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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2001-4-16
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pubmed:databankReference |
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pubmed:abstractText |
Drosophila ma-l gene was suggested to encode an enzyme for sulfuration of the desulfo molybdenum cofactor for xanthine dehydrogenase (XDH) and aldehyde oxidase (AO). The human molybdenum cofactor sulfurase (HMCS) gene, the human ma-l homologue, is therefore a candidate gene responsible for classical xanthinuria type II, which involves both XDH and AO deficiencies. However, HMCS has not been identified as yet. In this study, we cloned the HMCS gene from a cDNA library prepared from liver. In two independent patients with classical xanthinuria type II, we identified a C to T base substitution at nucleotide 1255 in the HMCS gene that should cause a CGA (Arg) to TGA (Ter) nonsense substitution at codon 419. A classical xanthinuria type I patient and healthy volunteers lacked this mutation. These results indicate that a functional defect of the HMCS gene is responsible for classical xanthinuria type II, and that HMCS protein functions to provide a sulfur atom for the molybdenum cofactor of XDH and AO.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Aldehyde Oxidase,
http://linkedlifedata.com/resource/pubmed/chemical/Aldehyde Oxidoreductases,
http://linkedlifedata.com/resource/pubmed/chemical/Coenzymes,
http://linkedlifedata.com/resource/pubmed/chemical/Metalloproteins,
http://linkedlifedata.com/resource/pubmed/chemical/Pteridines,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Messenger,
http://linkedlifedata.com/resource/pubmed/chemical/Sulfurtransferases,
http://linkedlifedata.com/resource/pubmed/chemical/Xanthine Dehydrogenase,
http://linkedlifedata.com/resource/pubmed/chemical/Xanthines,
http://linkedlifedata.com/resource/pubmed/chemical/molybdenum cofactor
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0006-291X
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2001 Academic Press.
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pubmed:issnType |
Print
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pubmed:day |
20
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pubmed:volume |
282
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1194-200
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:11302742-Aged,
pubmed-meshheading:11302742-Aldehyde Oxidase,
pubmed-meshheading:11302742-Aldehyde Oxidoreductases,
pubmed-meshheading:11302742-Cloning, Molecular,
pubmed-meshheading:11302742-Coenzymes,
pubmed-meshheading:11302742-DNA Mutational Analysis,
pubmed-meshheading:11302742-Exons,
pubmed-meshheading:11302742-Humans,
pubmed-meshheading:11302742-Introns,
pubmed-meshheading:11302742-Japan,
pubmed-meshheading:11302742-Liver,
pubmed-meshheading:11302742-Male,
pubmed-meshheading:11302742-Metalloproteins,
pubmed-meshheading:11302742-Middle Aged,
pubmed-meshheading:11302742-Molecular Sequence Data,
pubmed-meshheading:11302742-Mutation,
pubmed-meshheading:11302742-Polymorphism, Genetic,
pubmed-meshheading:11302742-Pteridines,
pubmed-meshheading:11302742-Purine-Pyrimidine Metabolism, Inborn Errors,
pubmed-meshheading:11302742-RNA, Messenger,
pubmed-meshheading:11302742-Sequence Analysis, DNA,
pubmed-meshheading:11302742-Sequence Homology, Amino Acid,
pubmed-meshheading:11302742-Sulfurtransferases,
pubmed-meshheading:11302742-Xanthine Dehydrogenase,
pubmed-meshheading:11302742-Xanthines
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pubmed:year |
2001
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pubmed:articleTitle |
Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II.
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pubmed:affiliation |
Division of Nephrology and Hypertension, Department of Internal Medicine, Jikei University School of Medicine, 3-25-8 Nishishimbashi, Minato-ku, Tokyo, 105-8461, Japan. ichida@jikei.ac.jp
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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