B Y H Lam, A Williamson, S Finer, F R Day, J A Tadross, A Gonçalves Soares, K Wade, P Sweeney, M N Bedenbaugh, D T Porter, A Melvin, K L J Ellacott, R N Lippert, S Buller, J Rosmaninho-Salgado, G K C Dowsett, K E Ridley, Z Xu, I Cimino, D Rimmington, K Rainbow, K Duckett, S Holmqvist, A Khan, X Dai, E G Bochukova, R C Trembath, H C Martin, A P Coll, D H Rowitch, N J Wareham, D A van Heel, N Timpson, R B Simerly, K K Ong, R D Cone, C Langenberg, J R B Perry, G S Yeo, S O'Rahilly
The state of somatic energy stores in metazoans is communicated to the brain, which regulates key aspects of behaviour, growth, nutrient partitioning and development1 . The central melanocortin system acts through melanocortin 4 receptor (MC4R) to control appetite, food intake and energy expenditure2 . Here we present evidence that MC3R regulates the timing of sexual maturation, the rate of linear growth and the accrual of lean mass, which are all energy-sensitive processes. We found that humans who carry loss-of-function mutations in MC3R, including a rare homozygote individual, have a later onset of puberty...
November 3, 2021: Nature