OMIA:001436-9823 : Non-shivering thermiogenesis, absence of in Sus scrofa (pig) |
Categories: Adipose tissue phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 113730 (gene)
Mendelian trait/disorder: unknown
Disease-related: 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)
Genetic engineering:
Yes - in addition to the occurrence of natural variants, variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
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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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 | 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 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001436-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2023 | Li, W., Chen, Y., Zhang, Y., Zhao, N., Zhang, W., Shi, M., Zhao, Y., Cai, C., Lu, C., Gao, P., Guo, X., Li, B., Kim, S.W., Yang, Y., Cao, G. : |
| Transcriptome analysis revealed potential genes of skeletal muscle thermogenesis in Mashen pigs and Large White pigs under cold stress. Int J Mol Sci 24:15534, 2023. Pubmed reference: 37958518. DOI: 10.3390/ijms242115534. | |
| 2022 | Tu, C.F., Chuang, C.K., Yang, T.S. : |
| The application of new breeding technology based on gene editing in pig industry - A review. Anim Biosci 35:791-803, 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
- Changed by Imke Tammen2 on 18 Dec 2023