OMIA 001819-9913 : Xanthinuria, type II in Bos taurus
Murgiano et al. (2016) discovered a different mutation in the MUCOS gene as the likely cause in Tyrolean Grey cattle: "1 bp deletion in the molybdenum cofactor sulfurase (MOCOS) gene (g.21222030delC; c.1881delG and c.1782delG), located in an 11 Mb region of homozygosity on BTA 24)".Clinical features: As reported by Watanabe et al. (2000), this disorder is "characterized by elevated xanthine secretion in the urine associated with lethal growth retardation at approximately 6 months of age . . . Affected cattle had expanded renal tubules containing xanthine calculi ranging from 1–3 mm in diameter". A diagnostic feature is the lack of xanthine dehydrogenase (XDH) and aldehyde oxidase (AO). Prevalence: Watanabe et al. (2000) "confirmed that more than 300 xanthinuria-affected [Japanese Black] cattle have been recorded over the last 20 years and that all parents were descendants of a putative founder sire. Affected male, female, and unknown offspring numbered 177, 148, and 9, respectively." Bhati et al. (2020) reported that two Braunvieh "ancestor bulls born in 1967 and 1974 ... were heterozygous carriers of a single base pair deletion (BTA24:g.21222030delC) in the MOCOS gene that causes xanthinuria in the homozygous state in Tyrolean grey cattle." Breed: Japanese Black. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MOCOS||molybdenum cofactor sulfurase||Bos taurus||24||NC_037351.1 (20946894..20886491)||MOCOS||Homologene, Ensembl, NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|Tyrolean Grey||Xanthinuria, type II||MOCOS||deletion, small (<=20)||ARS-UCD1.2||24||g.20911933del||c.1881del||p.(S628Vfs9*)||Published using UMD3.1 position: g.21222030delC; cDNA and protein positions are given transcript: ENSBTAT00000048768. Positions for a second transcript (ENSBTAT00000065375) were given in the paper: c.1782del and p.(S595Vfs9*).||2016||27919260||The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.|
|Japanese Black||Xanthinuria, type II||MOCOS||deletion, small (<=20)||ARS-UCD1.2||24||g.20936257_20936259del||c.769_771del||p.(Y257del)||published as c.769_771delTAC||2000||10801779||The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.|
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.
|2020||Bhati, M., Kadri, N.K., Crysnanto, D., Pausch, H. :|
|Assessing genomic diversity and signatures of selection in Original Braunvieh cattle using whole-genome sequencing data. BMC Genomics 21:27, 2020. Pubmed reference: 31914939. DOI: 10.1186/s12864-020-6446-y.|
|2016||Murgiano, L., Jagannathan, V., Piffer, C., Diez-Prieto, I., Bolcato, M., Gentile, A., Drögemüller, C. :|
|A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle. BMC Vet Res 12:276, 2016. Pubmed reference: 27919260. DOI: 10.1186/s12917-016-0904-4.|
|2000||Watanabe, T., Ihara, N., Itoh, T., Fujita, T., Sugimoto, Y. :|
|Deletion mutation in Drosophila ma-l homologous, putative molybdopterin cofactor sulfurase gene is associated with bovine xanthinuria type II. J Biol Chem 275:21789-92, 2000. Pubmed reference: 10801779. DOI: 10.1074/jbc.C000230200.|
|1997||Mizoguchi, H. :|
|Livestock Technology (Japan) 509:2-6, 1997.|
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