Nirav Florian Chhabra, Oana Veronica Amarie, Moya Wu, Anna-Lena Amend, Marina Rubey, Daniel Gradinger, Martin Irmler, Johannes Beckers, Birgit Rathkolb, Eckhard Wolf, Annette Feuchtinger, Peter Huypens, Raffaele Teperino, Jan Rozman, Gerhard K H Przemeck, Martin Hrabě de Angelis
The transcription factor PAX6 is involved in the development of the eye and pancreatic islets, besides being associated with sleep-wake cycles. Here, we investigated a point mutation in the RED subdomain of PAX6, previously described in a human patient, to present a comprehensive study of a homozygous Pax6 mutation in the context of adult mammalian metabolism and circadian rhythm. Pax6Leca2 mice lack appropriate retinal structures for light perception and do not display normal daily rhythmic changes in energy metabolism...
October 30, 2020: Communications Biology