Widespread but cell type-specific expression of the mouse neurofibromatosis type 2 gene.
Neurofibromatosis type 2 (NF2) is an autosomal dominant disease in which loss of function mutations of the NF2 gene lead to the development of schwannomas, meningiomas and juvenile cataracts. We studied the mouse NF2 homologue (Nf2) to determine its precise pattern of mRNA and protein expression. In situ hybridization showed that Nf2 is expressed in neuronal cells as well as in epithelial and fibre cells of the lens. The Nf2 protein, schwannomin, is expressed as a single protein isoform of approximately 80 kDa in neuronal and non-neuronal tissues. In Purkinje cells of the cerebellum and motor neurones of the spinal cord, the protein is in the cytoplasm. In non-neuronal tissues immunostaining showed expression in cells of the tunica intima of blood vessels. We conclude that there is a widespread but cell type-specific expression of schwannomin.
Claudio
J O
JO
Center for Research in Neuroscience, McGill University, Montreal, Quebec, Canada.
Lutchman
M
M
Rouleau
G A
GA
D000818:Animals; D005455:Fluorescent Antibody Technique; D015972:Gene Expression Regulation, Neoplastic / Q000502:physiology*; D016515:Genes, Neurofibromatosis 2; D017403:In Situ Hybridization; D007413:Intestinal Mucosa / Q000378:metabolism; D007422:Intestines / Q000166:cytology; D007908:Lens, Crystalline / Q000166:cytology / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008809:Mice, Inbred C3H; D009363:Neoplasm Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D025581:Neurofibromin 2; D009474:Neurons / Q000378:metabolism*; D011689:Purkinje Cells / Q000378:metabolism; D012333:RNA, Messenger / Q000096:biosynthesis; D013116:Spinal Cord / Q000166:cytology / Q000378:metabolism
D008565:Membrane Proteins; D009363:Neoplasm Proteins; D009419:Nerve Tissue Proteins; D025581:Neurofibromin 2; D012333:RNA, Messenger