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dc.contributor.authorShah, JH
dc.contributor.authorMaguire, DJ
dc.contributor.authorMunce, TB
dc.contributor.authorCotterill, A
dc.contributor.editorKang, KA
dc.contributor.editorHarrison, DK
dc.contributor.editorBruley, DF
dc.date.accessioned2017-05-03T16:57:12Z
dc.date.available2017-05-03T16:57:12Z
dc.date.issued2008
dc.date.modified2009-10-26T06:11:52Z
dc.identifier.issn0065-2598
dc.identifier.doi10.1007/978-0-387-74911-2_17
dc.identifier.urihttp://hdl.handle.net/10072/26250
dc.description.abstractIt is a widely held paradigm in molecular biology that a change in the third base of a codon is silent in terms of expression. In this investigation, results are presented that challenge that paradigm, at least in terms of one polymorphism in KCNJ11, which is one of five genes that have been implicated in the disorder Hyperinsulinism of Infancy. In two cohorts of Australian patients, an uneven distribution of KCNJ11 SNP's was observed. A silent polymorphism at codon 190 was over-represented in the patients who responded well to medical treatment and under-represented in those that required radical surgical intervention. In an attempt to investigate this polymorphism, it was expressed in vitro and western blot analysis showed that there were virtually no bands from the homozygous variant samples, while strong bands were seen in normal controls. The human genome is highly redundant in terms of tRNA species for each amino acids but enigmatically under-represents a number of specific codons. The polymorphism in question occurs within one such codon. We propose that the presence of a base change at the third position of codon that is not represented by a corresponding anti-codon within the human nuclear tRNA leads to a decreased rate of expression of the protein.
dc.description.peerreviewedYes
dc.description.publicationstatusYes
dc.languageEnglish
dc.language.isoeng
dc.publisherSpringer
dc.publisher.placeUnited States
dc.publisher.urihttp://www.springer.com/
dc.relation.ispartofstudentpublicationN
dc.relation.ispartofpagefrom145
dc.relation.ispartofpageto150
dc.relation.ispartofissuePART IV
dc.relation.ispartofjournalAdvances in Experimental Medicine and Biology
dc.relation.ispartofvolume614
dc.rights.retentionY
dc.subject.fieldofresearchMolecular medicine
dc.subject.fieldofresearchBiomedical and clinical sciences
dc.subject.fieldofresearchcode340406
dc.subject.fieldofresearchcode32
dc.titleAlanine in HI: A Silent Mutation Cries Out!
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.facultyGriffith Sciences, School of Information and Communication Technology
gro.date.issued2008
gro.hasfulltextNo Full Text
gro.griffith.authorMaguire, David J.
gro.griffith.authorShah, Janaki H.


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    Contains articles published by Griffith authors in scholarly journals.

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