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To whom correspondence should be addressed. E-mail: katie.rudd@emory.edu.

Edited by Stephen T. Warren, Emory University School of Medicine, Atlanta, GA, and approved July 29, 2013 (received for review March 29, 2013)

Author contributions: I.S.G., K.E.H., and M.K.R. designed research; I.S.G., K.E.H., R.C., G.W., A.C.O., and S.D. performed research; I.S.G., K.E.H., L.M.C., R.T.B., G.W., A.C.O., K.N.C., J.G.M., M.R.H., K.H.K., B.A., A.C., A.E.W., E.C.T., J.W.E., J.A.R., B.C.B., L.G.S., L.A.D., U.R.C.D.S.G., and M.K.R. analyzed data; I.S.G. and M.K.R. wrote the paper; and L.M.C., K.H.K., B.A., A.C., A.E.W., E.C.T., J.W.E., J.A.R., B.C.B., L.G.S., L.A.D., U.R.C.D.S.G., and M.K.R. recruited and clinically assessed subjects.

BCB and LGS Present address: Paw Print Genetics, Genetic Veterinary Sciences, Inc., Spokane, WA 99202.

LAD Present address: Division of Genetics, Levine Children's Hospital at Carolinas Medical Center, Charlotte, NC 28232.

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Research Funding:

This project was supported by National Institutes of Mental Health Grant 5R01MH92902 (to M.K.R.) and the Emory Discovery Fund.

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

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Journal Title:

Proceedings of the National Academy of Sciences

Volume:

Volume 110, Number 37

Publisher:

, Pages 14990-14994

Type of Work:

Article | Post-print: After Peer Review

Abstract:

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.

Copyright information:

Beginning with articles submitted in Volume 106 (2009) the author(s) retains copyright to individual articles, and the National Academy of Sciences of the United States of America retains an exclusive license to publish these articles and holds copyright to the collective work.

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