THE NEUROFIBROMATOSIS-2 (NF2) TUMOR-SUPPRESSOR GENE ENCODES MULTIPLE ALTERNATIVELY SPLICED TRANSCRIPTS

Citation
Mj. Pykett et al., THE NEUROFIBROMATOSIS-2 (NF2) TUMOR-SUPPRESSOR GENE ENCODES MULTIPLE ALTERNATIVELY SPLICED TRANSCRIPTS, Human molecular genetics, 3(4), 1994, pp. 559-564
Citations number
29
Categorie Soggetti
Genetics & Heredity",Biology
Journal title
ISSN journal
09646906
Volume
3
Issue
4
Year of publication
1994
Pages
559 - 564
Database
ISI
SICI code
0964-6906(1994)3:4<559:TN(TGE>2.0.ZU;2-Y
Abstract
Neurofibromatosis type 2 (NF2) is an autosomal dominantly-inherited di sorder predisposing affected individuals to tumors of multiple cell ty pes 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 transcripti on - 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 isol ated from several sources, including primary leptomeningeal tissue and an established line of leptomeningeal cells (LMC). Several of these v ariants delete previously identified coding regions of this gene. More over, two of these splice variants add previously unrecognized exons t o the NF2 coding region. These identified splice forms will serve as n atural reagents for the functional dissection of the NF2 protein produ ct(s). They also should be considered in studies investigating mutatio ns of this gene in members of NF2 families and in tumor analyses.