Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5906108 | Gene | 2013 | 5 Pages |
Abstract
Peters plus syndrome is a rare recessive autosomal disorder comprising ocular anterior segment dysgenesis, short stature, hand abnormalities and distinctive facial features. It was related only to mutations in the B3GALTL gene in the 13q12.3 region. In this study, we undertook the first functional analysis of a novel c.597-2 AÂ >Â G splicing mutation within the B3GALTL gene using an ex-vivo approach. The results showed a complete skipping of exon 8 in the B3GALTL cDNA, which altered the open reading frame of the mutant transcript and generated a PTC within exon 9. This finding potentially elicits the nonsense mRNA to degradation by NMD (nonsense-mediated mRNA decay). The theoretical consequences of splice site mutations, predicted with the bioinformatics tool Human Splice Finder, were investigated and evaluated in relation to ex-vivo results. The findings confirmed the key role played by the B3GALTL gene in typical Peters-plus syndromes and the utility of mRNA analysis to understand the primary impacts of this mutation and the phenotype of the disease.
Keywords
G418PolyadenylationdeoxyribonucleasePTCNMDRPMIβgalhsfRT-PCRdNTPTMRESEmRNAINSMMLVConsensus valuecDNADNA complementary to RNADNADNAsePpsamino acid(s)Functional analysisdeoxyribonucleic acidexonic splicing enhancerInsertionHuman Splicing Finderβ-galactosidaseSplice siteBase pair(s)Catalytic domaindeoxyribonucleoside triphosphatemessenger ribonucleic acidforwardnonsense-mediated mRNA decayRoswell Park Memorial InstitutereverseTransmembrane regionwild typepolymerase chain reactionreverse transcription polymerase chain reactionPCRMoloney murine leukemia virusexon skippingpolyAGeneticin
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Authors
Afif Ben Mahmoud, Olfa Siala, Riadh Ben Mansour, Fatma Driss, Siwar Baklouti-Gargouri, Emna Mkaouar-Rebai, Neila Belguith, Faiza Fakhfakh,