OMIA 000194-9913 : Citrullinaemia in Bos taurus |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
ASS1 | argininosuccinate synthase 1 | Bos taurus | 11 | NC_037338.1 (100770227..100822223) | ASS1 | 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.
Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Holstein-Friesian | Citrullinaemia | ASS1 | nonsense (stop-gain) | UMD 3.1 | 11 | g.100802781C>T | c.256C>T | p.R86* | 1989 | 2813370 | 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.
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. | ||
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. | ||
2009 | Windsor, P., Agerholm, J. : | |
Inherited diseases of Australian Holstein-Friesian cattle. Aust Vet J 87:193-9, 2009. Pubmed reference: 19382928. DOI: 10.1111/j.1751-0813.2009.00422.x. | ||
2006 | 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. | ||
2004 | Goodwin, BL., Solomonson, LP., Eichler, DC. : | |
Argininosuccinate synthase expression is required to maintain nitric oxide production and cell viability in aortic endothelial cells. J Biol Chem 279:18353-60, 2004. Pubmed reference: 14970240. DOI: 10.1074/jbc.M308160200. | ||
1999 | Lee, B., Dennis, J.A., Healy, P.J., Mull, B., Pastore, L., Yu, H., Aguilar-Cordova, E., O'Brien, W., Reeds, P., Beaudet, A.L. : | |
Hepatocyte gene therapy in a large animal: A neonatal bovine model of citrullinemia Proceedings of the National Academy of Sciences of the United States of America 96:3981-3986, 1999. Pubmed reference: 10097149. | ||
Padeeri, M., Vijaykumar, K., Grupe, S., Narayan, M.P., Schwerin, M., Kumar, M.H. : | ||
Incidence of hereditary Citrullinemia and bovine leucocyte adhesion deficiency syndrome in Indian dairy cattle (Bos taurus, Bos indicus) and buffalo (Bubalus bubalis) population Archiv fur Tierzucht-Archives of Animal Breeding 42:347-352, 1999. | ||
1998 | Patejunas, G., Lee, B., Dennis, J.A., Healy, P.J., Reeds, P.J., Yu, H., Frazer, M., Mull, B., Warman, A.W., Beaudet, A.L., Obrien, W.E. : | |
Evaluation of gene therapy for citrullinaemia using murine and bovine models Journal of Inherited Metabolic Disease 21:138-150, 1998. Pubmed reference: 9686351. | ||
1996 | Grupe, S., Dietl, G., Schwerin, M. : | |
Population survey of citrullinemia on german holsteins Livestock Production Science 45:35-38, 1996. | ||
Healy, P.J. : | ||
Testing for undesirable traits in cattle - an Australian perspective Journal of Animal Science 74:917-922, 1996. Pubmed reference: 8728015. | ||
1995 | Healy, P.J., Dennis, J.A., Moule, J.F. : | |
Use of hair root as a source of DNA for the detection of heterozygotes for recessive defects in cattle Australian Veterinary Journal 72:392, 1995. Pubmed reference: 8599573. | ||
1994 | Healy, P.J., Dennis, J.A., Nicholls, P.J., Reichmann, K.G. : | |
Haemopoietic Chimaerism - A Complication in Heterozygote Detection Tests for Inherited Defects in Cattle Animal Genetics 25:1-6, 1994. Pubmed reference: 8161014. | ||
1993 | 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. | ||
Healy, P., Dennis, J., Rawlinson, R., Andersson, L. : | ||
Prenatal Diagnosis of Bovine Citrullinaemia Research in Veterinary Science 55:271-274, 1993. Pubmed reference: 8284487. | ||
Robinson, J.L., Burns, J.L., Magura, C.E., Shanks, R.D. : | ||
Low Incidence of Citrullinemia Carriers Among Dairy Cattle of the United-States Journal of Dairy Science 76:853-858, 1993. Pubmed reference: 8463494. DOI: 10.3168/jds.S0022-0302(93)77411-1. | ||
1992 | Dodd, P.R., Williams, S.H., Gundlach, A.L., Harper, P.A.W., Healy, P.J., Dennis, J.A., Johnston, G.A.R. : | |
Glutamate and gamma-Aminobutyric Acid Neurotransmitter Systems in the Acute Phase of Maple Syrup Urine Disease and Citrullinemia Encephalopathies in Newborn Calves Journal of Neurochemistry 59:582-590, 1992. Pubmed reference: 1352800. | ||
1991 | Healy, P.J., Dennis, J.A., Camilleri, L.M., Robinson, J.L., Stell, A.L., Shanks, R.D. : | |
Bovine Citrullinaemia Traced to the Sire of Linmack Kriss King Australian Veterinary Journal 68:155, 1991. Pubmed reference: 2069549. | ||
Thomsen, P.D., Nielsen, J.S. : | ||
PCR Screening for Carriers of Hereditary Citrullinaemia in Danish Holstein-Friesian Bulls Acta Veterinaria Scandinavica 32:279-282, 1991. Pubmed reference: 1803940. | ||
Thornton, R.N., Gilmour, M.L., Rammel, C.A. : | ||
Citrullinaemia in Friesian Calves New Zealand Veterinary Journal 39:145-146, 1991. | ||
1990 | Anon. : | |
Hereditary Orotic Aciduria and Citrullinemia - Bovine Models Nutrition Reviews 48:193-195, 1990. | ||
Healy, P.J., Harper, P.A.W., Dennis, J.A. : | ||
Bovine Citrullinaemia - A Clinical, Pathological, Biochemical and Genetic Study Australian Veterinary Journal 67:255-258, 1990. Pubmed reference: 2393373. | ||
1989 | Dennis, J.A., Healy, P.J., Beaudet, A.L., Obrien, W.E. : | |
Molecular Definition of Bovine Argininosuccinate Synthetase Deficiency Proceedings of the National Academy of Sciences of the United States of America 86:7947-7951, 1989. Pubmed reference: 2813370. | ||
Harper, P.A.W., Healy, P.J., Dennis, J.A. : | ||
Animal Model of Human Disease - Citrullinemia (Argininosuccinate Synthetase Deficiency) American Journal of Pathology 135:1213-1215, 1989. Pubmed reference: 2596577. | ||
1988 | Harper, PA., Healy, PJ., Dennis, JA., Martin, AB. : | |
Ultrastructural findings in citrullinaemia in Holstein-Friesian calves. Acta Neuropathol 76:306-10, 1988. Pubmed reference: 3213435. | ||
1986 | Harper, P.A.W., Healy, P.J., Dennis, J.A., O'Brien, J.J., Rayward, D.H. : | |
Citrullinaemia as a cause of neurological disease in neonatal Friesian calves Australian Veterinary Journal 63:373-379, 1986. Pubmed reference: 3827775. |
Edit History
- Created by Frank Nicholas on 27 Oct 2010
- Changed by Frank Nicholas on 30 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 19 Sep 2012