NEUROFIBROMATOSIS type 2 (NF2) is an autosomal dominant disease in whi
ch loss of function mutations of the NF2 gene lead to the development
of schwannomas, meningiomas and juvenile cataracts. We studied the mou
se NF2 homologue (Nf2) to determine its precise pattern of mRNA and pr
otein expression. In situ hybridization showed that Nf2 is expressed i
n neuronal cells as well as in epithelial and fibre cells of the lens.
The Nf2 protein, schwannomin, is expressed as a single protein isofor
m of similar to 80kDa in neuronal and nonneuronal tissues. In Purkinje
cells of the cerebellum and motor neurones of the spinal cord, the pr
otein is in the cytoplasm. In non-neuronal tissues immunostaining show
ed expression in cells of the tunica intima of blood vessels. We concl
ude that there is a widespread but cell type-specific expression of sc
hwannomin.