title: A novel c.-274C>G polymorphism in bovine SIRT1 gene contributes to diminished promoter activity and is associated with increased body size.
abstract: SIRT1, a mammalian homologue for yeast silent information regulator 2 (SIR2), is a NAD(+) -dependent deacetylase that belongs to the class III histone deacetylases. It plays an important role in diverse cellular processes, including stress resistance, mitochondrial function, suppression of inflammation and DNA repair. In this study, we screened and identified a novel polymorphism (c.-274C>G) in the SIRT1 promoter region. In silico prediction reveals that this SNP is in the core of cell cycle-dependent element (CDE)-binding motif. Interestingly, the G allele abolished a CDE-binding site, which suggested its functional significance. In the luciferase assay system, we found that the G allele-containing construct displayed a strikingly lower promoter activity compared with the C allele, which may downregulate SIRT1 expression levels. Additionally, we observed a significant association between the c.-274C>G polymorphism and growth traits in Nanyang cattle, suggesting that anomalous transcription factor-based repression of SIRT1 may increase bovine fat mass and body size.
authors: Shaanxi Key Laboratory of Molecular Biology for Agriculture, College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
authors: Ming-xun
authors: MX
authors: Li
authors: Xiao-mei
authors: XM
authors: Sun
authors: Liang-zhi
authors: LZ
authors: Zhang
authors: Jing
authors: J
authors: Wang
authors: Yong-zhen
authors: YZ
authors: Huang
authors: Yu-jia
authors: YJ
authors: Sun
authors: Shen-rong
authors: SR
authors: Hu
authors: Xian-yong
authors: XY
authors: Lan
authors: Chu-zhao
authors: CZ
authors: Lei
authors: Hong
authors: H
authors: Chen
mesh_terms: D000818:Animals; D049628:Body Size; D002417:Cattle; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D056564:Sirtuin 1 / Q000235:genetics*
chemical_list: D056564:Sirtuin 1
keywords: cattle; growth traits; luciferase assay; single nucleotide polymorphism