[HTML][HTML] Functional characterization of mutations in melanocortin-4 receptor associated with human obesity
G Ho, RG MacKenzie - Journal of Biological Chemistry, 1999 - ASBMB
Melanocortin-4 receptor (MC4R) is a G protein-coupled receptor implicated in the regulation
of body weight. Genetic studies in humans have identified two frameshift mutations of MC4R
associated with a dominantly inherited form of obesity. We have generated and expressed
the corresponding MC4R mutants in 293T cells and found that cells transfected with the
truncation mutants failed to exhibit agonist binding or responsiveness despite retention of
structural motifs potentially sufficient for binding and signaling. Immunofluorescence studies …
of body weight. Genetic studies in humans have identified two frameshift mutations of MC4R
associated with a dominantly inherited form of obesity. We have generated and expressed
the corresponding MC4R mutants in 293T cells and found that cells transfected with the
truncation mutants failed to exhibit agonist binding or responsiveness despite retention of
structural motifs potentially sufficient for binding and signaling. Immunofluorescence studies …