Source:http://linkedlifedata.com/resource/pubmed/id/15112110
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
4
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| pubmed:dateCreated |
2004-4-27
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| pubmed:databankReference | |
| pubmed:abstractText |
The absence of L-ascorbic acid (L-AA, or AA) synthesis in scurvy-prone organisms, including humans, other primates, guinea pigs, and flying mammals, was traced to the lack of L-gulonolactone oxidase (GULO) activity. GULO is a microsomal enzyme that catalyzes the terminal step in the biosynthesis of L-AA. Clinical cases of scurvy were described in a family of Danish pigs. This trait is controlled by a single autosomal recessive allele designated od (osteogenic disorder). Here we demonstrate that the absence of GULO activity and the associated vitamin C deficiency in od/od pigs is due to the occurrence of a 4.2-kbp deletion in the GULO gene. This deletion includes 77 bp of exon VIII, 398 bp of intron 7 and 3.7 kbp of intron 8, which leads to a frame shift. The mutant protein is truncated to 356 amino acids, but only the first 236 amino acids are identical to the wild-type GULO protein. In addition, the od allele seems to be less expressed in deficient and heterozygous pigs compared with the normal allele in heterozygous and wild-type animals as determined by ribonuclease protection assay. We also developed a DNA-based test for the diagnosis of the deficient allele. However, we failed to identify the mutated allele in other pig populations.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Ascorbic Acid,
http://linkedlifedata.com/resource/pubmed/chemical/DNA,
http://linkedlifedata.com/resource/pubmed/chemical/L-Gulonolactone Oxidase,
http://linkedlifedata.com/resource/pubmed/chemical/RNA, Messenger,
http://linkedlifedata.com/resource/pubmed/chemical/Sugar Alcohol Dehydrogenases
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| pubmed:status |
MEDLINE
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| pubmed:month |
Apr
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| pubmed:issn |
0938-8990
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| pubmed:author | |
| pubmed:issnType |
Print
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| pubmed:volume |
15
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
323-33
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| pubmed:dateRevised |
2006-11-15
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| pubmed:meshHeading |
pubmed-meshheading:15112110-Animals,
pubmed-meshheading:15112110-Ascorbic Acid,
pubmed-meshheading:15112110-Ascorbic Acid Deficiency,
pubmed-meshheading:15112110-Base Sequence,
pubmed-meshheading:15112110-Blotting, Northern,
pubmed-meshheading:15112110-Crosses, Genetic,
pubmed-meshheading:15112110-DNA,
pubmed-meshheading:15112110-Female,
pubmed-meshheading:15112110-Gene Deletion,
pubmed-meshheading:15112110-L-Gulonolactone Oxidase,
pubmed-meshheading:15112110-Liver,
pubmed-meshheading:15112110-Male,
pubmed-meshheading:15112110-Microsomes, Liver,
pubmed-meshheading:15112110-Molecular Sequence Data,
pubmed-meshheading:15112110-RNA, Messenger,
pubmed-meshheading:15112110-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:15112110-Sugar Alcohol Dehydrogenases,
pubmed-meshheading:15112110-Swine
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| pubmed:year |
2004
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| pubmed:articleTitle |
Intragenic deletion in the gene encoding L-gulonolactone oxidase causes vitamin C deficiency in pigs.
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| pubmed:affiliation |
Institute of Animal Sciences, Tannenstrasse 1, ETH-Zentrum, CH-8092 Zurich, Switzerland.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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