EXPRESSION OF A DEVELOPMENTALLY-REGULATED NEURON-SPECIFIC ISOFORM OF THE NEUROFIBROMATOSIS-1 (NF1) GENE

Neurofibromatosis 1 (NF1) is a common autosomal dominant disorder in w hich affected individuals develop benign and malignant tumors as well as non-tumor-related abnormalities, such as seizures and learning disa bilities. Here, we report an NF1 isoform arising from the alternative splicing of exon 9a with predominant central nervous system (CNS) expr ession. Exon 9a expression is enriched in neurons of the forebrain, sp ecifically septum, striatum, cortex, hippocampus and olfactory bulb wi th significantly less expression in brainstem, cerebellum and spinal c ord. This pattern of NF1 exon 9a expression correlates with the postna tal maturation of these neurons and suggests a role for NF1 in neurona l differentiation.