High impact information on UMPS

• Indeed, these cows, with half the normal level of UMP synthase, are probably heterozygotes with a 50% chance of passing the deficient allele to their progeny [1].
• Cows deficient in UMP synthase secreted milk with abnormally high levels of orotate, 300-1,000 micrograms of orotate per ml compared to 80 micrograms/ml for normal cows [1].
• The deduced amino acid sequence shows a high degree of homology to UMPS sequences reported from other species, namely for regions corresponding to the putative catalytic sites [2].
• Complete concurrence of deficiency of UMPS and the presence of the described point mutation in heterozygous animals was observed, thus confirming this point mutation as the basic defect in DUMPS cattle [3].
• In the present study we used a cattle genomic probe to localize UMPS to river buffalo chromosomes by fluorescence in situ hybridization [4].

Biological context of UMPS

• The predominant phenotype (assumed normal) had twice the concentration of UMP synthase as the second phenotype (deficient) [5].

Anatomical context of UMPS

• Erythrocyte UMP synthase for 85 daughters showed a bimodal distribution with 42 having half the normal activity of 43 others [6].

Associations of UMPS with chemical compounds

• Because UMP synthase is needed for pyrimidine biosynthesis and hence DNA and RNA metabolism, it was hypothesized that a partial deficiency could result in slower growth and smaller size for affected animals [6].
• Specifically, erythrocyte concentration of phosphoribosylpyrophosphate (PRPP) and activities of PRPP synthetase, adenine phosphoribosyltransferase, and hypoxanthine-guanine phosphoribosyltransferase appear to be normal in cattle heterozygous for UMP synthase deficiency [7].

Analytical, diagnostic and therapeutic context of UMPS

• UMPS gene of the mummies was amplified by polymerase chain reaction (PCR) with DUMPS primers [8].
• Erythrocyte UMP synthase also was measured in 85 Holstein bulls used for artificial insemination and 6 had low levels of UMP synthase (1.39 +/- 0.19 vs. 2.92 +/- 0.05 units/ml); the binomial classification accounted for 42 percent of the variation [9].

References