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OMIA 001436-9823 : Non-shivering thermiogenesis, absence of in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 113730 (gene)

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.

Zheng et al. (2017) report the "application of a CRISPR/Cas9-mediated, homologous recombination (HR)-independent approach to efficiently insert mouse adiponectin-UCP1 into the porcine endogenous UCP1 locus." (GMO)

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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
931 Non-shivering thermiogenesis, absence of UCP1 deletion, gross (>20) Naturally occurring variant 8 "exons 3 to 5 were eliminated by a deletion in the pig sequence" 2006 16933999
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References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2022 Tu, C.F., Chuang, C.K., Yang, T.S. :
The application of new breeding technology based on gene editing in pig industry. Anim Biosci :, 2022. Pubmed reference: 34991204. DOI: 10.5713/ab.21.0390.
2017 Hou, L., Shi, J., Cao, L., Xu, G., Hu, C., Wang, C. :
Pig has no uncoupling protein 1. Biochem Biophys Res Commun 487:795-800, 2017. Pubmed reference: 28442343. DOI: 10.1016/j.bbrc.2017.04.118.
Lin, J., Cao, C., Tao, C., Ye, R., Dong, M., Zheng, Q., Wang, C., Jiang, X., Qin, G., Yan, C., Li, K., Speakman, J.R., Wang, Y., Jin, W., Zhao, J. :
Cold adaptation in pigs depends on UCP3 in beige adipocytes. J Mol Cell Biol 9:364-375, 2017. Pubmed reference: 28486585. DOI: 10.1093/jmcb/mjx018.
Zheng, Q., Lin, J., Huang, J., Zhang, H., Zhang, R., Zhang, X., Cao, C., Hambly, C., Qin, G., Yao, J., Song, R., Jia, Q., Wang, X., Li, Y., Zhang, N., Piao, Z., Ye, R., Speakman, J.R., Wang, H., Zhou, Q., Wang, Y., Jin, W., Zhao, J. :
UCP1 using CRISPR/Cas9 in the white adipose tissue of pigs decreases fat deposition and improves thermogenic capacity. Proc Natl Acad Sci U S A 114:E9474-E9482, 2017. Pubmed reference: 29078316. DOI: 10.1073/pnas.1707853114.
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.
1989 Trayhurn, P., Temple, N.J., Van Aerde, J. :
Evidence from immunoblotting studies on uncoupling protein that brown adipose tissue is not present in the domestic pig. Can J Physiol Pharmacol 67:1480-5, 1989. Pubmed reference: 2627687. DOI: 10.1139/y89-239.

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
  • Changed by Imke Tammen2 on 25 Jun 2021
  • Changed by Imke Tammen2 on 11 Jan 2022