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© 1994 Oxford University Press

OTHER

The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts

Mark J. Pykett, Maureen Murphy, Peter R. Harnish and Donna L. George*

Department of Genetics, University of Pennsylvania School of Medicine Philadelphia, PA 19104–6145, USA

*To whom correspondence should be addressed

Received December 7, 1993; Accepted February 23, 1994

Neurofibromatosis type 2 (NF2) is an autosomal dominantly-Inherited disorder predisposing affected individuals to tumors of multiple cell types in the central nervous system, Including meningiomas. A candidate tumor suppressor gene for this disorder has recently been cloned; the protein product of this gene has a predicted role in linking integral membrane proteins with the cytoskeleton. Utilizing reverse transcription-polymerase chain reaction (RT-PCR) analyses, we have Identified a number of alternatively spliced transcription products encoded by the NF2 gene. These alternative splice variants were detected in RNA isolated from several sources, Including primary leptomeningeal tissue and an established line of leptomeningeal cells (LMC). Several of these variants delete previously identified coding regions of this gene. Moreover, two of these splice variants add previously unrecognized exons to the NF2 coding region. These Identified splice forms will serve as natural reagents for the functional dissection of the NF2 protein product(s). They also should be considered in studies investigating mutations of this gene in members of NF2 families and in tumor analyses.


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