The human genetic variant rs6190 unveils Foxc1 and Arid5a as novel pro-metabolic targets of the glucocorticoid receptor in muscle.

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Tác giả: Olukunle Akinborewa, Hyun-Jy Chung, Hima Bindu Durumutla, Thirupugal Govindarajan, Robert Horning, Hannah Latimer, Kevin McFarland, Kevin Piczer, Ashok Daniel Prabakaran, Mattia Quattrocelli, Fadoua El Abdellaoui Soussi, Chiara Villa, Cole Werbrich

Ngôn ngữ: eng

Ký hiệu phân loại: 972.8202 *Central America

Thông tin xuất bản: United States : bioRxiv : the preprint server for biology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 214952

The genetic determinants of the glucocorticoid receptor (GR) metabolic action remain largely unelucidated. This is a compelling gap in knowledge for the GR single nucleotide polymorphism (SNP) rs6190 (p.R23K), which has been associated in humans with enhanced metabolic health but whose mechanism of action remains completely unknown. We generated transgenic knock-in mice genocopying this polymorphism to elucidate how the mutant GR impacts metabolism. Compared to non-mutant littermates, mutant mice showed increased insulin sensitivity on regular chow and high-fat diet, blunting the diet-induced adverse effects on adiposity and exercise intolerance. Overlay of RNA-seq and ChIP-seq profiling in skeletal muscle revealed increased transactivation of
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