Publications by authors named "Shu-Bing Cai"
Objective: To investigate how F261S mutation identified from Chinese obese patients affects the function of melanocortin 4 receptor (MC4R) and to analyze the obesity-related phenotypes in subjects carrying the F261S mutation.
Methods: F261S mutant of MC4R was generated by site-directed mutagenesis. Plasmids encoding wild-type or F261S mutant of MC4R were transfected into HEK293 and COS-7 cells to examine their functional characteristics.
[Cloning and functional analysis of melanocortin 4 receptor mutation gene F261S].
Zhonghua Yi Xue Za Zhi
February 2005
Article Synopsis
- The study investigates how a specific mutation in the melanocortin 4 receptor (MC4R), called F261S, affects its function.
- Researchers used human embryonic HEK293 cells to compare the wild-type (normal) MC4R with the F261S mutated version by measuring their responses to alpha-MSH, a signaling molecule.
- Results showed that cells with the F261S mutation had significantly lower intracellular cAMP levels in response to alpha-MSH, indicating that this mutation may disrupt normal MC4R signaling and potentially contribute to obesity in individuals with this genetic variation.