DUMPS is defined as a fatal genetic disorder affecting a mutation in the gene responsible for the production of the enzyme uridine monophosphate synthase (UMPS). Occurs in the Holstein-Friesian breed of cattle. This enzyme is responsible for converting orotic acid into uridine monophosphate (UMP), which is an essential component of pyrimidine nucleotides. Because nucleotides are essential during the embryonic development of an organism, the occurrence of a mutation associated with DUMPS leads to the death of the embryo at an early stage of development.
The mutation is located on chromosome 1 (BTA1) within the UMPS gene. It involves an amino acid swap in the protein chain, creating a STOP codon. The consequence of this action is a premature end of protein translation, which in turn is associated with a lack of developed uridine monophosphate synthase activity.
Individuals who are recessive homozygotes will be burdened with the disease. They contain two alleles encoding the mutation in their genotype. Carriers do not show symptoms of the disease but pass the mutation to their offspring.
Result | Interpretation |
DPS | SICK |
DPC | CARRIER |
DPF | FREE |
REFERENCES #
- Gozdek M., Kolenda M., Kamola D. & Sitkowska B. (2020). Report on the incidence of hereditary disorders (blad, dumps) in the polish population of holstein-friesian cattle. Acta Sci. Pol. Zootechnica 19(3), 15–22.
- Kamiński S., Grzybowski G., Prusak B. & Ruść A. (2005). No incidence of DUMPS carriers in Polish dairy cattle. J Appl Genet 46(4), pp. 395-397.