Bovine/DUMPS
| Description | Deficiency of uridine monophosphate synthase (DUMPS) |
|---|---|
| Species/breed | Holstein |
| Sample |
Hair EDTA anticoagulated blood Biopsy Semen |
| Mutation | Recessive |
| Information | DUMPS is caused by a recessive mutation on the gene which encodes for the Uridine Monophosphate Synthetase (UMPS) protein. The mutation inhibits the expression of a functional protein. UMPS is an enzyme responsible for the transition of a specific acid to Uridine Monophosphate (UMP) and therefore is an essential element of pyrimidines. The enzyme has two important functions in the final stages of the process to make pyrimidines, which causes a defect in UMPS (DUMPS) to have major consequences. The disease is mainly present in Holstein cattle. The rare hereditary disease causes early abortion of calves, which is caused by the fact that the defect enzyme looses its function. Embryos affected by DUMPS die in the uterus after about 40 days of pregnancy. Cattle which are carrier of the disease show no symptoms, but express only half of the normal amount of UMPS. |