Citations 1
Mouse model implicates GNB3 duplication in a childhood obesity syndrome
Goldlust, Ian S. , Hermetz, Karen , Catalano, Lisa M., Barfield, Richard , Cozad, Rebecca, Wynn, Grace M., Ozdemir, Alev Cagla, Conneely, Karen N. , Mullé, Jennifer G. , Dharamrup, Shikha, Hegde, Madhuri , Kim, Katherine H. , Angle, Brad, Colley, Alison, Thorland, Erik C., Ellison, Jay W., Ballif, Blake C., Shaffer, Lisa G. , Demmer, Laurie , Group, Unique Rare Chromosome Disorder Support, Rudd, M. Katharine , Searle, Beverly A., Wynn, Sarah , Webb, Amy , Rosenfeld, Jill A. , Group, Unique Rare Chromosome Disorder Support
Proceedings of the National Academy of Sciences | August 26, 2013 | Volume: 110 | Issue: 37 | Pages: 14990-14994
Significance We describe a genomic disorder that causes obesity, intellectual disability, and seizures. Children with this syndrome carry an unbalanced chromosome translocation that results in the duplication of over 100 genes, including G protein β3 ( GNB3 ). Although GNB3 polymorphisms have been associated with obesity, hypertension, and diabetes, the mechanism of GNB3 pathogenesis is unknown. We created a transgenic mouse model that carries a duplication of GNB3 , weighs significantly more than wild-type mice, and has excess abdominal fat. GNB3 is highly expressed in the brain and may be important for signaling related to satiety and/or metabolism.