Abstract
Single Minded-1 (SIM1) is a transcription factor involved in development and function of the hypothalamic paraventricular nucleus, a site critical for the body weight–regulating function of the melanocortin-4 receptor (MC4R) pathway. Consistent with its MC4R pathway involvement, rare loss-of-function (LOF) variants in SIM1 are associated with severe early-onset obesity and hyperphagia, hallmark features of rare genetic diseases of obesity. To better understand the contribution of SIM1 variants to severe clinical obesity, we performed functional biochemical characterization of rare SIM1 variants in Rhythm’s database of approximately 40,000 individuals with severe obesity.
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