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Loss-of-function mutations in ADCY3 cause monogenic severe obesity

dc.rights.licenseopenen_US
dc.contributor.authorSAEED, S.
dc.contributor.authorBONNEFOND, A.
dc.contributor.authorTAMANINI, F.
dc.contributor.authorMIRZA, M. U.
dc.contributor.authorMANZOOR, J.
dc.contributor.authorJANJUA, Q. M.
dc.contributor.authorDIN, S. M.
dc.contributor.authorGAITAN, Julien
dc.contributor.authorMILOCHAU, A.
dc.contributor.authorDURAND, E.
dc.contributor.authorVAILLANT, E.
dc.contributor.authorHASEEB, A.
dc.contributor.authorDE GRAEVE, F.
dc.contributor.authorRABEARIVELO, I.
dc.contributor.authorSAND, O.
dc.contributor.authorQUENIAT, G.
dc.contributor.authorBOUTRY, R.
dc.contributor.authorSCHOTT, D. A.
dc.contributor.authorAYESHA, H.
dc.contributor.authorALI, M.
dc.contributor.authorKHAN, W. I.
dc.contributor.authorBUTT, T. A.
dc.contributor.authorRINNE, T.
dc.contributor.authorSTUMPEL, C.
dc.contributor.authorABDERRAHMANI, A.
dc.contributor.authorLANG, J.
dc.contributor.authorARSLAN, M.
dc.contributor.authorFROGUEL, P.
dc.date.accessioned2020-03-25T14:57:14Z
dc.date.available2020-03-25T14:57:14Z
dc.date.issued2018
dc.identifier.issn1061-4036en_US
dc.identifier.otherhttps://www.nature.com/articles/s41588-017-0023-6#Sec27en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/3937
dc.description.abstractEnStudy of monogenic forms of obesity has demonstrated the pivotal role of the central leptin-melanocortin pathway in controlling energy balance, appetite and body weight (1) . The majority of loss-of-function mutations (mostly recessive or co-dominant) have been identified in genes that are directly involved in leptin-melanocortin signaling. These genes, however, only explain obesity in <5% of cases, predominantly from outbred populations (2) . We previously showed that, in a consanguineous population in Pakistan, recessive mutations in known obesity-related genes explain ~30% of cases with severe obesity(3-5). These data suggested that new monogenic forms of obesity could also be identified in this population. Here we identify and functionally characterize homozygous mutations in the ADCY3 gene encoding adenylate cyclase 3 in children with severe obesity from consanguineous Pakistani families, as well as compound heterozygous mutations in a severely obese child of European-American descent. These findings highlight ADCY3 as an important mediator of energy homeostasis and an attractive pharmacological target in the treatment of obesity.
dc.language.isoENen_US
dc.subject.enClinical genetics
dc.subject.enSequencing
dc.title.enLoss-of-function mutations in ADCY3 cause monogenic severe obesity
dc.title.alternativeNature geneticsen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41588-017-0023-6en_US
dc.subject.halChimie/Matériauxen_US
bordeaux.journalNat Geneten_US
bordeaux.page175-+en_US
bordeaux.volume50en_US
bordeaux.hal.laboratoriesInstitut de Chimie & de Biologie des Membranes & des Nano-objets (CBMN) - UMR 5248
bordeaux.issue2en_US
bordeaux.institutionBordeaux INPen_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-02518949
hal.version1
hal.date.transferred2020-03-25T14:57:21Z
hal.exporttrue
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