cDNA cloning of the type 1 neurofibromatosis gene: Complete sequence of the NF1 gene product

Douglas A. Marchuk, Ann M. Saulino, Roxanne Tavakkol, Manju Swaroop, Margaret R. Wallace, Lone B. Andersen, Anna L. Mitchell, David H. Gutmann, Mark Boguski, Francis S. Collins

Research output: Contribution to journalArticlepeer-review

346 Scopus citations

Abstract

Von Recklinghausen neurofibromatosis, or type 1 neurofibromatosis (NF1), is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the embryonic neural crest. Portions of the gene have been recently identified by positional cloning, and sequence analysis has shown homology to the GTPase activating protein (GAP) family. In this report we present the results of an extensive cDNA walk resulting in the cloning of the complete coding region of the NF1 transcript. Analysis of the sequences reveals an open reading frame of 2818 amino acids, although alternatively spliced products may code for different protein isoforms. The gene extends for approximately 300 kb on chromosome 17, with its promoter in a CpG-rich island.

Original languageEnglish
Pages (from-to)931-940
Number of pages10
JournalGenomics
Volume11
Issue number4
DOIs
StatePublished - Dec 1991

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