NF1 Tumor Suppressor Gene Function: Narrowing the GAP

Tumor suppressor genes are typically identified through their association with a familial cancer syndrome. As a result, information regarding the normal function of the gene, especially the tissues in which gene function is critical, can be inferred from the symptoms of the disease. Such is the case...

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Bibliographic Details
Published in:Cell 2001-02, Vol.104 (4), p.593-604
Main Authors: Cichowski, Karen, Jacks, Tyler
Format: Article
Language:English
Subjects:
Animals
Brain Neoplasms - etiology
Brain Neoplasms - genetics
Central Nervous System - pathology
Genetic Predisposition to Disease
GTPase-Activating Proteins - physiology
Humans
Models, Biological
Mutation
Nerve Tissue Proteins - genetics
Nerve Tissue Proteins - physiology
Neurofibroma - etiology
Neurofibroma - genetics
Neurofibroma - metabolism
Neurofibromatosis 1 - diagnosis
Neurofibromatosis 1 - genetics
Neurofibromin 1
Neurons - physiology
NF1 gene
Peripheral Nervous System - pathology
ras GTPase-Activating Proteins - physiology
Schwann Cells - physiology
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Summary:Tumor suppressor genes are typically identified through their association with a familial cancer syndrome. As a result, information regarding the normal function of the gene, especially the tissues in which gene function is critical, can be inferred from the symptoms of the disease. Such is the case for NF1, the gene responsible for neurofibromatosis type I. Patients with NF1 are predisposed to developing a variety of benign and malignant tumors, many of which affect the peripheral and central nervous systems (PNS and CNS). However, NF1 patients can also exhibit cognitive deficits and develop other symptoms unrelated to cancer, often affecting neural crest-derived tissues outside of the PNS, indicating important growth control and developmental functions in a wide range of cell and tissue types. Due to the prevalence of tumors and other symptoms affecting the nervous system in NF1, this review will focus on recent progress in understanding their development using molecular genetic, genetic, biochemical, and cell biological approaches. By considering the findings from each of these approaches, an integrated picture regarding the normal function of NF1 is beginning to emerge.
ISSN:0092-8674
1097-4172
DOI:10.1016/S0092-8674(01)00245-8