The NFRL is the Neurofibromatosis type 1 (NF1) Research Laboratory. Current members of the laboratory are: Gary R. Skuse, Amedeo J. Cappione, and a host of visitors.

NF1 is a common hereditary disease which predisposes affected individuals to tumors of the central and peripheral nervous systems. The protein encoded by the NF1 gene, neurofibromin, is a member of the class of negative growth regulatory proteins called tumor suppressors. Neurofibromin contains a GTPase activiating protein (GAP) domain which interacts with the product of the ras protooncogene to regulate signal transduction through pathways which involve ras. Organization of the NF1 gene is complex, with three additional genes and one transcribed pseudogene embedded within its introns. The gene encompasses more than 300kb of DNA on chromosome 17 and is composed of at least 60 exons. The clinical manifestations of NF1 are complex and include benign and malignant tumors of the nervous system, cafe au lait spots, learning disabilities, Lisch nodules, skeletal abnormalities, and other minor complications. Expression of the NF1 gene is complex, with at least four alternatively spliced transcripts produced in a developmentally regulated manner. The NF1 messenger RNA also undergoes a form of base-modification RNA editing. Currently, members of our laboratory are investigating various epigenetic mechanisms which modulate NF1 gene expression.

You can learn more about Dr. Skuse's interests here:
Gary R. Skuse, Ph.D.
The projects currently being pursued by the members of this laboratory include:

"Editing of the NF1 mRNA"
Amedeo J. Cappione, III

"APOBEC-1 is the Cytidine Deaminase Responsible for NF1 and ApoB mRNA Editing"
Amedeo J. Cappione, III

"Characterization of NF1 RNA editing in NF1 tumor and nontumor tissues"
Brian L. French

A former member of our laboratory developed a project to study the expression of
NF1 mRNA alternative transcripts.

"Modulation of NF1 alternate transcript expression by extrinsic factors"
Linda J. Metheny

"Protein synthesis inhibitors lead to increased levels of murine type I and type III NF1 mRNA isoforms"
Linda J. Metheny

To learn more about neurofibromatosis you can access the National Neurofibromatosis Foundation Home Page or the NF, Inc. Home Page.

Contact us:

To contact any of us send e-mail to, phone or fax us at (585) 223-3114.

This page, and all contents, are Copyright (C) 2002 by Gary R. Skuse, Ph.D., Rochester, New York
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