Defective xanthine dehydrogenase (XDH) activity in humans results in xanthinuria and xanthine calculus accumulation in kidneys. Bovine xanthinuria was demonstrated in a local herd and characterized as xanthinuria type II, similar to the Drosophila ma-l mutations, which lose activities of molybdoenzymes, XDH, and aldehyde oxidase, although sulfite oxidase activity is preserved. Linkage analysis located the disease locus at the centromeric region of bovine chromosome 24, where a ma-l homologous, putative molybdopterin cofactor sulfurase gene (MCSU) has been physically mapped. We found that a deletion mutation at tyrosine 257 in MCSU is tightly associated with bovine xanthinuria type II.
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| rdf:type | |
| rdfs:comment |
Defective xanthine dehydrogenase (XDH) activity in humans results in xanthinuria and xanthine calculus accumulation in kidneys. Bovine xanthinuria was demonstrated in a local herd and characterized as xanthinuria type II, similar to the Drosophila ma-l mutations, which lose activities of molybdoenzymes, XDH, and aldehyde oxidase, although sulfite oxidase activity is preserved. Linkage analysis located the disease locus at the centromeric region of bovine chromosome 24, where a ma-l homologous, putative molybdopterin cofactor sulfurase gene (MCSU) has been physically mapped. We found that a deletion mutation at tyrosine 257 in MCSU is tightly associated with bovine xanthinuria type II.
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| uniprot:name |
J. Biol. Chem.
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| uniprot:author |
Fujita T.,
Ihara N.,
Itoh T.,
Sugimoto Y.,
Watanabe T.
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| uniprot:date |
2000
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| uniprot:pages |
21789-21792
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| uniprot:title |
Deletion mutation in Droshophila ma-l homologous, putative molybdopterin cofactor sulfurase gene is associated with bovine xanthinuria type II.
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| uniprot:volume |
275
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| dc-term:identifier |
doi:10.1074/jbc.C000230200
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