© 1992 Oxford University Press
RESEARCH-ARTICLE |
Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells
Molecular Genetics Group, Institute of Molecular Medicine, John Radcliffe Hospital Headington, Oxford OX3 9DU 1Research Division, North East Wales Institute Deeside, Clwyd CH5 4BR 2Nuffield Department of Pathology, John Radcliffe Hospital Oxford 3United Medical and Dental Schools of Guy's and St Thomas Hospitals Medical School Building, London Bridge, London SE1 9RT 4Galton Laboratory, MRC Human Biochemical Genetics Unit Wolfson House, 4 Stevenson Way, London NW1 2HE, UK
* To whom correspondence should be addressed
Received January 24, 1992; Revised March 24, 1992; Accepted March 24, 1992
The 14kb dystrophin transcript from the Duchenne muscular dystrophy (DMD) locus, which encodes a 427kDa protein, is differentially spliced at the amino terminal end giving rise to alternative transcripts expressed in muscle and brain. Here we present evidence for a 4.8kb transcript from the DMD locus which is ubiquitously expressed but is particularly abundant in Schwannoma cells where dystrophin could not be detected. The hybridisation of Western blots with dystrophin antibodies also identifies a protein of approximately 80kDa of variable abundance in different human and mdx tissues. Immunocytochemistry studies confirm the expression of this protein in nerve cells, a tissue in which full length dystrophin is not detected. Sequencing of the 5' end of a clone isolated from a rat Schwannoma cDNA library, shows that the 4.8kb transcript shares exons with the carboxy terminal end of dystrophin but the 5' untranslated region is not contained within the dystrophin transcript. We propose that the 4.8kb gene product be called apodystrophin-1 as its expression is distinct from the dystrophin 14kb mRNA but it is transcribed from the same locus.
+ Present address: CRC Human Cancer Gentics Group, Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge, Tennis Court Road, Cambridge CB2 IQP, UK
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