OMIA 000262-9913 : Deficiency of uridine monophosphate synthase in Bos taurus |
In the course of their large-scale study of BovineSNP50 BeadChip haplotypes that are common but never homozygous, VanRaden et al. (2011) confirmed the mapping of this disorder to BTA1 at 55-73Mb (UMD 3.0 genome assembly).
Molecular basis: By cloning and sequencing a very likely candidate gene (based on knowledge that the bovine disorder is due to deficiency of uridine monophosphate sythetase), Schwenger et al. (1993) identified a C>T transition in the bovine UMPS gene as a causal mutation. Clinical features: Carriers are phenotypically normal, but have only half the normal activity of uridine monophosphate synthase (Harden and Robinson, 1987). Also, during lactation, carriers excrete an elevated level of orotic acid in milk and urine (Robinson et al., 1984). Carrier x carrier matings require approximately 3.1 services per calving, compared to 2.0 for normal x normal matings. [Compiled by Imke Tammen] Genetic testing: Knowledge that the causal mutation removes a recognition sequence for the restriction enzyme AvaI immediately gave rise to a DNA test. Breed: Holstein Friesian. Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
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UMPS | uridine monophosphate synthetase | Bos taurus | 1 | NC_037328.1 (69127829..69177876) | UMPS | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
290 | Friesian Holstein Holstein-Friesian Red Holstein Wagyu | Deficiency of uridine monophosphate synthase | UMPS | nonsense (stop-gain) | Naturally occurring variant | ARS-UCD1.2 | 1 | g.69151931C>T | c.1213C>T | p.(R405*) | 1993 | 8486364 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170) |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2021 | Caivio-Nasner, S., López-Herrera, A., González-Herrera, L.G., Rincón, J.C. : | |
Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle. Trop Anim Health Prod 53:546, 2021. Pubmed reference: 34779908. DOI: 10.1007/s11250-021-02990-y. | ||
2019 | Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A., Zepeda-Batista, J.L., Parra-Bracamonte, G.M., Núñez-Domínguez, R., Ramírez-Valverde, R., Ruíz-Flores, A. : | |
Screening genetic diseases prevalence in Braunvieh cattle. Trop Anim Health Prod 51:25-31, 2019. Pubmed reference: 30014197. DOI: 10.1007/s11250-018-1655-y. | ||
2011 | Sun, D.X., Fan, X.H., Xie, Y., Chu, Q., Sun, Y., Zhang, Y., Zhang, S.L., Gong, W.J., Chen, S.H., Li, Y.H., Shi, W.H., Zhang, Y. : | |
Short communication: Distribution of recessive genetic defect carriers in Chinese Holstein. J Dairy Sci 94:5695-8, 2011. Pubmed reference: 22032394. DOI: 10.3168/jds.2011-4345. | ||
VanRaden, P.M., Olson, K.M., Null, D.J., Hutchison, J.L. : | ||
Harmful recessive effects on fertility detected by absence of homozygous haplotypes. J Dairy Sci 94:6153-61, 2011. Pubmed reference: 22118103. DOI: 10.3168/jds.2011-4624. | ||
2010 | Meydan, H., Yildiz, MA., Agerholm, JS. : | |
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 52:56, 2010. Pubmed reference: 20929557. DOI: 10.1186/1751-0147-52-56. | ||
2006 | Ghanem, ME., Nakao, T., Nishibori, M. : | |
Deficiency of uridine monophosphate synthase (DUMPS) and X-chromosome deletion in fetal mummification in cattle. Anim Reprod Sci 91:45-54, 2006. Pubmed reference: 16310098. DOI: 10.1016/j.anireprosci.2005.03.008. | ||
Patel, RK., Singh, KM., Soni, KJ., Chauhan, JB., Sambasiva Rao, KR. : | ||
Lack of carriers of citrullinaemia and DUMPS in Indian Holstein cattle. J Appl Genet 47:239-42, 2006. Pubmed reference: 16877802. | ||
2005 | Kaminski, S., Grzybowski, G., Prusak, B., Rusc, A. : | |
