OMIA 001436-9823 : Non-shivering thermiogenesis, absence of in Sus scrofa |
Mendelian trait/disorder:
unknown
Considered a defect:
yes
Year key variant first reported:
2006
Species-specific description:
Berg et al. (2006) presented convincing evidence that the poor thermoregulation ability of piglets is due to the whole pig lineage having a disrupted form of the gene for uncoupling protein 1 (UCP1), which in other species "is exclusively expressed in brown adipose tissue and plays a crucial role for thermogenesis by uncoupling oxidative phosphorylation". Specifically, exons 3 to 5 have been deleted in domestic pigs and their near relatives (European wild boars, Bornean bearded pigs, wart hogs, and red river hogs), indicating that the disruptive mutation occurred around 20 million years ago.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| UCP1 | uncoupling protein 1 | Sus scrofa | - | no genomic information (-..-) | UCP1 | Homologene, Ensembl, NCBI gene |
Variants
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Non-shivering thermiogenesis, absence of | UCP1 | deletion, gross (>20) | "exons 3 to 5 were eliminated by a deletion in the pig sequence" | 2006 | 16933999 |
Reference
| 2006 | Berg, F., Gustafson, U., Andersson, L. : | |
| The Uncoupling Protein 1 Gene (UCP1) Is Disrupted in the Pig Lineage: A Genetic Explanation for Poor Thermoregulation in Piglets. PLoS Genet 2:e129, 2006. Pubmed reference: 16933999. DOI: 10.1371/journal.pgen.0020129. |
Edit History
- Created by Frank Nicholas on 01 Dec 2009
- Changed by Frank Nicholas on 08 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 05 Aug 2013
- Changed by Frank Nicholas on 12 Dec 2017