Article
Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.
Endocrinology - 1 Jan 2009
Tan Karen, Pogozheva Irina D, Yeo Giles S H, Hadaschik Dirk, Keogh Julia M, Haskell-Leuvano Carrie, O'Rahilly Stephen, Mosberg Henry I, Farooqi I Sadaf
Abstract excerpt
Mutations in the melanocortin 4 receptor (MC4R) gene are the most common known cause of monogenic human obesity. The MC4R gene was sequenced in 2000 subjects with severe early-onset obesity. We detected seven different nonsense and 19 nonsynonymous mutations in a total of 94 probands, some of which have been reported previously by others. We functionally characterized the 11 novel obesity associated missense...
Topics
- Age of Onset
- Amino Acid Sequence
- Amino Acid Substitution
- Animals
- Cyclic AMP
- Gene Expression Regulation
- Humans
- Mice
- Models, Molecular
- Molecular Sequence Data