OMIA:000262-89462 : Deficiency of uridine monophosphate synthase in Bubalus bubalis (water buffalo)
In other species: taurine cattle
Categories: Mortality / aging (incl. embryonic lethal)
Links to MONDO diseases:
Mendelian trait/disorder: unknown
Considered a defect: no
Cross-species summary: Uridine monophosphate synthase (UMPS) is the enzyme responsible for converting orotic acid to uridine monophosphate (UMP), which is an essential component of pyrimidine nucleotides. This enzyme actually has two enzymatic functions: orotic phosphoribosyltransferase (OPRTase) and orotidine monophosphate decarboxylase (OMPDCase), corresponding to the last two steps in pyrimidine synthesis. Since pyrimidines are vital ingredients of nucleic acids, it follows that a deficiency of UMPS can have quite severe consequences.
Species-specific description: Sudhakar et al. (2021) reported false positive results in a PCR-RFLP test for the likely causal variant causing DUMPS in cattle.
A novel A to G substitution in Murrah buffalo, which changed the AvaI restriction recognition site used in the PCR-RFLP test developed for cattle, was identified by Sanger sequencing.
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
|2021||Sudhakar, A., Khade, A., Nayee, N., Chandrasekhar Reddy, R.V., Maurya, B. :|
|Novel mutation in UMPS gene leads to false positive result of DUMPS (genetic disorder) in buffaloes: need for gene sequencing before confirming results of RFLP in new species. J Genet 100:55, 2021. Pubmed reference: 34344843.|
- Created by Imke Tammen2 on 08 Aug 2021
- Changed by Imke Tammen2 on 23 Feb 2023