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
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.