate-specific gene ZNF808 as a cause pancreatic agenesis. is member KRAB zinc finger protein family, large and rapidly evolving group epigenetic silencers which target transposable elements. We show that loss vitro results aberrant activation regulatory contained elements it...
Summary Identifying genes linked to extreme phenotypes in humans has the potential highlight new biological processes fundamental for human development. Here we report identification of homozygous loss function variants primate-specific gene ZNF808 as a cause pancreatic agenesis. is member KRAB zinc finger protein (KZFPs) family, large and rapidly evolving group epigenetic silencers that target transposable elements. We show vitro results aberrant activation many elements it normally...