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Originally published In Press as doi:10.1074/jbc.C000230200 on May 8, 2000

J. Biol. Chem., Vol. 275, Issue 29, 21789-21792, July 21, 2000
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ACCELERATED PUBLICATION
Deletion Mutation in Drosophila ma-l Homologous, Putative Molybdopterin Cofactor Sulfurase Gene Is Associated with Bovine Xanthinuria Type II*

Toshio WatanabeDagger §, Naoya IharaDagger §, Tomohito ItohDagger , Tatsuo Fujita, and Yoshikazu SugimotoDagger ||

From the Dagger  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

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.


* This study was supported by grants from the Japan Racing and Livestock Promotion Foundation.The costs of publication of this article were defrayed in part by the payment of page charges. The article must therefore be hereby marked "advertisement" in accordance with 18 U.S.C. Section 1734 solely to indicate this fact.

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.


Copyright © 2000 by The American Society for Biochemistry and Molecular Biology, Inc.
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