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Article: Aberrant mRNA splicing causes sorbitol dehydrogenase deficiency in C57BL/LiA mice
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TitleAberrant mRNA splicing causes sorbitol dehydrogenase deficiency in C57BL/LiA mice
 
AuthorsLee, FK1
Chung, SK1
Chung, SSM1
 
Issue Date1997
 
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
 
CitationGenomics, 1997, v. 46 n. 1, p. 86-92 [How to Cite?]
DOI: http://dx.doi.org/10.1006/geno.1997.4988
 
AbstractSorbitol dehydrogenase (Sord) catalyzes the interconversion of sorbitol and fructose and is functionally important both in the metabolism of dietary sorbitol and as a source of fructose in semen. Together with aldose reductase, Sord forms the polyol pathway, which plays an important role in the etiology of diabetic complications. The Sord-deficient mouse (C57BL/LiA) is very useful in animal model studies of the involvement of the polyol pathway in both diabetic and congenital cataracts. To understand more about this strain, we characterized the molecular basis underlying this Sord deficiency and found that this was due to a point mutation in the exon 8/intron 8 junction. Substitution of an A for G at the first position of the strictly conserved GT donor completely abolished normal splicing of exon 8. Aberrant splicing of this junction generates at least three types of transcripts: one lacking exon 8, another that has a truncated exon 8, and a third that contains intron sequences. We have devised two convenient PCR- based methods to identify this mutation in C57BL/LiA mice. These methods are useful in animal experiments that involve crossbreeding with these mice because they allow early determination of genotype without the need to sacrifice the animals for enzyme assay.
 
ISSN0888-7543
2013 Impact Factor: 2.793
 
DOIhttp://dx.doi.org/10.1006/geno.1997.4988
 
ISI Accession Number IDWOS:A1997YK55200011
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorLee, FK
 
dc.contributor.authorChung, SK
 
dc.contributor.authorChung, SSM
 
dc.date.accessioned2010-09-06T09:37:14Z
 
dc.date.available2010-09-06T09:37:14Z
 
dc.date.issued1997
 
dc.description.abstractSorbitol dehydrogenase (Sord) catalyzes the interconversion of sorbitol and fructose and is functionally important both in the metabolism of dietary sorbitol and as a source of fructose in semen. Together with aldose reductase, Sord forms the polyol pathway, which plays an important role in the etiology of diabetic complications. The Sord-deficient mouse (C57BL/LiA) is very useful in animal model studies of the involvement of the polyol pathway in both diabetic and congenital cataracts. To understand more about this strain, we characterized the molecular basis underlying this Sord deficiency and found that this was due to a point mutation in the exon 8/intron 8 junction. Substitution of an A for G at the first position of the strictly conserved GT donor completely abolished normal splicing of exon 8. Aberrant splicing of this junction generates at least three types of transcripts: one lacking exon 8, another that has a truncated exon 8, and a third that contains intron sequences. We have devised two convenient PCR- based methods to identify this mutation in C57BL/LiA mice. These methods are useful in animal experiments that involve crossbreeding with these mice because they allow early determination of genotype without the need to sacrifice the animals for enzyme assay.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationGenomics, 1997, v. 46 n. 1, p. 86-92 [How to Cite?]
DOI: http://dx.doi.org/10.1006/geno.1997.4988
 
dc.identifier.doihttp://dx.doi.org/10.1006/geno.1997.4988
 
dc.identifier.epage92
 
dc.identifier.hkuros34269
 
dc.identifier.isiWOS:A1997YK55200011
 
dc.identifier.issn0888-7543
2013 Impact Factor: 2.793
 
dc.identifier.issue1
 
dc.identifier.openurl
 
dc.identifier.pmid9403062
 
dc.identifier.scopuseid_2-s2.0-0031573444
 
dc.identifier.spage86
 
dc.identifier.urihttp://hdl.handle.net/10722/87992
 
dc.identifier.volume46
 
dc.languageeng
 
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
 
dc.publisher.placeUnited States
 
dc.relation.ispartofGenomics
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAlleles
 
dc.subject.meshAnimals
 
dc.subject.meshCloning, Molecular
 
dc.subject.meshDNA Mutational Analysis
 
dc.subject.meshGenes - genetics
 
dc.subject.meshL-Iditol 2-Dehydrogenase - deficiency - genetics
 
dc.subject.meshMice
 
dc.subject.meshMice, Inbred C57BL
 
dc.subject.meshMolecular Sequence Data
 
dc.subject.meshOrgan Specificity
 
dc.subject.meshPoint Mutation - genetics
 
dc.subject.meshRNA Splicing - genetics
 
dc.subject.meshRNA, Messenger - genetics
 
dc.titleAberrant mRNA splicing causes sorbitol dehydrogenase deficiency in C57BL/LiA mice
 
dc.typeArticle
 
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Author Affiliations
  1. The University of Hong Kong