Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitochondrial brown fat uncoupling protein 1

The UCP1 gene encodes a mitochondrial anion transporter which is involved in the regulation of energy consumption and heat production. Mutations can cause obesity wich follows a dominant model. Also synergistic effects with mutations in other genes have to be taken into account.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Susceptibility to obesity
ADRB2
ADRB3
CARTPT
ENPP1
GHRL
PPARGC1B
SDC3
UCP1

References:

1.

Urhammer SA et al. (2000) Studies of the synergistic effect of the Trp/Arg64 polymorphism of the beta3-adrenergic receptor gene and the -3826 A-->G variant of the uncoupling protein-1 gene on features of obesity and insulin resistance in a population-based sample of 379 young Danish subjects.

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2.

Fletcher C et al. (1991) A multilocus linkage map of mouse chromosome 8.

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3.

Cassard AM et al. (1990) Human uncoupling protein gene: structure, comparison with rat gene, and assignment to the long arm of chromosome 4.

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4.

Jacobsson A et al. (1985) Mitochondrial uncoupling protein from mouse brown fat. Molecular cloning, genetic mapping, and mRNA expression.

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5.

Ridley RG et al. (1986) Complete nucleotide and derived amino acid sequence of cDNA encoding the mitochondrial uncoupling protein of rat brown adipose tissue: lack of a mitochondrial targeting presequence.

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6.

Bouillaud F et al. (1988) Detection of brown adipose tissue uncoupling protein mRNA in adult patients by a human genomic probe.

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7.

Bouillaud F et al. (1986) Complete cDNA-derived amino acid sequence of rat brown fat uncoupling protein.

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8.

Oppert JM et al. (1994) DNA polymorphism in the uncoupling protein (UCP) gene and human body fat.

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9.

Lowell BB et al. () Development of obesity in transgenic mice after genetic ablation of brown adipose tissue.

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10.

Clément K et al. (1996) Additive effect of A-->G (-3826) variant of the uncoupling protein gene and the Trp64Arg mutation of the beta 3-adrenergic receptor gene on weight gain in morbid obesity.

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11.

Enerbäck S et al. (1997) Mice lacking mitochondrial uncoupling protein are cold-sensitive but not obese.

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12.

Thomas SA et al. (1997) Thermoregulatory and metabolic phenotypes of mice lacking noradrenaline and adrenaline.

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13.

Urhammer SA et al. (1997) Studies of genetic variability of the uncoupling protein 1 gene in Caucasian subjects with juvenile-onset obesity.

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14.

Echtay KS et al. (2000) Coenzyme Q is an obligatory cofactor for uncoupling protein function.

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15.

Echtay KS et al. (2002) Superoxide activates mitochondrial uncoupling proteins.

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16.

Nagai N et al. (2003) The -3826 A-->G variant of the uncoupling protein-1 gene diminishes postprandial thermogenesis after a high fat meal in healthy boys.

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17.

Bernal-Mizrachi C et al. (2005) Vascular respiratory uncoupling increases blood pressure and atherosclerosis.

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18.

Berg F et al. (2006) The uncoupling protein 1 gene (UCP1) is disrupted in the pig lineage: a genetic explanation for poor thermoregulation in piglets.

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19.

Tateishi K et al. (2009) Role of Jhdm2a in regulating metabolic gene expression and obesity resistance.

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20.

Gerhart-Hines Z et al. (2013) The nuclear receptor Rev-erbα controls circadian thermogenic plasticity.

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21.

Kong X et al. (2014) IRF4 is a key thermogenic transcriptional partner of PGC-1α.

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22.

Chouchani ET et al. (2016) Mitochondrial ROS regulate thermogenic energy expenditure and sulfenylation of UCP1.

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23.

NCBI article

NCBI 7350 [^]
24.

OMIM.ORG article

Omim 113730 [^]
25.

Wikipedia article

Wikipedia EN (Thermogenin) [^]
Update: April 29, 2019