OMIA 002268-9823 : Vitamin C deficiency in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 240400 (trait)

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)

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.

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

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
Danish Landrace Vitamin C deficiency GULO od deletion, gross (>20) 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

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.

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  • Created by Imke Tammen2 on 20 May 2020
  • Changed by Imke Tammen2 on 20 May 2020