Identification and Functional Characterization of Novel Mutations in the Melanocortin-4 Receptor
نویسندگان
چکیده
منابع مشابه
Functional characterization and pharmacological rescue of melanocortin-4 receptor mutations identified from obese patients
As the most common monogenic form of human obesity, about 130 naturally occurring melanocortin-4 receptor (MC4R) gene mutations have been identified. In this study, we reported detailed functional characterization of 10 novel human MC4R (hMC4R) mutants including R7C, C84R, S127L, S136F, W174C, A219V, P230L, F261S, I317V and L325F. Flow cytometry experiments showed that six mutants, including R7...
متن کاملIdentification and functional characterization of three novel human melanocortin-4 receptor gene variants in an obese Chinese population.
OBJECTIVE Mutations in the melanocortin-4 receptor gene (MC4R) are the most common monogenic form of human obesity. However, the contribution of MC4R mutations to obesity in Chinese has not been investigated. We studied the frequency of MC4R mutations in an obese southern Chinese population and the functional consequences of the novel variants identified. METHODS We screened for MC4R mutation...
متن کاملFunctional characterization of melanocortin-4 receptor mutations associated with childhood obesity.
The melanocortin-4 receptor (MC4R) is a member of the rhodopsin-like G protein-coupled receptor family. The binding of alpha-MSH to the MC4R leads to increased cAMP production. Recent pharmacological and genetic studies have provided compelling evidence that MC4R is an important regulator of food intake and energy homeostasis. Allelic variants of MC4R were reported in some children with early-o...
متن کاملFunctional characterization of novel melanocortin-3 receptor mutations identified from obese subjects.
It is controversial whether mutation in the melancortin-3 receptor (MC3R) gene is a cause for monogenic obesity in humans. Three novel mutations in the MC3R, A293T, I335S, and X361S, were identified from morbidly obese subjects. We investigated whether these mutations caused loss-of-function and the molecular defects if any. Ligand binding, signaling, and cell surface expression of the mutant M...
متن کاملMolecular and Clinical Characterization of 7 Iranian Patients with Severe Congenital Factor V Deficiency: Identification of 4 Novel Mutations
Background and Aims: Congenital factor V (FV) deficiency is a rare bleeding disorder with 1 in 1000000 persons in the general population. Individuals with FV activity <1% and very low FV antigen levels are characterized as severe FV deficient patients. Little data is available about the molecular basis of this bleeding disorder in Iran. Materials and Methods: We analyzed 7 unrelated Iranian FV...
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ژورنال
عنوان ژورنال: Obesity Facts
سال: 2010
ISSN: 1662-4033,1662-4025
DOI: 10.1159/000321565