title: The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts.
abstract: 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.
authors.affiliation: Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia 19104-6145.
authors.forename: M J
authors.initials: MJ
authors.lastname: Pykett
authors.forename: M
authors.initials: M
authors.lastname: Murphy
authors.forename: P R
authors.initials: PR
authors.lastname: Harnish
authors.forename: D L
authors.initials: DL
authors.lastname: George
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002460:Cell Line; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D004277:DNA, Single-Stranded / Q000235:genetics; D005091:Exons; D015972:Gene Expression Regulation, Neoplastic; D016515:Genes, Neurofibromatosis 2; D006801:Humans; D008565:Membrane Proteins / Q000096:biosynthesis / Q000235:genetics*; D008577:Meningeal Neoplasms / Q000235:genetics* / Q000378:metabolism; D008578:Meninges / Q000378:metabolism; D008579:Meningioma / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000096:biosynthesis / Q000235:genetics*; D016518:Neurofibromatosis 2 / Q000235:genetics; D025581:Neurofibromin 2; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics*; D014407:Tumor Cells, Cultured
chemical_list: D004273:DNA, Neoplasm; D004277:DNA, Single-Stranded; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D025581:Neurofibromin 2; D012333:RNA, Messenger