Mouse model represents GNB3 duplication related to childhood obesity syndrome.
- Models obesity syndrome caused by recurrent chromosomal translocation
- Investigates functional significance of GNB3-related pathways including BMI disorders
Obesity can be a heritable condition that precedes other diseases including type-2 diabetes, cardiovascular disease, hypertension, or cancer. Recent research has shown that genomic copy number variation (CNV) leads to a syndrome associated with intellectual disability, seizures, macrocephaly, and obesity. In this recurrent unbalanced translocation, the obesity candidate gene G protein Î²3 (GNB3) has been found to be one of over 100 genes duplicated. Emory inventors have generated a transgenic mouse model that carries an extra copy of GNB3. The transgenic mouse weighs significantly more than its wild-type littermates and has excess intra-abdominal fat accumulation. This transgenic strain models a feature of a human syndrome caused by the unbalanced chromosome translocation and can be used to represent humans with similar duplications of GNB3.
Publication: IS Goldlust et al., (2013). PNAS. 110 (37): 14990-14994