No incidence of DUMPS carriers in Polish dairy cattle. J Appl Genet 46:395-7, 2005. Pubmed reference: 16278513. | ||
1996 | Harlizius, B., Schober, S., Tammen, I., Simon, D. : | |
Isolation of the bovine uridine monophosphate synthase gene to identify the molecular basis of DUMPS in cattle Journal of Animal Breeding & Genetics-Zeitschrift fur Tierzuchtung und Zuchtungsbiologie 113:303-309, 1996. | ||
Poli, M.A., Dewey, R., Semorile, L., Lozano, M.E., Albarino, C.G., Romanowski, V., Grau, O. : | ||
PCR screening for carriers of bovine leukocyte adhesion deficiency (BLAD) and uridine monophosphate synthase (DUMPS) in Argentine Holstein cattle Zentralblatt Fur Veterinarmedizin - Reihe A 43:163-168, 1996. Pubmed reference: 8693839. | ||
1994 | Friedl, R., Rottmann, O.J. : | |
Assignment of the Bovine Uridine Monophosphate Synthase Gene to the Bovine Chromosome Region 1Q34-36 by FISH Mammalian Genome 5:38-40, 1994. Pubmed reference: 8111127. | ||
Kotze, A., Vanderwalt, S.I., Vorster, P.W. : | ||
Incidence of UMP Synthase Deficiency in South African Holstein Cattle South African Journal of Animal Science - Suid - Afrikaanse Tydskrif Vir Veekunde 24:37-38, 1994. | ||
Kuhn, M.T., Shanks, R.D. : | ||
Association of Deficiency of Uridine Monophosphate Synthase with Production and Reproduction Journal of Dairy Science 77:589-597, 1994. Pubmed reference: 8182184. DOI: 10.3168/jds.S0022-0302(94)76988-5. | ||
Ryan, A.M., Gallagher, D.S., Schober, S., Schwenger, B., Womack, J.E. : | ||
Somatic cell mapping and in situ localization of the bovine uridine monophosphate synthase gene (UMPS) Mammalian Genome 5:46-47, 1994. Pubmed reference: 7906571. | ||
Schwenger, B., Tammen, I., Aurich, C. : | ||
Detection of the homozygous recessive genotype for deficiency of uridine monophosphate synthase by DNA typing among bovine embryos produced in vitro Journal of Reproduction and Fertility 100:511-514, 1994. Pubmed reference: 8021871. | ||
1993 | Barendse, W., Armitage, S.M., Ryan, A.M., Moore, S.S., Clayton, D., Georges, M., Womack, J.E., Hetzel, J. : | |
A genetic map of DNA loci on bovine chromosome 1 Genomics 18:602-608, 1993. Pubmed reference: 7905854. | ||
Healy, P.J., Dennis, J.A. : | ||
Inherited Enzyme Deficiencies in Livestock Veterinary Clinics of North America - Food Animal Practice 9:55-63, 1993. Pubmed reference: 8457930. | ||
Robinson, J.L., Popp, R.G., Shanks, R.D., Oosterhof, A., Veerkamp, J.H. : | ||
Testing for Deficiency of Uridine Monophosphate Synthase Among Holstein-Friesian Cattle of North America and Europe Livestock Production Science 36:287-298, 1993. | ||
Schoeber, S., Simon, D., Schwenger, B. : | ||
Sequence of the cDNA Encoding Bovine Uridine Monophosphate Synthase Gene 124:307-308, 1993. Pubmed reference: 8444356. | ||
Schwenger, B., Schober, S., Simon, D. : | ||
DUMPS Cattle Carry a Point Mutation in the Uridine Monophosphate Synthase Gene Genomics 16:241-244, 1993. Pubmed reference: 8486364. DOI: 10.1006/geno.1993.1165. | ||
1992 | Herzog, A. : | |
Genetic Defects in Cattle and the Possibilities of Control Wiener Tierarztliche Monatsschrift 79:142-148, 1992. | ||
Schwenger, B., Schober, S., Simon, D. : | ||
A TaqI Polymorphism at the Bovine Locus for Uridine Monophosphate Synthase (UMPS) Animal Genetics 23:82, 1992. Pubmed reference: 1570898. | ||
Shanks, R.D., Greiner, M.M. : | ||
Relationship Between Genetic Merit of Holstein Bulls and Deficiency of Uridine-5'-Monophosphate Synthase (Journal of Dairy Science, Vol 75, Pg 2023, 1992) Journal of Dairy Science 75:3678, 1992. | ||
Shanks, R.D., Popp, R.G., Mccoy, G.C., Nelson, D.R., Robinson, J.L. : | ||
