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Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues.

Abstract
Tafazzins, a group of proteins that are defective in patients with Barth syndrome, are produced by alternate splicing of the gene G4.5 or TAZ. RT-PCR and transcription-coupled in vitro translation analysis were undertaken to determine the expression of alternatively spliced TAZ mRNA in mouse tissues and human cell lines. Only two tafazzin transcripts, both lacking exon 5, were expressed in murine tissues, whereas four tafazzin transcripts, all lacking exon 5, were observed in human umbilical vein vascular endothelial cells and U937 human monoblasts indicating a species-specific difference in the expression of TAZ mRNAs in mouse and humans. Only TAZ lacking exon 5 was expressed in murine heart. Differentiation of U937 human monoblasts into macrophages did not alter expression of the tafazzin transcripts indicating that TAZ expression is independent of monocyte differentiation. Cloning and in vitro expression of both murine and human tafazzin cDNA revealed two prominent protein bands that corresponded to the expected sizes of alternative translation. A novel fifth motif, identified as critical for the glycerolphosphate acyltransferase family, was observed in human tafazzin. The presence of a mutation in this region in Barth syndrome patients indicates that this motif is essential for tafazzin function.
AuthorsBiao Lu, Marguerite R Kelher, Douglas P Lee, Tal M Lewin, Rosalind A Coleman, Patrick C Choy, Grant M Hatch
JournalBiochemistry and cell biology = Biochimie et biologie cellulaire (Biochem Cell Biol) Vol. 82 Issue 5 Pg. 569-76 (Oct 2004) ISSN: 0829-8211 [Print] Canada
PMID15499385 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Proteins
  • RNA, Messenger
  • Transcription Factors
  • Acyltransferases
  • tafazzin protein, mouse
  • TAFAZZIN protein, human
  • Glycerol-3-Phosphate O-Acyltransferase
Topics
  • Acyltransferases
  • Alternative Splicing (genetics)
  • Amino Acid Sequence
  • Animals
  • Cell Differentiation (physiology)
  • Cells, Cultured
  • Gene Expression Regulation (genetics, physiology)
  • Genetic Diseases, X-Linked (genetics, metabolism)
  • Glycerol-3-Phosphate O-Acyltransferase (metabolism)
  • Humans
  • Macrophages (cytology, metabolism)
  • Mice
  • Molecular Sequence Data
  • Mutation (genetics)
  • Proteins (genetics, metabolism)
  • RNA, Messenger (genetics, metabolism)
  • Tissue Distribution
  • Transcription Factors (genetics, metabolism)

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