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

被引：52

作者：

Watanabe, T

Ihara, N

Itoh, T

Fujita, T

Sugimoto, Y ^{[1
]}

机构：

[1] Shirakawa Inst Anim Genet, Fukushima 9618061, Japan

[2] Ohita Prefecture Livestock Expt Stn, Naoiri, Ohita 8780201, Japan

来源：

JOURNAL OF BIOLOGICAL CHEMISTRY | 2000年 / 275卷 / 29期

关键词：

D O I：

10.1074/jbc.C000230200

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：21789 / 21792

页数：4

共 19 条

[1] The hxB gene, necessary for the post-translational activation of purine hydroxylases in Aspergillus nidulans, is independently controlled by the purine utilization and the nicotinate utilization transcriptional activating systems [J].