Identification of the Homozygous Recessive Genotype for the Deficiency of Uridine Monophosphate Synthase in 35-Day Bovine Embryos Journal of Reproduction & Fertility 94:5-10, 1992. Pubmed reference: 1552492. | ||
Shanks, R.D., Greiner, M.M. : | ||
Relationship Between Genetic Merit of Holstein Bulls and Deficiency of Uridine-5'-Monophosphate Synthase Journal of Dairy Science 75:2023-2029, 1992. Pubmed reference: 1500593. DOI: 10.3168/jds.S0022-0302(92)77962-4. | ||
1990 | Anon. : | |
Hereditary Orotic Aciduria and Citrullinemia - Bovine Models Nutrition Reviews 48:193-195, 1990. | ||
Counnotte, G.H.M., Smidt, W.J. : | ||
Hereditary Ump Synthase Deficiency in Cattle Tijdschrift Voor Diergeneeskunde 115:958-959, 1990. Pubmed reference: 2281473. | ||
Shanks, R.D. : | ||
Reproductive Consequences of Deficiency of Uridine Monophosphate Synthase in Holstein Cattle American Journal of Veterinary Research 51:800-802, 1990. Pubmed reference: 2337281. | ||
Shanks, R.D., Robinson, J.L. : | ||
Deficiency of Uridine Monophosphate Synthase Among Holstein Cattle Cornell Veterinarian 80:119-122, 1990. Pubmed reference: 2318037. | ||
1989 | Shanks, R.D., Robinson, J.L. : | |
Embryonic Mortality Attributed to Inherited Deficiency of Uridine Monophosphate Synthase Journal of Dairy Science 72:3035-3039, 1989. Pubmed reference: 2625493. DOI: 10.3168/jds.S0022-0302(89)79456-X. | ||
1987 | Harden, K.K., Robinson, J.L. : | |
Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria Journal of Inherited Metabolic Disease 10:201-209, 1987. Pubmed reference: 2448544. | ||
Healey, M.H., Shanks, R.D. : | ||
Performance of females heterozygous for deficiency of uridine monophosphate synthase Journal of Dairy Science 70:945-951, 1987. Pubmed reference: 3597935. DOI: 10.3168/jds.S0022-0302(87)80098-X. | ||
Shanks, R.D., Bragg, D.S.A., Robinson, J.L. : | ||
Incidence and inheritance of deficiency for uridine monophosphate synthase in Holstein bulls Journal of Dairy Science 70:1893-1897, 1987. Pubmed reference: 3668047. DOI: 10.3168/jds.S0022-0302(87)80228-X. | ||
Shanks, R.D., Bragg, D.S.A., Robinson, J.L. : | ||
Deficiency of uridine monophosphate synthase in Holstein cattle: inheritance and body measurements Journal of Animal Science 64:695-700, 1987. Pubmed reference: 3571001. | ||
1986 | Jones, L.R., Harden, K.K., Bragg, D.S.A., Robinson, J.L. : | |
Influence of age, sex, lactational state, and exogenous growth hormone on erythrocyte UMP synthase in dairy cattle Comparative Biochemical and Physiology B 84:489-495, 1986. | ||
1984 | Robinson, J.L., Dombrowski, D.B., Harpestad, G.W., Shanks, R.D. : | |
Detection and prevalence of UMP synthase deficiency among dairy cattle. J Hered 75:277-80, 1984. Pubmed reference: 6547737. | ||
Robinson, J.L., Dombrowski, D.B., Clark, J.H., Shanks, R.D. : | ||
Oratate in milk and urine of dairy cows with a partial deficiency of uridine monophosphate synthase Journal of Dairy Science 67:1024-1029, 1984. Pubmed reference: 6547459. DOI: 10.3168/jds.S0022-0302(84)81401-0. | ||
Shanks, R.D., Dombrowski, D.B., Harpestad, G.W., Robinson, J.L. : | ||
Inheritance of UMP synthase in dairy cattle Journal of Heredity 75:337-340, 1984. Pubmed reference: 6548235. | ||
1983 | Robinson, J.L., Drabik, M.R., Dombrowski, D.B., Clark, J.H. : | |
Consequences of UMP synthase deficiency in cattle. Proc Natl Acad Sci U S A 80:321-3, 1983. Pubmed reference: 6572893. |
Edit History
- Created by Mohammad Shariflou on 11 Nov 2006
- Changed by Frank Nicholas on 14 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 29 Aug 2012
- Changed by Frank Nicholas on 12 Jun 2013
- Changed by Frank Nicholas on 24 Mar 2015
- Changed by Imke Tammen2 on 11 Sep 2021