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The uncoupling protein 1 gene (UCP1) is disrupted in the pig lineage: A genetic explanation for poor thermoregulation in piglets
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology.
2006 (English)In: PLoS Genetics, ISSN 1553-7390, Vol. 2, no 8, 1178-1181 p.Article in journal (Refereed) Published
Abstract [en]

Piglets appear to lack brown adipose tissue, a specific type of fat that is essential for nonshivering thermogenesis in mammals, and they rely on shivering as the main mechanism for thermoregulation. Here we provide a genetic explanation for the poor thermoregulation in pigs as we demonstrate that the gene for uncoupling protein 1 (UCP1) was disrupted in the pig lineage. UCP1 is exclusively expressed in brown adipose tissue and plays a crucial role for thermogenesis by uncoupling oxidative phosphorylation. We used long-range PCR and genome walking to determine the complete genome sequence of pig UCP1. An alignment with human UCP1 revealed that exons 3 to 5 were eliminated by a deletion in the pig sequence. The presence of this deletion was confirmed in all tested domestic pigs, as well as in European wild boars, Bornean bearded pigs, wart hogs, and red river hogs. Three additional disrupting mutations were detected in the remaining exons. Furthermore, the rate of nonsynonymous substitutions was clearly elevated in the pig sequence compared with the corresponding sequences in humans, cattle, and mice, and we used this increased rate to estimate that UCP1 was disrupted about 20 million years ago.

Place, publisher, year, edition, pages
2006. Vol. 2, no 8, 1178-1181 p.
National Category
Veterinary Science
Identifiers
URN: urn:nbn:se:uu:diva-94720DOI: 10.1371/journal.pgen.0020129ISI: 000240006900007OAI: oai:DiVA.org:uu-94720DiVA: diva2:168677
Available from: 2006-09-06 Created: 2006-09-06 Last updated: 2011-06-21Bibliographically approved
In thesis
1. Genetic Analysis of Fat Metabolism in Domestic Pigs and their Wild Ancestor
Open this publication in new window or tab >>Genetic Analysis of Fat Metabolism in Domestic Pigs and their Wild Ancestor
2006 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

The domestication of the pig began about 9 000 years ago and many of the existing domestic breeds have been selected for phenotypic traits like lean meat and fast growth. Domestic pigs are phenotypically very different from the ancestral wild boar that has adapted to survive in their natural environment. Because of their divergence, crosses between domestic pigs and wild boars are suitable for constructing genetic maps and Quantitative trait locus (QTL) analyses. A cross between the Large White and the European wild boar was thus initiated in the late 1980s. A major QTL for fat deposition and growth, denoted FAT1, was found on chromosome 4. The aim of this thesis was to further characterise the FAT1 locus and to identify the causative gene(s) and mutation(s). We have identified new markers and constructed a high-resolution linkage and RH map of the FAT1 QTL interval. We also performed comparative mapping to the human genome and showed that the pig chromosome 4 is homologous to human chromosomes 1 and 8. The gene order is very well conserved between the two species. In parallel we have narrowed down the FAT1 QTL interval by repeated backcrossing to the domestic Large White breed for six generations. The QTL could be confirmed for fatness but not for growth. Furthermore, the data strongly suggested that there might be more than one gene underlying the FAT1 QTL. Depending on which hypothesis to consider, the one- or two-loci model, the FAT1 interval can be reduced to 3,3 or 20 centiMorgan (cM), respectively, based on the backcross experiments. In the last study we confirm the two-loci model with one locus primarily effecting abdominal fat and another locus primarily effecting subcutaneous fat. We have identified a missense mutation in the RXRG gene which is in strong association with the abdominal fat QTL and the mutation is a potential candidate for that locus.

Brown adipose tissue (BAT) is a specific type of fat essential for non-shivering thermogenesis in mammals. Piglets appear to lack BAT and rely on shivering as the main mechanism for thermoregulation. Uncoupling protein 1 (UCP1) gene is exclusively expressed in BAT and its physiological role is to generate heat by uncoupling oxidative phosphorylation. We show that the UCP1 gene has been disrupted in the pig lineage about 20 years ago. The inactivation of UCP1 provides a genetic explanation for the poor thermoregulation in piglets.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2006. 40 p.
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 164
Keyword
Genetics, Pig, Quantitative Trait Locus, Fat deposition, FAT1, Linkage map, RH map, Comparative map, Backcross, Identical by Descent mapping, Brown adipose tissue, UCP1, Genetik
Identifiers
urn:nbn:se:uu:diva-7089 (URN)91-554-6623-0 (ISBN)
Public defence
2006-09-29, B21, Uppsala biomedicinska centrum, Husargatan 3, Uppsala, 13:15
Opponent
Supervisors
Available from: 2006-09-06 Created: 2006-09-06Bibliographically approved

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