Mouse model implicates GNB3 duplication in a childhood obesity syndrome

Proc Natl Acad Sci U S A. 2013 Sep 10;110(37):14990-4. doi: 10.1073/pnas.1305999110. Epub 2013 Aug 26.

Abstract

Obesity is a highly heritable condition and a risk factor for other diseases, including type 2 diabetes, cardiovascular disease, hypertension, and cancer. Recently, genomic copy number variation (CNV) has been implicated in cases of early onset obesity that may be comorbid with intellectual disability. Here, we describe a recurrent CNV that causes a syndrome associated with intellectual disability, seizures, macrocephaly, and obesity. This unbalanced chromosome translocation leads to duplication of over 100 genes on chromosome 12, including the obesity candidate gene G protein β3 (GNB3). We generated a transgenic mouse model that carries an extra copy of GNB3, weighs significantly more than its wild-type littermates, and has excess intraabdominal fat accumulation. GNB3 is highly expressed in the brain, consistent with G-protein signaling involved in satiety and/or metabolism. These functional data connect GNB3 duplication and overexpression to elevated body mass index and provide evidence for a genetic syndrome caused by a recurrent CNV.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Animals
  • Brain / metabolism
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 12 / genetics
  • Chromosomes, Human, Pair 8 / genetics
  • Disease Models, Animal
  • Female
  • GTP-Binding Proteins / metabolism
  • Gene Duplication*
  • Heterotrimeric GTP-Binding Proteins / genetics*
  • Heterotrimeric GTP-Binding Proteins / metabolism
  • Humans
  • Male
  • Mice
  • Mice, Transgenic
  • Pediatric Obesity / genetics*
  • Pediatric Obesity / metabolism
  • Pediatric Obesity / pathology
  • Pedigree
  • Syndrome
  • Translocation, Genetic

Substances

  • G-protein beta3 subunit
  • GTP-Binding Proteins
  • Heterotrimeric GTP-Binding Proteins

Supplementary concepts

  • Chromosome 8p deletion syndrome (partial)