Associated Gene
Natural human genetic variation determines basal and inducible expression of PM20D1, an obesity- associated gene Kiara K. Bensona,b,c, Wenxiang Hua,b,c, Angela H. Wellera,b,c, Alexis H. Bennetta,b,c,1, Eric R. Chena,b,c,2, Sumeet A. Khetarpala,b,c,3, Satoshi Yoshinoa,b,c,4, William P. Boned,e,f, Lin Wangg,h, Joshua D. Rabinowitzg,h, Benjamin F. Voightd,e,f, and Raymond E. Soccioa,b,c,5 aDepartment of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104; bDivision of Endocrinology, Diabetes, and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104; cInstitute for Diabetes, Obesity, and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104; dDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104; eDepartment of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104; fInstitute of Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104; gDepartment of Chemistry, Princeton University, Princeton, NJ 08544; and hLewis Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544 Edited by Bruce M. Spiegelman, Dana-Farber Cancer Institute/Harvard Medical School, Boston, MA, and approved September 26, 2019 (received for review August 2, 2019) PM20D1 is a candidate thermogenic enzyme in mouse fat, with its without UCP1 to stimulate energy expenditure. NAA analogs are expression cold-induced and enriched in brown versus white adipo- thus in the early stages of pharmacological development (8). cytes. Thiazolidinedione (TZD) antidiabetic drugs, which activate the PM20D1 has also emerged from human genetic studies, most peroxisome proliferator-activated receptor-γ (PPARγ) nuclear recep- notably in neurodegenerative diseases.
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