OMIA:002217-9823 : Hyperphagia leading to hepatic steatosis in Sus scrofa (pig)
Categories: Adipose tissue phene
Links to MONDO diseases:
Mendelian trait/disorder: no
Mode of inheritance: Multifactorial
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2020
Species-specific description: Kim et al. (2000): "The melanocortin-4 receptor gene (MC4R) has been implicated in the regulation of feeding behavior and body weight in humans and mice. We have studied MC4R as a candidate gene for the control of economically important growth and performance traits in the pig. A missense mutation was identified in a region highly conserved among melanocortin receptor (MCR) genes. To determine whether there was an association of this MC4R polymorphism with phenotypic variation, we tested the mutation in a large number of individual animals from several different pig lines. Analyses of growth and performance test records showed significant associations of MC4R genotypes with backfat and growth rate in a number of lines as well as feed intake overall."
Hao et al. (2019) created "MC4R biallelic knockout pigs using CRISPR/Cas9" (Hao et al., 2019). This work concerns a genetically-modified organism (GMO).
Clinical features: Hao et al. (2019) concluded "that deletion of MC4R results in hyperphagia and increased body fat, ultimately leading to hepatic steatosis without atherogenic diet."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MC4R||melanocortin 4 receptor||Sus scrofa||-||no genomic information (-..-)||MC4R||Homologene, Ensembl , NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1344||Fatness, growth, feed intake||MC4R||missense||Naturally occurring variant||Sscrofa11.1||1||g.160773437G>A||c.892G>A||p.(D298N)||ENSSSCT00000091644.1:c.892G>A ENSSSCP00000074588.1:p.Asp298Asn||rs81219178||rs81219178||2000||10656927||Variant coordinates updated based on Johnsson and Jungnickel (2021)|
Cite this entry
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||Guo, X., Geng, L., Jiang, C., Yao, W., Jin, J., Liu, Z., Mu, Y. :|
|Multiplexed genome engineering for porcine fetal fibroblasts with gRNA-tRNA arrays based on CRISPR/Cas9. Anim Biotechnol :1-10, 2023. Pubmed reference: 36946758 . DOI: 10.1080/10495398.2023.2187402.|
|2021||Johnsson, M., Jungnickel, M.K. :|
|Evidence for and localization of proposed causative variants in cattle and pig genomes. Genet Sel Evol 53:67, 2021. Pubmed reference: 34461824 . DOI: 10.1186/s12711-021-00662-x.|
|2020||Zhang, J., Li, J., Wu, C., Hu, Z., An, L., Wan, Y., Fang, C., Zhang, X., Li, J., Wang, Y. :|
|The Asp298Asn polymorphism of melanocortin-4 receptor (MC4R) in pigs: evidence for its potential effects on MC4R constitutive activity and cell surface expression. Anim Genet :, 2020. Pubmed reference: 32738077 . DOI: 10.1111/age.12986.|
|2019||Hao, H., Lin, R., Li, Z., Shi, W., Huang, T., Niu, J., Han, J., Li, Q. :|
|MC4R deficiency in pigs results in hyperphagia and ultimately hepatic steatosis without high-fat diet. Biochem Biophys Res Commun :, 2019. Pubmed reference: 31629472 . DOI: 10.1016/j.bbrc.2019.08.016.|
|2000||Kim, K.S., Larsen, N., Short, T., Plastow, G., Rothschild, M.F. :|
|A missense variant of the porcine melanocortin-4 receptor (MC4R) gene is associated with fatness, growth, and feed intake traits. Mamm Genome 11:131-5, 2000. Pubmed reference: 10656927 .|
- Created by Frank Nicholas on 22 Oct 2019
- Changed by Frank Nicholas on 22 Oct 2019
- Changed by Imke Tammen2 on 03 Sep 2021