Deletion mutation in Drosophila ma-l homologous, putative molybdopterin cofactor sulfurase gene is associated with bovine xanthinuria type II.

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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 .