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J. Biol. Chem., Vol. 275, Issue 29, 21789-21792, July 21, 2000
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§,
§,
,
From the 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.
Shirakawa Institute of Animal Genetics,
Odakura, Nishigo, Nishi-shirakawa, Fukushima 961-8061, Japan and
the ¶ Ohita Prefecture Livestock Experimental Station, Kuju,
Naoiri, Ohita 878-0201, Japan
The nucleotide sequence(s) reported in this paper has been submitted to the GenBankTM/EMBL Data Bank with accession number(s) AB036422 (bovine MCSU).
§ These authors contributed equally to this work.
To whom correspondence should be addressed. Tel.:
+81-248-25-5641; Fax: +81-248-25-5725; E-mail:
kazusugi@cocoa.ocn.ne.jp.
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