Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity

Canadian Journal of Physiology and Pharmacology
William T GibsonStephen O'Rahilly

Abstract

Deletion of the serotonin receptor 5HT2c in mice results in increased food intake and obesity. We screened 95 individuals with severe early-onset obesity for mutations in the coding sequence of this gene. We found a novel missense variant c.1255A > G (Thr419Ala) in a single Caucasian subject that was not found in 192 Caucasian control subjects. In transiently-transfected COS cells, the Thr419Ala variant was indistinguishable from the wild-type receptor in its ability to generate inositol phosphate, although differences in coupling to other pathways were not excluded. Three previously unreported silent variants: IVS3 + 30G > A, IVS3 + 80C > G and IVS4 - 31A > G were found with prevalences of 11.5%, 0.5% and 17.9%, respectively. In conclusion, mutations in 5HT2c are unlikely to be a common cause of severe early-onset human obesity. The identification of several novel polymorphisms at this locus may aid future genetic epidemiological studies.

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Citations

Oct 28, 2010·Diabetes, Obesity & Metabolism·R I G HoltC J Bailey
Jan 19, 2008·Endocrinology·Farid F Chehab
Aug 25, 2009·Clinics in Chest Medicine·George A Bray
Oct 30, 2007·The Medical Clinics of North America·George A Bray
May 15, 2007·Gastroenterology·George A Bray, Donna H Ryan
Jul 1, 2011·Human Psychopharmacology·Francesco PivaGiovanni Principato
Aug 23, 2011·The Medical Clinics of North America·George A Bray
Jun 2, 2007·Pharmacological Reviews·George A Bray, Frank L Greenway

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