Ontology highlight
ABSTRACT:
SUBMITTER: Lee B
PROVIDER: S-EPMC4738366 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Lee Bonggi B Koo Jashin J Yun Jun Joo J Gavrilova Oksana O Lee Yongjun Y Seo Arnold Y AY Taylor-Douglas Dezmond C DC Adler-Wailes Diane C DC Chen Faye F Gardner Ryan R Koutzoumis Dimitri D Sherafat Kazemzadeh Roya R Roberson Robin B RB Yanovski Jack A JA
Nature communications 20160128
We previously reported children homozygous for two MC3R sequence variants (C17A+G241A) have greater fat mass than controls. Here we show, using homozygous knock-in mouse models in which we replace murine Mc3r with wild-type human (MC3R(hWT/hWT)) and double-mutant (C17A+G241A) human (MC3R(hDM/hDM)) MC3R, that MC3R(hDM/hDM) have greater weight and fat mass, increased energy intake and feeding efficiency, but reduced length and fat-free mass compared with MC3R(hWT/hWT). MC3R(hDM/hDM) mice do not ha ...[more]