Expression of a developmentally-regulated neuron-specific isoform of the neurofibromatosis 1 (NF1) gene

Robert T. Geist, David H. Gutmann

Research output: Contribution to journalArticlepeer-review

34 Scopus citations

Abstract

Neurofibromatosis 1 (NF1) is a common autosomal/dominant disorder in which affected individuals develop benign and malignant tumors as well as non-tumor-related abnormalities, such as seizures and learning disabilities. Here, we report an NF1 isoform arising from the alternative splicing of exon 9a with predominant central nervous system (CNS) expression. Exon 9a expression is enriched in neurons of the forebrain, specifically septum, striatum, cortex, hippocampus and olfactory bulb with significantly less expression in brainstem, cerebellum and spinal cord. This pattern of NF1 espn 9a expression correlates with the postnatal maturation of these neurons and suggests a role for NF1 in neuronal differentiation.

Original languageEnglish
Pages (from-to)85-88
Number of pages4
JournalNeuroscience Letters
Volume211
Issue number2
DOIs
StatePublished - Jun 21 1996

Keywords

  • Central nervous system
  • Isoform
  • Learning disabilities
  • Neurofibromatosis 1 (NF1) gene
  • Neurons
  • Tumor suppressor gene

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