title: Developmental regulation of a neuron-specific neurofibromatosis 1 isoform.
abstract: We have identified a protein isoform of the neurofibromatosis 1 (NF1) gene (neurofibromin) containing the alternatively spliced exon 9a that is expressed in forebrain neurons. Exon 9a neurofibromin is localized in the cytoplasm, sediments in a P100 fraction, and is expressed throughout the soma and processes in cortical neurons in vitro. Expression of exon 9a neurofibromin is developmentally regulated, with expression first detected after postnatal day 2. The identification of this novel protein isoform with restricted neuronal expression suggests novel functions for neurofibromin in the postmitotic brain that are perhaps relevant to the learning disabilities observed in children with NF1.
authors.affiliation: Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA.
authors.forename: D H
authors.initials: DH
authors.lastname: Gutmann
authors.forename: Y
authors.initials: Y
authors.lastname: Zhang
authors.forename: A
authors.initials: A
authors.lastname: Hirbe
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D000831:Animals, Newborn; D001921:Brain / Q000196:embryology / Q000378:metabolism*; D002478:Cells, Cultured; D002540:Cerebral Cortex / Q000378:metabolism*; D005314:Embryonic and Fetal Development; D005091:Exons; D018507:Gene Expression Regulation, Developmental; D016514:Genes, Neurofibromatosis 1; D051379:Mice; D009419:Nerve Tissue Proteins / Q000235:genetics; D025542:Neurofibromin 1; D009474:Neurons / Q000378:metabolism*; D020033:Protein Isoforms / Q000235:genetics; D011506:Proteins / Q000235:genetics*
chemical_list: D009419:Nerve Tissue Proteins; D025542:Neurofibromin 1; D020033:Protein Isoforms; D011506:Proteins