Xanthinuria, type II
- Phene ID
- 3544
- Name
- Xanthinuria, type II
- Phene Name
- N/A
- OMIA ID
- 1819
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2000
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 446 | Xanthinuria, type II | 388161121 | 1 | 24 | NC_037351.1:g.20936257_20936259del | NM_174081.2:c.769_771del | NP_776506.1:p.(Y257del) |
| 492 | Xanthinuria, type II | 388161121 | 1 | 24 | NC_037351.1:g.20911933del | XM_024984177.1:c.1881del | XP_024839945.1:p.(S628Vfs9*) |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Brown Swiss (Cattle) | 59 | 9913 | http://purl.obolibrary.org/obo/VBO_0000166 |
| Japanese Black, Japan (Cattle) | 31 | 9913 | http://purl.obolibrary.org/obo/VBO_0004987 |
| Original Swiss Brown (Cattle) | 1500 | 9913 | http://purl.obolibrary.org/obo/VBO_0000328 |
| Tiroler Grauvieh (Cattle) | 1349 | 9913 | http://purl.obolibrary.org/obo/VBO_0000408 |
Pedigree analysis by Watanabe et al. (2000) revealed autosomal recessive inheritance in Japanese Black cattle. Similar evidence was reported for Tyrolean Grey cattle by Murgiano et al. (2016).
Cloning and sequencing of the bovine gene encoding molybdopterin cofactor sulfurase (MCSU, now called MOCOS) in normal and affected cattle, by Watanabe et al. (2000), revealed the causal mutation to be a 3bp deletion (c.769_771delTAC) of codon 257 (deleting Tyr) in the MOCOS gene (omia.variant:446). 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) [omia.variant:492], located in an 11 Mb region of homozygosity on BTA 24)". Jacinto et al. (2023) reported an affected Brown Swiss animal homozygous for the variant described by Murgiano et al. (2016) (omia.variant:492).