Complex expression pattern of the Barth syndrome gene product tafazzin in human cell lines and murine tissues
- 1 October 2004
- journal article
- Published by Canadian Science Publishing in Biochemistry and Cell Biology
- Vol. 82 (5), 569-576
- https://doi.org/10.1139/o04-055
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.Key words: cardiolipin, murine, heart, Barth Syndrome, phospholipid, acyltransferase, tafazzin.Keywords
This publication has 21 references indexed in Scilit:
- Regulation of cytosolic phospholipase A 2 , cyclooxygenase-1 and -2 expression by PMA, TNFα, LPS and M-CSF in human monocytes and macrophagesMolecular and Cellular Biochemistry, 2003
- Infantile Dilated X-Linked Cardiomyopathy, G4.5 Mutations, Altered Lipids, and Ultrastructural Malformations of Mitochondria in Heart, Liver, and Skeletal MuscleLaboratory Investigation, 2002
- Mutation Characterization and Genotype-Phenotype Correlation in Barth SyndromeAmerican Journal of Human Genetics, 1997
- The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated CardiomyopathiesAmerican Journal of Human Genetics, 1997
- A novel X-linked gene, G4.5. is responsible for Barth syndromeNature Genetics, 1996
- Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28American Journal of Medical Genetics, 1993
- X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduriaThe Journal of Pediatrics, 1991
- 3‐Methylglutaconic aciduria: A marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a ‘new’ type (‘type 4’)Journal of Inherited Metabolic Disease, 1991
- Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolismThe Journal of Pediatrics, 1988
- An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytesJournal of the Neurological Sciences, 1983