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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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Non-shivering thermiogenesis, absence of UCP1 deletion, gross (>20) 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.
2021 Zhang, J., Khazalwa, E.M., Abkallo, H.M., Zhou, Y., Nie, X., Ruan, J., Zhao, C., Wang, J., Xu, J., Li, X., Zhao, S., Zuo, E., Steinaa, L., Xie, S. :
The advancements, challenges, and future implications of the CRISPR/Cas9 system in swine research. J Genet Genomics 48:347-360, 2021. Pubmed reference: 34144928. DOI: 10.1016/j.jgg.2021.03.015.
2017 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.

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