OMIA:002268-9823 : Vitamin C deficiency in Sus scrofa (pig) |
In other species: domestic guinea pig
Categories: Homeostasis / metabolism phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 240400 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2004
Species-specific name: Congenital ascorbic acid deficiency, osteogenic disorder
Species-specific symbol: od
History: Jensen et al. (1983) first described the disease in pigs. Hasan et al. (1999) observed linkage between the od locus and microsatellites SW857 and S0089, located in the subcentromeric region of SSC14, and mapped the candidate gene GULO to the same region by fluorescence in situ hybridization (FISH). Hasan et al. (2004) identified a large deletion in the GULO gene as disease causing mutation and developed a DNA test.
Molecular basis: "Here we demonstrate that the absence of GULO activity and the associated vitamin C deficiency in od/od pigs is due to the occurrence of a 4.2-kbp deletion in the GULO gene. This deletion includes 77 bp of exon VIII, 398 bp of intron 7 and 3.7 kbp of intron 8, which leads to a frame shift. The mutant protein is truncated to 356 amino acids, but only the first 236 amino acids are identical to the wild-type GULO protein." (Hasan et al., 2004)
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: "Normally, pigs produce sufficient levels of L-AA [L-ascorbic acid] to meet their requirements. However, a number of years ago, a mutant family of Danish pigs that lacks the ability to produce L-AA was discovered, and clinical cases of scurvy were described in swine for the first time (Jensen et al., 1983). Clinical signs of vitamin C deficiency in pigs include unwillingness to move, swelling around joints, signs of pain upon touching, multiple fractures, and hemorrhagic tendencies." (Hasan et al., 2004)
Breed:
Danish Landrace (Pig) (VBO_0001124).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| GULO | gulonolactone (L-) oxidase | Sus scrofa | 14 | NC_010456.5 (11299858..11332892) | GULO | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1195 | Danish Landrace (Pig) | Vitamin C deficiency | GULO | od | deletion, gross (>20) | Naturally occurring variant | 14 | "This deletion includes 77 bp of exon VIII, 398 bp of intron 7 and 3.7 kbp of intron 8, which leads to a frame shift. The mutant protein is truncated to 356 amino acids, but only the first 236 amino acids are identical to the wild-type GULO protein." (Hasan et al., 2004) | 2004 | 15112110 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:002268-9823: 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.
| 2014 | Vögeli, P., Bertschinger, H.U., Bürgi, E., Neuenschwander, S. : |
| [Inheritance and disease in the pig: possibilities of use for breeding]. Schweiz Arch Tierheilkd 156:269-77, 2014. Pubmed reference: 24867239. DOI: 10.1024/0036-7281/a000589. | |
| 2004 | Hasan, L., Vögeli, P., Stoll, P., Kramer, S.S., Stranzinger, G., Neuenschwander, S. : |
| Intragenic deletion in the gene encoding L-gulonolactone oxidase causes vitamin C deficiency in pigs. Mamm Genome 15:323-33, 2004. Pubmed reference: 15112110. DOI: 10.1007/s00335-003-2324-6. | |
| 1999 | Hasan, L., Vögeli, P., Neuenschwander, S., Stoll, P., Meijerink, E., Stricker, C., Jörg, H., Stranzinger, G. : |
| The L-gulono-gamma-lactone oxidase gene (GULO) which is a candidate for vitamin C deficiency in pigs maps to chromosome 14. Anim Genet 30:309-12, 1999. Pubmed reference: 10467707. DOI: 10.1046/j.1365-2052.1999.00481.x. | |
| 1986 | Kristensen, B., Thomsen, P.D., Palludan, B., Wegger, I. : |
| Mitogen stimulation of lymphocytes in pigs with hereditary vitamin C deficiency. Acta Vet Scand 27:486-96, 1986. Pubmed reference: 3604823. | |
| 1983 | Jensen, P.T., Basse, A., Nielsen, D.H., Larsen, H. : |
| Congenital ascorbic acid deficiency in pigs. Acta Vet Scand 24:392-402, 1983. Pubmed reference: 6675452. |
Edit History
- Created by Imke Tammen2 on 20 May 2020
- Changed by Imke Tammen2 on 20 May 2020