Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity

• Published in: Human molecular genetics Vol. 20; no. 2; pp. 392 - 399
• Main Authors: Mencarelli, M., Dubern, B., Alili, R., Maestrini, S., Benajiba, L., Tagliaferri, M., Galan, P., Rinaldi, M., Simon, C., Tounian, P., Hercberg, S., Liuzzi, A., Di Blasio, A. M., Clement, K.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 15.01.2011; Oxford University Press (OUP)
• Subjects: Adolescent; Adult; Biological and medical sciences; Body Weight - genetics; Child; European Continental Ancestry Group; Female; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; HEK293 Cells; Humans; Life Sciences; Male; Medical sciences; Metabolic diseases; Middle Aged; Molecular and cellular biology; Mutation; Obesity; Obesity - genetics; Receptor, Melanocortin, Type 3 - genetics; Receptor, Melanocortin, Type 3 - metabolism; Receptor, Melanocortin, Type 4 - genetics; Young Adult; Human; Obesity; Nutrition disorder; Genetics; Mutation; In vitro; Nutritional status; Melanocortin receptor; MC4R; GENE VARIANTS; POLYMORPHISMS; INTRACELLULAR RETENTION; BODY-MASS INDEX; EARLY-ONSET OBESITY; FRAMESHIFT MUTATION; PREVALENCE; FAT MASS; CHILDREN

In contrast to the melanocortin 4 receptor, the possible role of the melanocortin 3 receptor (MC3R) in regulating body weight is still debated. We have previously reported three mutations in the MC3R gene showing association with human obesity, but these results were not confirmed in a study of seve...