Article
A ONECUT1 regulatory, non-coding region in pancreatic development and diabetes.
Cell reports - 26 Nov 2024
Merz Sarah, Senée Valérie, Philippi Anne, Oswald Franz, Shaigan Mina, Führer Marita, Drewes Cosima, Allgöwer Chantal, Öllinger Rupert, Heni Martin, Boland Anne, Deleuze Jean-François, Birkhofer Franziska, Gusmao Eduardo G, Wagner Martin, Hohwieler Meike, Breunig Markus, Rad Roland, Siebert Reiner, Messerer David Alexander Christian, Costa Ivan G, Alvarez Fernando, Julier Cécile, Kleger Alexander, Heller Sandra
Abstract excerpt
In a patient with permanent neonatal syndromic diabetes clinically similar to cases with ONECUT1 biallelic mutations, we identified a disease-causing deletion located upstream of ONECUT1. Through genetic, genomic, and functional studies, we identified a crucial regulatory region acting as an enhancer of ONECUT1 specifically during pancreatic development. This enhancer region contains a low-frequency variant...
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