title: cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product.
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.
authors.affiliation: Department of Human Genetics, University of Michigan Medical Center, Ann Arbor 48109.
authors.forename: D A
authors.initials: DA
authors.lastname: Marchuk
authors.forename: A M
authors.initials: AM
authors.lastname: Saulino
authors.forename: R
authors.initials: R
authors.lastname: Tavakkol
authors.forename: M
authors.initials: M
authors.lastname: Swaroop
authors.forename: M R
authors.initials: MR
authors.lastname: Wallace
authors.forename: L B
authors.initials: LB
authors.lastname: Andersen
authors.forename: A L
authors.initials: AL
authors.lastname: Mitchell
authors.forename: D H
authors.initials: DH
authors.lastname: Gutmann
authors.forename: M
authors.initials: M
authors.lastname: Boguski
authors.forename: F S
authors.initials: FS
authors.lastname: Collins
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D001921:Brain / Q000378:metabolism; D002886:Chromosomes, Human, Pair 17; D003001:Cloning, Molecular; D004247:DNA; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D008969:Molecular Sequence Data; D025542:Neurofibromin 1; D011506:Proteins / Q000235:genetics*; D014158:Transcription, Genetic
chemical_list: D025542:Neurofibromin 1; D011506:Proteins; D004247:DNA