A novel intronic mutation of the TAZ (G4.5) gene in a patient with Barth syndrome : creation of a 5' splice donor site with variant GC consensus and elongation of the upstream exon

Mutation analysis of the TAZ ( G4.5) gene was performed on a patient with Barth syndrome. The reverse transcription/polymerase chain reaction procedure showed aberrant splicing and elongation of exon 3 because of the insertion of 106 bases (IVS3+1 to +106) between exons 3 and 4. The genomic DNA reve...

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Bibliographic Details
Published in:Human genetics 2001-11, Vol.109 (5), p.559-563
Main Authors: SAKAMOTO, Osamu, OHURA, Toshihiro, KATSUSHIMA, Yuriko, FUJIWARA, Ikuma, OGAWA, Eishin, MIYABAYASHI, Shigeaki, IINUMA, Kazuie
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Animals
Base Sequence
Biological and medical sciences
COS Cells
DNA Primers
DNA-Binding Proteins - genetics
Exons
Fundamental and applied biological sciences. Psychology
Humans
Introns
Molecular and cellular biology
Mutation
Polymerase Chain Reaction
Proteins
Syndrome
Transcription Factors - genetics
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Summary:Mutation analysis of the TAZ ( G4.5) gene was performed on a patient with Barth syndrome. The reverse transcription/polymerase chain reaction procedure showed aberrant splicing and elongation of exon 3 because of the insertion of 106 bases (IVS3+1 to +106) between exons 3 and 4. The genomic DNA revealed an intronic mutation four bases downstream from the new cleavage site (IVS3+110G-->A). The IVS3+110G-->A mutation created a novel 5' splice site that showed GC but not GT, and the additional splice site was used preferentially over the upstream authentic slice site. This is a new type of splicing mutation responsible for a human genetic disease.
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-001-0612-3