Deficiency in Uridine Monophosphate Synthase (DUMPS)

 

Gene: UMPS

Transmission: Autosomal recessive

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutation: Substitution, UMPS gene; c.1213C>T, exon 5, p.(R405STOP), bovine chromosome 1.

Medical systems: Reproduction

Breed: Holstein

Age of onset of symptoms: embryo lethal.

Uridine monophosphate synthase deficiency (UMPS) is a genetic disease caused by a deficiency in an enzyme whose role is to convert orotic acid into uridine monophosphate. The latter molecule is an essential component for the synthesis of the nucleotides that make up DNA.

Embryos homozygous (with two copies) for the mutation are not able to make enough DNA to support their growth, and they die in utero usually 40-50 days after insemination.  Prior to death of the double mutated embryo, the cow will excrete high levels of orotic acid in milk and urine.  After death and resorption of the double mutated embryo, the cow returns to heat.  The disease may go unnoticed except for poorly defined fertility problems.

During the 1990’s the frequency of the mutated allele in the Holstein cow population in the USA was 1-2%.  DNA testing has essentially eliminated the mutated allele from Holstein genetics.

 

References:

OMIA link: [0262-9913]

Caivio-Nasner S, López-Herrera A, González-Herrera LG, et al. (2021) Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle. Trop Anim Health Prod 53:546. [pubmed/34779908]

Meydan H, Yildiz MA, Agerholm JS. (2010) Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Turkey. Acta Vet Scand. 52(1):56. [pubmed/20929557]

Schwenger B, Schober S, Simon D. (1993) DUMPS cattle carry a point mutation in the uridine monophosphate synthase gene. Genomics 16:241-244. [pubmed/8486364]

Shanks RD. (1990) Reproductive consequences of deficiency of uridine monophosphate synthase in Holstein cattle. Am J Vet Res. 51(5):800-2. [pubmed/2337281]

Shanks RD, Robinson JL. (1989) Embryonic mortality attributed to inherited deficiency of uridine monophosphate synthase. J Dairy Sci. 72(11):3035-9. [pubmed/2625493]
Compiled by: Dr. Anaïs Fournier-Leclaire, Class of 2023, Faculté de médecine vétérinaire, Université de Montréal. (Translation DWS).