Journal article
Functional UQCRC1 polymorphisms affect promoter activity and body lipid accumulation
Obesity (Silver Spring, Md.), Vol.15(12), pp.2896-2901
12/2007
Handle:
https://hdl.handle.net/2376/109097
PMID: 18198295
Abstract
Obesity and type 2 diabetes constitute leading public health problems worldwide. Studies have shown that insulin resistance affiliated with these conditions is associated with skeletal muscle lipid accumulation, while the latter is associated with mitochondrial dysfunctions. However, the initiation and regulation of mitochondrial biogenesis rely heavily on approximately 1000 nuclear-encoded mitochondrial regulatory proteins. In this study, we targeted the ubiquinol-cytochrome c reductase core protein I gene, a nuclear-encoded component of mitochondrial complex III, for its association with subcutaneous fat depth (SFD) and skeletal muscle lipid accumulation (SMLA) using cattle as a model. Four promoter polymorphisms were identified and genotyped on approximately 250 Wagyu x Limousin F2 progeny. Statistical analysis revealed that two completely linked polymorphic sites, g.13487C>T and g.13709G>C (r2 = 1), were significantly associated with both SFD (p < 0.01) and SMLA (p < 0.0001). The difference between TTCC and CCGG haplotypes was 0.178 cm for SFD and 0.624 scores for SMLA. Interestingly, the former haplotype produced higher promoter activities than the latter by 43% to 49% in three cell lines (p < 0.05). In addition to Rett syndrome and breast/ovarian cancer observed in other studies, we report evidence for the first time, to our knowledge, that overexpression of ubiquinol-cytochrome c reductase core protein I might affect mitochondrial morphology and/or physiology and lead to development of obesity and related conditions.
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Details
- Title
- Functional UQCRC1 polymorphisms affect promoter activity and body lipid accumulation
- Creators
- Tanja Kunej - Department of Animal Sciences, East Wilson Road, Washington State University, Pullman, WA 99164-6351, USAZeping WangJennifer J MichalTyler F DanielsNancy S MagnusonZhihua Jiang
- Publication Details
- Obesity (Silver Spring, Md.), Vol.15(12), pp.2896-2901
- Academic Unit
- Animal Sciences, Department of; Molecular Biosciences, School of
- Publisher
- United States
- Grant note
- R01 CA 104470 / NCI NIH HHS
- Identifiers
- 99900547366701842
- Language
- English
- Resource Type
- Journal article