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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
1998-11-23
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pubmed:abstractText |
The severity of human mucopolysaccharidosis type VII (MPS VII), or Sly syndrome, depends on the relative activity of the enzyme beta-glucuronidase. Loss of beta-glucuronidase activity can cause hydrops fetalis, with in utero or postnatal death of the patient. In this report, we show that beta-glucuronidase activity is not detectable by a standard fluorometric assay in C3H/HeOuJ (C3H) mice homozygous for a new mutation, gusmps2J. These gusmps2J/gusmps2J mice are born and survive much longer than the previously characterized beta-glucuronidase-null B6.C-H-2(bm1)/ByBir-gusmps (gusmps/gusmps) mice. Northern blot analysis of liver from gusmps2J/gusmps2J mice demonstrates a 750-bp reduction in size of beta-glucuronidase mRNA. A 5.4-kb insertion in the Gus-sh nucleotide sequence from these mice was localized by Southern blot analysis to intron 8. The ends of the inserted sequences were cloned by inverse PCR and revealed an intracisternal A-particle (IAP) element inserted near the 3' end of the intron. The sequence of the long terminal repeat (LTR) regions of the IAP most closely matches that of a composite LTR found in transposed IAPs previously identified in the C3H strain. The inserted IAP may contribute to diminished beta-glucuronidase activity either by interfering with transcription or by destabilizing the message. The resulting phenotype is much less severe than that previously described in the gusmps/gusmps mouse and provides an opportunity to study MPS VII on a genetic background that clearly modulates disease severity.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-1195397,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-1429588,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-1465145,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-1729601,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-1922055,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-1954394,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-231933,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-2440339,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-2495302,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-2838175,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-3146900,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-3196706,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-3561408,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-4202279,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-4265197,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-6088946,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-6576346,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-6584873,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-6813001,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-7489507,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-7498529,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-7615634,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-7633414,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-7926745,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-7987393,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-8101990,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-8200966,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-8246961,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-8471772,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-8479745,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-8644704,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-8707294,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-8852853,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-9023352,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-9158155,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-9182797,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-9205121,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-9256466,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-9271670,
http://linkedlifedata.com/resource/pubmed/commentcorrection/9774663-9335612
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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 |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0270-7306
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
18
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
6474-81
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:9774663-Animals,
pubmed-meshheading:9774663-Base Sequence,
pubmed-meshheading:9774663-DNA Mutational Analysis,
pubmed-meshheading:9774663-Disease Models, Animal,
pubmed-meshheading:9774663-Genes, Intracisternal A-Particle,
pubmed-meshheading:9774663-Genotype,
pubmed-meshheading:9774663-Glucuronidase,
pubmed-meshheading:9774663-Humans,
pubmed-meshheading:9774663-Liver,
pubmed-meshheading:9774663-Lysosomes,
pubmed-meshheading:9774663-Mice,
pubmed-meshheading:9774663-Mice, Inbred Strains,
pubmed-meshheading:9774663-Molecular Sequence Data,
pubmed-meshheading:9774663-Mucopolysaccharidosis VII,
pubmed-meshheading:9774663-Mutagenesis, Insertional,
pubmed-meshheading:9774663-Phenotype,
pubmed-meshheading:9774663-Polymerase Chain Reaction,
pubmed-meshheading:9774663-RNA, Messenger,
pubmed-meshheading:9774663-alpha-Galactosidase,
pubmed-meshheading:9774663-beta-N-Acetylhexosaminidases
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pubmed:year |
1998
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pubmed:articleTitle |
Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse.
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pubmed:affiliation |
The Jackson Laboratory, Bar Harbor, Maine 04609, USA. bfg@artha.jax.org
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