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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.