Article
Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.
Nature metabolism - 1 Dec 2022
Kempf Elena, Landgraf Kathrin, Stein Robert, Hanschkow Martha, Hilbert Anja, Abou Jamra Rami, Boczki Paula, Herberth Gunda, Kühnapfel Andreas, Tseng Yu-Hua, Stäubert Claudia, Schöneberg Torsten, Kühnen Peter, Rayner N William, Zeggini Eleftheria, Kiess Wieland, Blüher Matthias, Körner Antje
Abstract excerpt
Here we report a heterozygous tandem duplication at the ASIP (agouti signaling protein) gene locus causing ubiquitous, ectopic ASIP expression in a female patient with extreme childhood obesity. The mutation places ASIP under control of the ubiquitously active itchy E3 ubiquitin protein ligase promoter, driving the generation of ASIP in patient-derived native and induced pluripotent stem cells for all germ layers...
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