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Article: Aberrant mRNA splicing causes sorbitol dehydrogenase deficiency in C57BL/LiA mice

TitleAberrant mRNA splicing causes sorbitol dehydrogenase deficiency in C57BL/LiA mice
Authors
Issue Date1997
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Citation
Genomics, 1997, v. 46 n. 1, p. 86-92 How to Cite?
Abstract
Sorbitol 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.
Persistent Identifierhttp://hdl.handle.net/10722/87992
ISSN
2013 Impact Factor: 2.793
ISI Accession Number ID
References

 

Author Affiliations
  1. The University of Hong Kong
DC FieldValueLanguage
dc.contributor.authorLee, FKen_HK
dc.contributor.authorChung, SKen_HK
dc.contributor.authorChung, SSMen_HK
dc.date.accessioned2010-09-06T09:37:14Z-
dc.date.available2010-09-06T09:37:14Z-
dc.date.issued1997en_HK
dc.identifier.citationGenomics, 1997, v. 46 n. 1, p. 86-92en_HK
dc.identifier.issn0888-7543en_HK
dc.identifier.urihttp://hdl.handle.net/10722/87992-
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.en_HK
dc.languageengen_HK
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygenoen_HK
dc.relation.ispartofGenomicsen_HK
dc.subject.meshAllelesen_HK
dc.subject.meshAnimalsen_HK
dc.subject.meshCloning, Molecularen_HK
dc.subject.meshDNA Mutational Analysisen_HK
dc.subject.meshGenes - geneticsen_HK
dc.subject.meshL-Iditol 2-Dehydrogenase - deficiency - geneticsen_HK
dc.subject.meshMiceen_HK
dc.subject.meshMice, Inbred C57BLen_HK
dc.subject.meshMolecular Sequence Dataen_HK
dc.subject.meshOrgan Specificityen_HK
dc.subject.meshPoint Mutation - geneticsen_HK
dc.subject.meshRNA Splicing - geneticsen_HK
dc.subject.meshRNA, Messenger - geneticsen_HK
dc.titleAberrant mRNA splicing causes sorbitol dehydrogenase deficiency in C57BL/LiA miceen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0888-7543&volume=46&spage=86&epage=92&date=1997&atitle=Aberrant+mRNA+splicing+causes+sorbitol+dehydrogenase+deficiency+in+C57BL/LiA+miceen_HK
dc.identifier.emailChung, SK: skchung@hkucc.hku.hken_HK
dc.identifier.emailChung, SSM: smchung@hkucc.hku.hken_HK
dc.identifier.authorityChung, SK=rp00381en_HK
dc.identifier.authorityChung, SSM=rp00376en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1006/geno.1997.4988en_HK
dc.identifier.pmid9403062en_HK
dc.identifier.scopuseid_2-s2.0-0031573444en_HK
dc.identifier.hkuros34269en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0031573444&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume46en_HK
dc.identifier.issue1en_HK
dc.identifier.spage86en_HK
dc.identifier.epage92en_HK
dc.identifier.isiWOS:A1997YK55200011-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridLee, FK=7403111561en_HK
dc.identifier.scopusauthoridChung, SK=7404292976en_HK
dc.identifier.scopusauthoridChung, SSM=14120761600en_HK

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