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
2011 Impact Factor: 3.019
2011 SCImago Journal Rankings: 0.452
DOIhttp://dx.doi.org/10.1006/geno.1997.4988
ISI Accession Number IDWOS:A1997YK55200011
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 3.019
2011 SCImago Journal Rankings: 0.452
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
Author Affiliations
  1. The University of Hong Kong