TY - JOUR
T1 - Expression of a developmentally-regulated neuron-specific isoform of the neurofibromatosis 1 (NF1) gene
AU - Geist, Robert T.
AU - Gutmann, David H.
N1 - Funding Information:
We thank the members of our laboratory for assistance in the experiments detailed within. We also appreciate the technical assistance of Drs. David M. Holtzman, Cynthia Csernansky and Sandra Hewett. This work is supported in part by grants from the National Institute for Neurologic Diseases and Stroke (National Institutes of Health NS-01590-05 and NS-33494-02) as well as generous support from Schnuck Markets. Inc.
PY - 1996/6/21
Y1 - 1996/6/21
N2 - 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.
AB - 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.
KW - Central nervous system
KW - Isoform
KW - Learning disabilities
KW - Neurofibromatosis 1 (NF1) gene
KW - Neurons
KW - Tumor suppressor gene
UR - http://www.scopus.com/inward/record.url?scp=0030596546&partnerID=8YFLogxK
U2 - 10.1016/0304-3940(96)12730-0
DO - 10.1016/0304-3940(96)12730-0
M3 - Article
C2 - 8830850
AN - SCOPUS:0030596546
SN - 0304-3940
VL - 211
SP - 85
EP - 88
JO - Neuroscience Letters
JF - Neuroscience Letters
IS - 2
ER -