This review summarizes what is currently known on the TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1) gene and gives an overview of its links with human obesity and related traits, taking also information from other animals. Several studies indicated that TBC1D1 contributes to the development of obesity by regulating skeletal muscle insulin sensitivity. A polymorphic site (p.R125W) in the human gene has been associated with female body mass index (BMI) in a few different cohorts. Few other polymorphisms in this gene were associated with BMI and diabetic nephropathy. Following a candidate gene approach, polymorphisms in the pig TBC1D1 gene were associated with fat deposition traits. In chicken, a few quantitative trait loci for growth and fat deposition were localized in the region containing TBC1D1. These complementary results could contribute to further understand the role of TBC1D1 in developing obesity.
Fontanesi L., Bertolini F. (2013). The TBC1D1 Gene. Structure, Function, And Association with Obesity and Related Traits. VITAMINS AND HORMONES, 91, 77-95 [10.1016/B978-0-12-407766-9.00004-3].
The TBC1D1 Gene. Structure, Function, And Association with Obesity and Related Traits
FONTANESI, LUCA;BERTOLINI, FRANCESCA
2013
Abstract
This review summarizes what is currently known on the TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1) gene and gives an overview of its links with human obesity and related traits, taking also information from other animals. Several studies indicated that TBC1D1 contributes to the development of obesity by regulating skeletal muscle insulin sensitivity. A polymorphic site (p.R125W) in the human gene has been associated with female body mass index (BMI) in a few different cohorts. Few other polymorphisms in this gene were associated with BMI and diabetic nephropathy. Following a candidate gene approach, polymorphisms in the pig TBC1D1 gene were associated with fat deposition traits. In chicken, a few quantitative trait loci for growth and fat deposition were localized in the region containing TBC1D1. These complementary results could contribute to further understand the role of TBC1D1 in developing obesity.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
